Podcasts about invitae

In this Meet the Startup episode of the Alumni Ventures Tech Optimist Podcast, Meera Oak speaks with Lizzie Matusov, co-founder and CEO of Quotient, about transforming developer productivity. Lizzie shares how Quotient leverages the SPACE framework to identify and resolve inefficiencies in engineering workflows, helping teams eliminate friction and collaborate more effectively. With her extensive experience at Red Hat and Invitae, Lizzie offers unique insights into creating smarter, more efficient engineering practices. This conversation highlights the future of developer efficiency and the tools shaping the next generation of software teams.To Learn More:Alumni Ventures (AV)AV LinkedInAV Women's FundTech OptimistQuotient Legal Disclosure:https://av-funds.com/tech-optimist-disclosuresCreators & Guests Meera Oak - Guest Lizzie Matusov - Guest

We're back with another session from ELC Annual 2024! This episode features an engaging session on collaboration & innovation in the time of AI with Anurag Agarwal, VPE, Google Workspace @ Google, and Lizzie Matusov, Co-Founder & CEO @ Quotient! In this conversation, they dissect how AI is transforming not only the products engineering teams are building but also how teams work together internally. They cover how Google / Google Workplace specifically use AI both internally & externally, strategies for creating & maintaining alignment across a large org, how Anurag addressed challenges during this transitional period, and more.ABOUT ANURAG AGARWALAnurag Agarwal leads the Google Workspace engineering organization, overseeing products such as Gmail, Calendar, Chat, Drive, Docs, Sheets, Slides and Meet that help billions of users and customers across the world to connect, create and build together.With over 18 years of experience at Google, Anurag's expertise spans a wide range of consumer and enterprise products and technologies. His career began in the Display Ads team, where he played a pivotal role in developing publisher ad-serving products from the ground up. He then worked on the Search Ads team driving a number of large-scale infrastructure improvements and leading initiatives such as online-to-offline measurement and monetization of surfaces like Maps and Discover. Prior to his role in Workspace, he spearheaded some early stage incubation projects at Google like Google Health's CareStudio project aimed to help clinicians get a comprehensive view of patient's health information.Anurag spent his childhood in Delhi, India and now resides in the Bay Area with his family." One of the things we sort of tried to do from very early on is to make sure teams see their success in terms of overall workspace success, in terms of more users actually being able to accomplish their work more effectively using all of Workspace's tools, right? It's not about the individual tools, it's really about the whole together.”- Anurag Agarwal   ABOUT LIZZIE MATUSOVLizzie Matusov is the co-founder and CEO of Quotient, a developer tool that surfaces the friction slowing down engineering teams and resolves it directly. Her team also co-authors Research Driven Engineering Leadership, a newsletter that uses research to answer interesting questions on engineering leadership and strategy. She previously worked in various engineering roles at Red Hat and Invitae, and has an MS in Engineering Sciences and MBA from Harvard.SHOW NOTES:Anurag's career at Google & what he's currently working on (2:38)The evolution of Google Workspace & incorporating GenAI (4:31)Diving into internal AI use within Google / across teams (6:37)Challenges faced while creating alignment (9:47)Frameworks for setting goals & aligning KPIs more effectively (11:57)How Google ensures its team feel safe to fail & allow autonomy (14:03)Strategies for maintaining alignment across a large org (16:09)How Anurag's leadership has evolved through technology transformations (18:07)Strategies for helping teams accomplish tasks & be continuously learning (20:33)Anurag's favorite rituals / changes from this transition (24:09)Audience Q&A: What has been your biggest challenge shipping AI? (25:26)Defining Workspace's corpus for the individual vs. the enterprise (27:29)How do you ensure content moderation when using AI features? (28:13)Build guardrails for LLMs depending on the context (29:18)How the center of excellence team distributed its knowledge across various orgs (30:48)Strategies for drawing a line where Gemini responds & ensuring determinism in the response (32:15)Quotient's processes for QA & automation (34:02)Understanding the ethics / responsibilities behind AI usage (35:11)The evolution of developmental practices with deterministic code vs. apps written with AI (36:43)Anurag & Lizzie's key takeaways (38:28)This episode wouldn't have been possible without the help of our incredible production team:Patrick Gallagher - Producer & Co-HostJerry Li - Co-HostNoah Olberding - Associate Producer, Audio & Video Editor https://www.linkedin.com/in/noah-olberding/Dan Overheim - Audio Engineer, Dan's also an avid 3D printer - https://www.bnd3d.com/Ellie Coggins Angus - Copywriter, Check out her other work at https://elliecoggins.com/about/

Genectic Innovations: From Gene Therapy to Germline Genome Editing Evaluation and Credit:  https://www.surveymonkey.com/r/MedChat69 Target Audience             This activity is targeted toward primary care physicians and advanced providers. Statement of Need This program will provide an overview of recent innovations in genetics, highlighting gene therapy and germline genome editing. The discussion will include a review of what it is as well as applications andfuture trends in gene therapy.  Objectives At the conclusion of this offering, the participant will be able to:  Define gene therapy, germline genome editing and precision medicine. Review the applications of gene therapy and germline genome editing. Explain the differences and clinical implications of whole genome sequencing and whole exome sequencing. Discuss future trends of gene therapy and germline genome editing. ModeratorMark McDonald, M.D., FAAP Medical Director Norton Children's Hospital and Norton Children's Medical Center Professor Department of Pediatrics, Critical Care UofL School of Medicine Louisville, Kentucky SpeakerKyle B. Brothers, M.D., Ph.D. Pediatrician and Bioethicist Chief Scientific Officer Norton Children's Research Institute affiliated with the UofL School of Medicine Louisville, Kentucky Moderator, Speaker and Planner Disclosures  The planners and moderator of this activity do not have any relevant financial relationships with ineligible companies to disclose. The speaker Kyle Brothers, M.D., Ph.D., discloses a relevant financial relationship with Invitae in research. This relationship has been mitigated.  Commercial Support  There was no commercial support for this activity.  Physician Credits Accreditation Norton Healthcare is accredited by the Kentucky Medical Association to provide continuing medical education for physicians. Designation Norton Healthcare designates this enduring material for a maximum of .50 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. For more information about continuing medical education, please send an email to cme@nortonhealthcare.org.  Nursing CreditsNorton Healthcare Institute for Education and Development is approved with distinction as a provider of nursing continuing professional development by the South Carolina Nurses Association, an accredited approver by the American Nurses Credentialing Center's Commission on Accreditation. This continuing professional development activity has been approved for .50 contact hours. In order for nursing participants to obtain credits, they must claim attendance by attesting to the number of hours in attendance.   For more information related to nursing credits, contact Sally Sturgeon, DNP, RN, SANE-A, AFN-BC at (502) 446-5889 or sally.sturgeon@nortonhealthcare.org. Resources for Additional Study: Changes in opinions about human germline gene editing as a result of the Dutch DNA-dialogue project https://pubmed.ncbi.nlm.nih.gov/35551502/ Altered lipid metabolism and the development of metabolic-associated fatty liver disease https://pubmed.ncbi.nlm.nih.gov/38484227/   Also listen to Norton Healthcare's podcast Stronger After Stroke. This podcast, produced by the Norton Neuroscience Institute, discusses difficult topics, answers frequently asked questions and provides survivor stories that provide hope. Hear from stroke survivors and medical specialists about being stronger after stroke. Listen on your favorite podcast platform.   Norton Healthcare, a not for profit health care system, is a leader in serving adult and pediatric patients throughout Greater Louisville, Southern Indiana, the commonwealth of Kentucky and beyond. Five Louisville-based hospitals and three hospitals in Southern Indiana, provide inpatient and outpatient general care as well as specialty care including heart, neuroscience, cancer, orthopedic, women's and pediatric services. A strong research program provides access to clinical trials in a multitude of areas. More information about Norton Healthcare is available at NortonHealthcare.com.   Date of Original Release | Aug. 2024; Information is current as of the time of recording.  Course Termination Date | Aug. 2026 Contact Information | Center for Continuing Medical Education; (502) 446-5955 or cme@nortonhealthcare.org     Podcast editing and production by: www.unmuteaudio.com

Shahram Seyedin-Noor is the founder and managing partner at Civilization Ventures. Shahram received a JD from Harvard and worked at Wilson Solsinis and Cooley before going into investment banking at firms like Goldman Sachs and Bank of America. He then entered the startup world co-founding several startups. He eventually ended up Angel investing and in 2017, launched Civilization Ventures, focused on supporting cutting-edge innovations in health tech and biology. Shahram has over a dozen exits under his belt, which is a phenomenal achievement. Here are some of his investments: Rewrite (acq. by Intellia), Replace (acq. by Tome), Lemonaid (acq. by 23andme), Singular Bio (acq. by Invitae), Rocket Pharma (listed on Nasdaq), Palamedrix (acq. by SomaLogic), Foresight Diagnostics, BillionToOne, Omada and others. Shahram takes an active role in company building. Prior to founding CV, Shahram was the founding CEO/Chairman of Inspirna, an oncology therapeutics company currently in Phase 2 human trials, and the CFO and VP of Corporate Development at NextBio, a genomics software pioneer acquired by Illumina. Shownotes: https://www.civilizationventures.com/ Success has a thousand fathers but failure is an orphan Accountability: Few people blame themselves for failure and give credit for success to others Evolution of mindset: Don't let others dictate what you can or supposed to do in life EQ is more/equally important than IQ Transition from law school to startups Advice for recruiting a non-scientific co-founder Rewrite therapeutics acquired by Intellia Investment thesis at Civilization Ventures: Drive to do things differently Lessons learned from exits Contact email: shahram@civilizationventures.com

Adjusting to the new and persistent presence of AI in the legal world isn't easy, but it is necessary. Jared welcomes brothers Justin and Luc Cary, an attorney and software engineer, respectively, to unpack the current state of AI in business and legal uses. They discuss current safety issues, emerging guardrails, best practices for research, AI in legal tech software, and more.  Later on in the Rump Roast, the guys play “Brother Up”, where Justin and Luc must identify famous brothers in history and pop culture.  And, should you be entering confidential information into generative AI tools? Well, there are layers, folks, but in the current AI environment, lawyers should never assume their data is secure. That being said, Jared doesn't want to throw a wet blanket on the AI revolution, he just wants you to know the three simple things that will enable you to use these tools safely and ethically.  Justin Cary is an attorney at Drummond Woodsum. Luc Cary is associate director of machine learning at Invitae. _______________________________________________________ Since we have the Cary brothers with us this week, here's a playlist all about siblings! _______________________________________________________ Our opening track is Two Cigarettes by Major Label Interest. Our closing track is Promised Land by Brian Brown

Adjusting to the new and persistent presence of AI in the legal world isn't easy, but it is necessary. Jared welcomes brothers Justin and Luc Cary, an attorney and software engineer, respectively, to unpack the current state of AI in business and legal uses. They discuss current safety issues, emerging guardrails, best practices for research, AI in legal tech software, and more.  Later on in the Rump Roast, the guys play “Brother Up”, where Justin and Luc must identify famous brothers in history and pop culture.  And, should you be entering confidential information into generative AI tools? Well, there are layers, folks, but in the current AI environment, lawyers should never assume their data is secure. That being said, Jared doesn't want to throw a wet blanket on the AI revolution, he just wants you to know the three simple things that will enable you to use these tools safely and ethically.  Justin Cary is an attorney at Drummond Woodsum. Luc Cary is associate director of machine learning at Invitae. _______________________________________________________ Since we have the Cary brothers with us this week, here's a playlist all about siblings! _______________________________________________________ Our opening track is Two Cigarettes by Major Label Interest. Our closing track is Promised Land by Brian Brown

In this episode we interview Mark McDonough, the CEO of ChromaCode. The episode explores McDonough's journey to ChromaCode, from his early career as a naval officer to his roles at various medical and diagnostic companies. Under McDonough's leadership, ChromaCode has excelled in creating a high-definition PCR platform which enables fast, accurate, and affordable cancer diagnosis. The platform is particularly beneficial as it requires less patient tissue, provides rapid results, and has a lower cost than traditional diagnostic methods. McDonough also discusses the importance of partnerships in their go-to-market strategy and shared his insights on hiring and team development in today's competitive market. Looking ahead, ChromaCode expects to become a leader in developing innovative products for disease diagnosis, with a focus on patient-centered outcomes.https://www.chromacode.com/ https://www.linkedin.com/in/mark-mcdonough-b1055216/ 00:00 Introduction to the Podcast00:40 Meet the Guest: Mark McDonough, CEO of ChromaCode01:47 Mark's Journey to ChromaCode06:05 Insights on Leadership and Building High Performing Teams08:10 ChromaCode's Innovative Approach to PCR Testing10:36 ChromaCode's Contribution to Precision Medicine13:50 The Importance of Partnerships in ChromaCode's Strategy16:33 Future Prospects for ChromaCode18:27 Getting to Know Mark: Personal Interests19:13 Closing Remarks and Contact InformationAbout Mark McDonoughMark has over 25 years of experience helping build high growth HealthCare organizations. He is passionate about his team, his customers, and the patients that he and they are privileged to help serve. He most recently was the CEO of Pierian (now Velsera) which he led to a successful sale to Summa Equity, a private equity firm, in 2022. Prior to Pierian, he led CombiMatrix for five years, culminating in a sale to Invitae in 2017. Over his career, Mark has held various executive and commercial positions, and served as a US Naval Officer.Qualio website:https://www.qualio.com/ Previous episodes:https://www.qualio.com/from-lab-to-launch-podcast Apply to be on the show:https://forms.gle/uUH2YtCFxJHrVGeL8 Music by keldez

Plus: Yandex sells its Russian assets. And SoftBank-backed Invitae prepares to file for bankruptcy. Alex Ossola hosts.  Learn more about your ad choices. Visit megaphone.fm/adchoices

Mark McDonough CEO of ChromaCode, an innovator in molecular genomics providing easy to implement, cost-effective workflows within Oncology and Genomics. Mark has over 25 years of experience helping build high growth HealthCare organizations. He most recently was the CEO of Pierian (now Velsera) which he led to a successful sale to Summa Equity, a private equity firm, in 2022. Prior to Pierian, he led CombiMatrix for five years, culminating in a sale to Invitae in 2017. Over his career, Mark has held various executive and commercial positions, and even once served as a US Naval Officer. In this episode, we delve into Marks experience in the healthcare space and his thoughts on the future of healthcare with HDPCR technology, we discuss his experiences of growing and selling multiple businesses alongside the many lessons he learned along the way, he shares his advise in terms of what he looks for in potential board member and advisory roles alongside the reasons of why you may not want to consider such positions and his reasons for continuing to work within the healthcare sector Timestamps: [00:00:15] Delivering high-impact testing faster and cheaper [00:04:08] Lesser known facts of Lung cancer. [00:09:38] Developing targeted markers for lung cancer. [00:16:12] Add value to your tech team [00:20:52] Importance of Authenticity to success. Get in touch with Mark McDonough - https://www.linkedin.com/in/mark-mcdonough-b1055216/ https://www.chromacode.com/ Get in touch with Karandeep Badwal - https://www.linkedin.com/in/karandeepbadwal/ Follow Karandeep on YouTube - https://www.youtube.com/@KarandeepBadwal Subscribe to the Podcast --- Support this podcast: https://podcasters.spotify.com/pod/show/themedtechpodcast/support

12/28/20 - SRF Blog - https://curesyngap1.org/blog/10-reasons-we-chose-ciitizen-for-the-syngap1-digital-natural-history-study-srfdociitizen/   9/7/21 - Invitae Press Release Acquisition - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2021/Invitae-to-Acquire-Ciitizen-to-Strengthen-its-Patient-Consented-Health-Data-Platform-to-Improve-Personal-Outcomes-and-Global-Research/default.aspx   9/20/22 - Praxis uses ciitzen data for FDA submission for SCN2A https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html   10/25/23 - Pre-print of paper on SCN2A EEG Biomarker where ciitizen was involved https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1   12/1/23 - AES Poster - https://x.com/JillianLMcKee/status/1731420167672942878/   12/13/23 - Invitae Press Release Divest - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2023/Inv[…]h-Data-Platform-and-Implements-Further-Cost-Cuts/default.aspx   12/13/23 - Ciitizen Announcement - https://www.ciitizen.com/announcement/   Dream Team https://www.linkedin.com/in/nashafitter/ https://www.linkedin.com/in/faridvij/ https://www.linkedin.com/in/elli-brimble-82774798/ https://www.linkedin.com/in/deven-mcgraw-6650285/   Hope for Harper is still going, help us meet the $15k match! https://syngap.fund/harper  https://givebutter.com/uNxleH   The Juggle is Real Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real    Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 127 of #Syngap10 - December 14, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Invitae Corporation, Q3 2023 Earnings Call, Nov 08, 2023

Good morning from Pharma and Biotech Daily: the podcast that gives you only what's important to hear in the Pharma and Biotech world. ## Insulet CFO, Wayde McMillan, has left the company to join 3M's health spinoff. Baxter has hired a new CFO, Joel Grade, who previously worked in the food industry at Sysco for 25 years. Akura Medical has secured $35 million in funding to pursue FDA clearance for its thrombectomy device. Duke researchers have found that an app improves autism screening in a study funded by the NIH. Invitae's test for hereditary cancers has gained FDA de novo approval. The FDA has expanded its total product life cycle program to cover neurological devices and could enroll up to 45 additional devices over the next year.In other news, Lilly has announced changes to its executive team, with Mike Mason retiring and being replaced by Patrik Jonsson. Novartis has completed the spinoff of its generic drug unit, Sandoz. Sanofi will pay $500 million to collaborate with Teva on the development of an anti-gut disease therapy called TL1A. Moderna has claimed positive results in an early study for its combination COVID-19 and flu vaccine. A new report shows that only two out of eight biotech companies that priced offerings since July 1 are currently trading at or above their debut share price.Moving on to healthcare industry news, Kaiser Permanente workers have initiated the largest strike in history. Progressive lawmakers Elizabeth Warren and Pramila Jayapal have called for closer examination of the $3.3 billion deal between UnitedHealth and Amedisys. A report from Fitch Ratings suggests that nonprofit hospitals will continue to face labor-related challenges. Molina has lost the anticipated Indiana Medicaid contract.French pharmaceutical company Sanofi has signed a potential $1.5 billion deal with Teva Pharmaceuticals. The FDA has raised concerns about Amgen's confirmatory trial for its lung cancer drug Lumakras. Ten companies have registered to participate in Medicare's drug price negotiation program. Regeneron and Intellia are expanding their collaboration on CRISPR/Cas9 gene editing. Eli Lilly is deepening its oncology pipeline with the acquisition of Point Biopharma. Boehringer is offering an unbranded biosimilar at an 81% discount to AbbVie's Humira. Several biopharmaceutical companies have recently implemented layoffs. The FDA has rejected Lilly's eczema treatment.Investors are funding longevity companies that focus on developing therapeutics to interfere with the aging process. Some companies have managed to secure funding despite a decline in investment in the sector. Ten companies have registered to participate in the Medicare drug price negotiation program. Eli Lilly is shuffling its executive team as it awaits FDA approval for its weight loss drug. The

Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt.Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83 Pods - Review! Five stars! - Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 - S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 - Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687 - Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525CHOP - Sign up! https://drive.google.com/file/d/1eCVGmQ5b3RfL0ZiMpjoWIgVpFaSfEVOh/view?usp=drivesdkILAE Dublin was a great success - - Ana's Tweet: https://twitter.com/CNSdrughunter/status/1699754342125847023 - Ana's Webinar: https://www.syngapresearchfund.org/webinars/treatments-in-development-for-epilepsy-syndromes-opportunities-for-syngap1Warriors - Sign up - https://www.syngapresearchfund.org/syngap-warrior/addisonConference - Sign up by Halloween - We need head counts. - Registration link: https://Syngap.Fund/Orlando - Hotels ASAP: https://Syngap.Fund/2023hotel - Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Presentations - Pharma - To follow https://syngap.fund/23 - UCB-Digital Health - Agenda - https://med.stanford.edu/ucbcollaborative/events/2023-digital-health-symposium.html#agendaSign up for Ciitizen. https://www.ciitizen.com/SYNGAP1/SRF/ - It matters, this data is bringing data to companies & making SYNGAP1 more attractive. SHARE YOUR DATA. - If you have issues, email Virginie and Mequel. CANNONBALL 3 is coming! October 4-6. Takeover coming soon. - Monica is going on the road! https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012 Share your time and blood too!Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 114 of #Syngap10 - September 10, 2023#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt. Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83    Pods - Review! Five stars! - Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 - S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818  - Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687  - Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525   CHOP - Sign up! https://drive.google.com/file/d/1eCVGmQ5b3RfL0ZiMpjoWIgVpFaSfEVOh/view?usp=drivesdk   ILAE Dublin was a great success -  - Ana's Tweet: https://twitter.com/CNSdrughunter/status/1699754342125847023 - Ana's Webinar: https://www.syngapresearchfund.org/webinars/treatments-in-development-for-epilepsy-syndromes-opportunities-for-syngap1   Warriors - Sign up - https://www.syngapresearchfund.org/syngap-warrior/addison   Conference - Sign up by Halloween - We need head counts.  - Registration link: https://Syngap.Fund/Orlando    - Hotels ASAP: https://Syngap.Fund/2023hotel   - Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Presentations  - Pharma - To follow https://syngap.fund/23    - UCB-Digital Health - Agenda - https://med.stanford.edu/ucbcollaborative/events/2023-digital-health-symposium.html#agenda - Sign up for Ciitizen. https://www.ciitizen.com/SYNGAP1/SRF/   - It matters, this data is bringing data to companies & making SYNGAP1 more attractive.  SHARE YOUR DATA.  - If you have issues, email Virginie and Mequel.    CANNONBALL 3 is coming!  October 4-6.  Takeover coming soon. - Monica is going on the road! https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012    Share your time and blood too! Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611   This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here  - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 114 of #Syngap10 - September 10, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Invitae Corporation, Q2 2023 Earnings Call, Aug 08, 2023

Alex Furman, the co-founder and CEO of Performica and co-founder of Invitae, has had an intriguing journey from his birthplace in the Soviet Union to leading two successful tech-based ventures and a nonprofit supporting Ukrainian refugees. His startup, Invitae, has acquired funding from top-tier investors like SoftBank, Deerfield Management, Genesys Capital, and Decheng Capital.

For risk-tolerant investors who love a good thrill, there are few industries more exciting than biotechnology. He Jiankui shocked the world in 2018 by announcing he'd genetically modified twins born in China. Two years later, Jennifer Doudna and Emmanuelle Charpentier shared the Nobel prize for developing CRISPR, and a globally-coordinated effort was embracing Moderna's innovative new mRNA approach to develop a COVID vaccine and make it universally available. Gene editing found its way into the clinic, enabling a new wave of checkpoint inhibitors to help the body proactively find and detect cancer. A more comprehensive understanding of the human genome - made possible by the cost of sequencing falling bellow $500 - has unlocked a new field of diagnostics to proactively screen patients. NVIDIA's recent investment in Recursion is the latest move to introduce AI into health care. Yet there are also several challenges that face this industry's extreme pace of innovation. Patent infringements are common, as the courtroom is continually used to determine who owns the most cutting-edge IP. Payments are still largely in the hands of insurers, who are still figuring out how to reimburse for proactive treatments. Patient privacy and regulations are polarizing topics that have kept several tech companies at bay. And several of the industry's most important players are undergoing leadership changes, which could result in consequences that impact both their customers and the system at-large. How should investors approach this roller-coaster that we call the biotech industry? Are there exciting new trends and scientific breakthroughs that demand our attention? Are there larger companies who capitalize on those trends by providing the picks and shovels to enable them? Are there smaller, 'off the radar' companies who are risky but also offer enormous potential upside? To help us answer those questions, we've brought in Manisha Samy, who has spent her career in health care and seen it from several different angles. 7investing CEO Simon Erickson begins by asking Manisha what she's most excited about in health care today. Manisha explains that AI is finding its way into new opportunities and that NVIDIA's recent $50 million investment in Recursion could be a good sign that AI is becoming more prevalent in drug development. Genomic sequencing leader Illumina has unlocked quite a bit of information about the human genome. This will help not only for designing new drugs, but could also unlock new breakthroughs in computing as well. The two then dive deeper into Illumina, whose short-read sequencing approach has reduced the cost of sequencing the human genome from $3 billion to less than $500 over the past two decades. Yet Illumina's spin-off and then attempted re-acquisition of its GRAIL subsidiary is facing scrutiny from customers, investors, and regulators. The FTC is demanding Illumina divest GRAIL due to antitrust concerns, the EU is slapping Illumina with fines for violating its process, and activist Carl Icahn has gotten a seat on the Board while Francis DeSouza has resigned as CEO. Is Illumina still a good company to invest in? Simon and Manisha then turn to Invitae, who is an adopter of Illumina's sequencing technology to provide diagnostics to screen for genomic variants or even cancers. After years of aggressively making acquisitions to support its top-line growth, Invitae is now undergoing a turnaround to fix several of the financial issues it's gotten itself into. Manisha discusses her thoughts on the company and it's bigger-picture vision and strategy. In the final segment, Manisha introduces three small-cap biotechnologies companies that she believes should be on the radar of interested investors: Nanostring Technologies, Ginkgo Bioworks and Caribou Biosciences. Don't miss out on future conversations like this! Join 7investing's free email list to get our podcasts and investing insights delivered directly to your Inbox! --- Send in a voice message: https://podcasters.spotify.com/pod/show/7investing/message

Invitae Corporation, Q1 2023 Earnings Call, May 09, 2023

We've talked about genomics in relation to medications, and precision medicine using DNA panels.  In this episode, we narrow it down with Dee McKnight, a genetic specialist in the epilepsy community.  Dee has been a part of the effort to bring genetic testing as a common diagnostic practice from the early days.  Enjoy this eye-opening episode, and share with everyone, as it has the possibility to save lives. Here are links to the papers Dee references in our conversation: Mostly kid's testing results: https://onlinelibrary.wiley.com/doi/10.1002/epi4.12348 Adult epilepsy study: https://ng.neurology.org/content/8/1/e650 Doctor's changes to clinical management and patient outcomes study: https://jamanetwork.com/journals/jamaneurology/fullarticle/2797510   Dr. Dee McKnight is board-certified in clinical molecular genetics by the American Board of Medical Genetics and Genomics. She has more than 10 years of experience in the genetic diagnostics field and is currently a Senior Medical Affairs Director at Invitae. Prior to joining Invitae, Dr. McKnight was the director of the neurogenetics testing program at GeneDx, where she specialized in genetic testing for patients with epilepsy and intellectual disability. Dr. McKnight earned her doctorate degree at Penn State University and completed post-doctoral training at the NIH. While at the NIH, she was a research fellow at the National Institute of Dental and Craniofacial Research for 5 years, during which she also completed her board-accredited clinical molecular genetics training fellowship at the National Human Genome Research Institute. “Seizure Salad, ~Fustercluck Epilepticus~”, is produced & hosted by Micah Ball Original Logo and Graphic Design by Alba "Lupi" Lopez The song “Seizure Boy” courtesy of Watsky, and used with permission. Find more great music & poetry on his website, GeorgeWatsky.com   Thanks for listening! Mad Gratitude, ~Micah Unexpect the Expected

Welcome to episode 036 of the podcast.  In this episode of 3-Minute Thursdays, 25th Histio Ambassador, Nate Milam talks about the power of pharmacogenetics and how you can take pain management into your own hands. Join us every week and escape for 3 short minutes into a place of hope and encouragement on your histio journey. Nate is the 25th Histio Ambassador and an HLH survivor.  Resources mentioned in the podcast: Invitae - https://www.invitae.com/en We'd love to hear your feedback!  Let us know if a 3-Minute Thursday touched you!  Reach out to podcast@histio.org and tell us your thoughts. Music: Walk Together by Olexy --- Support this podcast: https://podcasters.spotify.com/pod/show/histio/support

This is a special episode from our new show “Engineering Founders” - Lizzie Matusov, CEO & Co-Founder @ Quotient, shares her unique founder journey – from Harvard's dual-degree grad program & Innovation Lab to founding Quotient! She also reveals strategies for fundraising, including utilizing your relationship pipeline, incorporating story arcs into your pitch, overcoming pattern-matching bias, and how fundraising today is different than it used to be. We also cover Quotient's major pivots, tips for not becoming too attached to your first idea & making space for new ideas, defining idea-mazing & its impact on your product, and developing clarity as a founder. For more episodes of Engineering Founders, subscribe here: https://engineering-founders.simplecast.com/ABOUT LIZZIE MATUSOVLizzie Matusov (@lizziematusov) is the co-founder and CEO of Quotient - a toolkit to supercharge engineering teams. Today, their first tool is an onboarding platform that leverages behavioral research best practices to ramp up engineers more effectively. Quotient's mission is to democratize access to the best engineering cultures.Previously, Lizzie built software to improve access to medical-grade genetic testing at Invitae. She was also a software engineering consultant at Red Hat, where she built software applications for companies across various industries, including fintech and biotech. She holds a bachelor of science from UCLA, and an MBA and Masters of Engineering Sciences from Harvard."Let's say in a four-month period, you check in with investors or founders that you're working with two or three times. Now what they have is not just one call to base their opinion on, but an entire story arc that they can use to say, 'All right, in August they were doing this and by October they already did this, and then by December they were here. I'm now seeing sort of a preview of what I'm backing.' I think that that really helps founders sort of help investors make decisions, right? You are de-risking for them, you are sharing more of the milestones as you're doing them.”- Lizzie Matusov   ABOUT QUOTIENTQuotient is a toolkit to supercharge engineering teams. Their mission is to democratize access to the best engineering cultures.Today, their first tool is an onboarding platform that leverages behavioral research best practices to ramp up engineers more effectively. With Quotient you can build and deliver a high-quality, research-backed onboarding experience, and get data-driven insights into how your team changes and grows together.Check out Quotient and join the waitlist HERE - https://www.getquotient.com/waitlistLooking for ways to support the show?Send a link to the show to your marketing team! https://sfelc.com/podcastsIf your company is looking to gain exposure to thousands of engineering leaders and key decision-makers, we have sponsorship opportunities available.To explore sponsor opportunities, email us at hello@sfelc.comCheck Out Engineering Founders!We cover the stories, pivotal moments and critical insights from former engineering leaders turned founders - that helped them take the earliest steps to launch!You can find it wherever you get your podcasts - Spotify / Apple / Google / WebSHOW NOTES:The backstory behind Quotient (3:01)Why the atomic unit is the team, not the individual & how that impacts Quotient (4:03)Lizzie's leadership journey before Quotient (5:25)Why Lizzie chose Harvard's dual-degree grad program as part of her founder's journey (8:43)How Harvard's program helped Lizzie accelerate founding Quotient (12:43)The community aspect of entrepreneurship & Harvard's Innovation Lab (15:48)Lizzie's favorite grad school hacks (17:58)Frameworks behind Quotient's key pivots (20:12)How Quotient pivoted to better support companies & the onboarding process (23:02)Tips for making space for new ideas (25:59)Defining idea-mazing & how it impacts your product / solution (28:13)Where Quotient is in terms of fundraising (31:02)How assumptions & expectations around fundraising have changed (32:43)Collect data points that show your ability to execute, lead, & grow (34:06)Strategies to help overcome pattern matching bias (36:09)How Lizzie utilized story arcs while fundraising for Quotient (38:32)Why clarity as a founder is vital & frameworks for developing clarity (41:05)The renaming process & unveiling the new name “Quotient” (44:52)Rapid fire questions (46:38)LINKS AND RESOURCESShantaram - Gregory David Roberts' novel following an escaped convict with a false passport who flees maximum security prison in Australia for the teeming streets of Bombay, where he can disappear. Accompanied by his guide and faithful friend, the two enter the city's hidden society of beggars and gangsters, prostitutes and holy men, soldiers and actors, and Indians and exiles from other countries, who seek in this remarkable place what they cannot find elsewhere.The Big Short: Inside the Doomsday Machine - Michael Lewis documents the real story of the crash that began in bizarre feeder markets where the sun doesn't shine and the SEC doesn't dare, or bother, to tread: the bond and real estate derivative markets where geeks invent impenetrable securities to profit from the misery of lower- and middle-class Americans who can't pay their debts. The smart people who understood what was or might be happening were paralyzed by hope and fear; in any case, they weren't talking.The Long Way To A Small, Angry Planet - Becky Chambers' novel following a motley crew on an exciting journey through space—and one adventurous young explorer who discovers the meaning of family in the far reaches of the universe.This episode wouldn't have been possible without the help of our incredible production team:Patrick Gallagher - Producer & Co-HostJerry Li - Co-HostNoah Olberding - Associate Producer, Audio & Video Editor https://www.linkedin.com/in/noah-olberding/Dan Overheim - Audio Engineer, Dan's also an avid 3D printer - https://www.bnd3d.com/Ellie Coggins Angus - Copywriter, Check out her other work at https://elliecoggins.com/about/

Rare diseases, despite their name, are more prevalent than one might expect, impacting up to 10% of the population, particularly children. But a staggering 95% of the 10,000 known rare diseases remain without effective treatments, posing an immense challenge for affected families, foundations, and scientists working tirelessly to remedy the situation.Nasha Fitter (CEO, FOXG1 Research Foundation and VP, RWE and Ciitizen Platform at Invitae) joins CareTalk to explain the importance of rare disease research and why there is hope on the horizon.ABOUT CARETALKCareTalk is a weekly podcast that provides an incisive, no B.S. view of the US healthcare industry. Join co-hosts John Driscoll (President U.S. Healthcare and EVP, Walgreens Boots Alliance) and David Williams (President, Health Business Group) as they debate the latest in US healthcare news, business and policy.ABOUT NASHA FITTERNasha Fitter is a leader in the rare disease space known for her breakthrough work on utilizing real world evidence to accelerate treatments. She is the mother of a child with the rare neurological condition, FOXG1 Syndrome, and co-founded and leads the FOXG1 Research Foundation. Nasha is also the VP of Ecosystem Partnerships at genetic testing company Invitae. Nasha serves on the board for the ACMG Foundation for Genetic and Genomic Medicine and has an MBA from the Harvard Business School.Learn more about FOXG1 Research FoundationLearn more about FOXG1 Syndrome Dive deeper into this episode and read our article, "Rare Disease Research and Its Potential To Unlock Medical Mysteries." JOIN OUR NEWSLETTERGET IN TOUCHBecome a CareTalk sponsorGuest appearance requestsVisit us on the webFOLLOW CARETALKSpotifyApple PodcastsGoogle PodcastsFollow us on LinkedInProduced by Grippi Media#raredisease #rarediseases #rarediseaseday #science #healthcare #health Subscribe to the CareTalk Newsletter to access exclusive content and insights covering the biggest topics in healthcare today. Produced by Grippi Media

Invitae Corporation, Q4 2022 Earnings Call, Feb 28, 2023

JCO PO authors Dr. Edward Esplin and Professor Heather Hampel share insights into their JCO PO commentary, “Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer” and discuss practical implications of testing for patients, geneticists, and clinicians. Host Dr. Rafeh Naqash, Dr. Esplin, and Professor Hampel discuss standard of care guidelines, insurance coverage, and benefits of testing. Click here to read the article! TRANSCRIPT Dr. Abdul Rafeh Naqash: Welcome to ASCO's JCO Precision Oncology Conversations, where we bring you the highlights and overview of Precision Oncology. Episodes will feature engaging conversations with authors of clinically relevant and highly significant JCO PO articles. These articles can be accessed at ascopubs.org/journal/po. Hello and welcome. My name is Dr. Abdul Rafeh Naqash. I'm a medical oncologist and assistant professor at the OU Health Stephenson Cancer Center. I'm also the social media editor for JCO Precision Oncology, and you're listening to JCO Precision Oncology Conversations podcast.  Today I am thrilled to be talking with Dr. Edward Esplin and Professor Heather Hampel about their recent paper, ‘Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients with Solid Tumor Cancers'. Heather Hampel is the associate director in the Division of Clinical Cancer Genomics and is a professor in the Department of Medical Oncology and Therapeutics Research at the City of Hope National Medical Center. Dr. Edward Esplin is a clinical geneticist and also the Head of Clinical Trials at Invitae in San Francisco, California.  For the purpose of this podcast, we'll be referring to each other using our first names. So welcome both Heather and Ed. Thank you for joining us today.  Dr. Edward Esplin: Thank you, Rafeh.  Professor Heather Hampel: Thanks for having us.  Dr. Abdul Rafeh Naqash: Well, first of all, I'd like to start by discussing some of the context behind this very interesting commentary. For the sake of our listeners, this is one of our first commentaries that we're doing a podcast on because this is very clinically relevant, especially for patients with cancer and without cancer, as I was reading through this commentary. So could you tell us, Ed, what prompted you to start this commentary, and what was the context of and the importance behind why something like this would make a difference in the clinical care of patients with cancer?  Dr. Edward Esplin: Yes, I'd be glad to. I think that we have seen over the past couple of years an ever-growing application and opportunity for application of precision therapies in patients with cancer of various kinds. And there has been with that a growing amount of evidence connecting germline genetic variants of a pathogenic nature with various types of cancer, breast cancer being one of the ones that is the most prominent. And as we've seen this evidence accrue in cancer types such as breast, which has probably got the longest history of a connection to germline genetics, but also accruing in other cancer types such as pancreatic cancer, prostate cancer, ovarian cancer, colorectal cancer, it became clearer and clearer that there is evidence to support a broader application of germline genetic testing than is currently the standard of practice. In part driven by the desire for access to these precision therapies that are driven in part by patients' germline genetic makeup and for the opportunity that germline genetic testing results have for affording patients potential access to clinical treatment trials - so the cutting edge of what is driving some of these treatment opportunities - and reviewing the amazing amount of work that has been done by a number of people across the country and across the world to support these opportunities and support this becoming more and more the standard of care really motivated us to do this project together, and we've been fortunate to have been involved in a number of the studies that we review in this commentary.  Dr. Abdul Rafeh Naqash: Thank you so much for that explanation, Ed. So, Heather, you, and both Ed, have obviously led and been part of a lot of work in this space and have developed guidelines in this space. For the sake of our listeners, whether they are clinicians or patient advocates, what are the current guidelines behind germline testing for patients with cancer and patients without cancer?  Professor Heather Hampel: That's a really good question, and that's a lot of what's driving it for me, just from a clinical perspective.  So currently, we mainly use the NCCN guidelines in the US for deciding when a patient is appropriate for germline genetic testing. And they only recommend or suggest considering germline genetic testing for all cases of three particular cancers: all cases of ovarian, pancreatic, and, most recently, this summer, all cases of colorectal cancer, they've said you could consider offering germline testing to. The other one that has a recommendation is prostate cancer, but that's restricted to patients with metastatic or advanced prostate cancer, so it's not all prostate cancers. When you look at the guidelines, you ask yourself, how did they decide that? Was it based on the prevalence of finding a germline mutation? Because if it was, there are several other cancers where germline mutations are just as prevalent, but that recommendation has not been made.  And what is happening really on the front lines is that some patients are not having access to genetic testing because we have very complex criteria requiring ages of diagnosis, certain tumor markers, particular family history constellations that make the criteria difficult to use for frontline primary care physicians and patients deciding who needs referred, and do I need to see cancer genetics? And how much more straightforward would it be if we just said everybody with cancer needs gene testing? At this point, we pulled the data together for this commentary. We feel like the odds of testing positive are high enough in every single solid tumor to support a change in the recommendations like that.  Dr. Abdul Rafeh Naqash: Thank you. And from the data that you highlight in this commentary, apart from the tumors that you mentioned, Heather, that have recommendations for germline testing, what other tumors would you try to incorporate this in subsequently as a first, second, third approach, maybe if you can't get to all tumors at the same time?  Dr. Edward Esplin: I would say that one of the ones that we would highlight, I think, also, is breast cancer, right? That's one that there's a clear link. And as Heather appropriately noted, while a universal guideline per se has not been established by the NCCN for breast cancer, about three years ago now, based on a publication in Journal of Clinical Oncology, there was the observation that the guidelines that existed at that time did not find a significantly increased number of pathogenic germline findings in patients who met the criteria as they existed at that time compared to those patients who did not meet the criteria. And based in part upon that data, the American Society of Breast Surgeons came out with guidelines that recommended, indeed, the time is now for universal germline genetic testing for all patients who have been diagnosed with breast cancer. So I think that one's another one that there's a great deal of opportunity for that to be implemented, consistent with what Heather has already noted.  And I think there is also data that's been presented at ASCO here very recently, suggesting that similar evidence supports testing not just for metastatic prostate cancer but possibly for a broader collection of prostate cancer patients as well, perhaps all of them with a similar finding where in a prospective observational cohort of unselected patients with prostate cancer. Again, when you applied the current guidelines for testing, there was no statistically significant difference in the number of actionable pathogenic germline findings in patients who met the current criteria compared to those who do not. Which unfortunately suggests that all those patients who are being excluded when we adhere to these guidelines are not able to access the genetic information that could be crucial to their treatment. And it's just because they're not being considered, even though there is a significant fraction of those individuals who do have germline genetic information that could impact their care and possibly the preventive care of their at-risk family members as well.  Professor Heather Hampel: And, Ed, let me add a study I did with you and your team on endometrial cancer. So the truth is, Rafeh, we don't want to pick. We want all solid tumor patients to get germline genetic testing through a multigene panel. But I think if we did have to pick, I would also add endometrial. We did a study of nearly 1000 unselected endometrial cancer patients in the state of Ohio and found just over 10% had a pathogenic variant in a cancer susceptibility gene. And you really could not predict, based on personal or family history factors, who was going to test positive.  Dr. Abdul Rafeh Naqash: And that was definitely something interesting that I caught in this commentary as I was going through it. One of the sentences that was definitely interesting for me was where you mentioned that these guidelines should include risk factors beyond family history and just testing for genes beyond BRCA1 and BRCA2, which are commonly identified entities associated with germline testing, that prompt germline testing.  But one of the other things is the financial aspect of it, which you have highlighted in your commentary. So, I wanted to briefly touch on that and understand what are the policies. It seems like different coverage policies cover different aspects of germline testing, so that's number one. Could you comment on that? And number two, a few years back, there has been an effort you might have heard of related to TMB or Tumor Mutational Burden Harmonization. Could there be some sort of harmonization to identify what are the most important testing genes that are or should be covered by some of these insurance policies? And could you highlight some of the aspects around that?  Dr. Edward Esplin: That's an excellent point. And what we have found has been the course this usually proceeds through is when the guidelines have established what the criteria should be for testing, then, over a certain period of time, naturally, the various insurance payers will then incorporate this into their medical policies. And, for better or for worse, this takes time. I think, in the opinion of most, the time that it takes is unfortunately prolonged for reasons that I don't personally understand.  But noting a bright spot, I'll highlight that UnitedHealthcare has actually taken the step of instituting a very patient-first medical policy. They did this back in 2020, where they recommend and consider medically necessary standard of care germline genetic testing for any patient who has a diagnosis of any cancer that is associated with Lynch syndrome. So meaning that any patient covered by their policy who has a personal diagnosis of colon cancer, endometrial  cancer, the long list of cancers associated with Lynch syndrome, qualifies for germline genetic testing. And that's covered as part of the standard of care, which is a great move in the right direction for this, the largest private commercial insurance provider in the United States.  Now, do we need to see more of that? We absolutely do, because, as Heather's already noted, there is an access issue, and there is a disparity issue for those individuals that don't meet the criteria of their own insurance policies, medical policy, they don't have access. And that requires them, if they choose, to get germline genetic testing, to pay an out-of-pocket cost of $250 or more, depending. And that may be something that is simply not accessible to individuals. And so there's a tremendous amount of effort that needs to be done to incorporate the guidelines as they currently exist into medical policy.  And I think, to your point as well, the discrepancies between various medical policies is certainly a challenge, and I don't have a good answer for how to address that. But it is frustrating, to say the least, that any clinician has to guess what their own particular patient that's sitting in front of them right now has in terms of medical policy coverage for germline genetic testing. And then that should in any way cause them to have to second guess ‘How am I going to get the standard of care to this patient?' One of the other challenges that that potentially raises is, as we noted in our commentary as well, unfortunately, even for those cancer types where there is an established recommendation for universal germline testing, there is nowhere near the implementation of that that there ought to be.  For ovarian cancer, I think it's in the neighborhood of 30% of patients with ovarian cancer are getting this testing. For breast cancer, I think it's 25%. I can't remember if this was cited in this paper or not, but in a recent publication that we did with collaborators from Optum Health, we found that 5% or less of colorectal cancer patients who fell under this very progressive UnitedHealthcare policy were getting testing where everyone qualified for it under the medical policy. And so it really raises concerns about these missed opportunities in the setting of not effectively implementing germline genetic testing even when it is already recommended as the standard of care for the guidelines as they currently exist and not to be available to many more patients with various cancer types, as we've already noted.  Dr. Abdul Rafeh Naqash: Thanks for highlighting some of those very extremely important points. And, to your point, it's not implemented as much as it should.  Heather, have you, or others in this field, tried to understand what are those exact barriers that maybe me, as a clinician who sees at least patients with cancer, should know, or any other community-based oncology practice physician, should know that these are patients where testing is important and will have clinical implications. But what would be the barriers that potentially do not result in as much of a higher implementation of this testing than one would expect?  Professor Heather Hampel: Well, you may be surprised to hear this coming from a genetic counselor, but I've become convinced over the years that requiring pretest genetic counseling is one of the biggest barriers that actually keeps patients from getting genetic testing when it's appropriate. And not that we're trying to be, but just that we have long wait times. Patients may have a lot of appointments because of a new cancer diagnosis, and they're overwhelmed. It just adds one more thing that's a little difficult.  And so, I really am interested in flipping the paradigm, and this is what we're doing at City of Hope now, currently, which is offering a precision medicine or a mainstreaming approach, where every single patient at the institution is offered germline genetic testing regardless of age, regardless of family history, regardless of tumor type. And then, believe it or not, this actually supports hiring more genetic counselors because you're dealing then with thousands of results that need to be hand-reviewed, and all positives, of course, get invited in for full post-test genetic counseling. And that saves that resource, that scarce resource of genetic counseling for the people who need it the most, the people who tested positive, whose family members need testing, who need to implement all the management that comes with testing positive.  I find those sessions much more rewarding because I can be much more helpful for the patient and the family, and our negative patients, or patients with variants of uncertain significance, get templated letters. We've got a team of genetic counseling assistants that are helping get those out because, of course, that's the majority of patients. But if they have questions or concerns or a strong family history, they can, of course, come in for post-test genetic counseling, too. But I think we're on the cusp of switching the paradigm of how cancer genetics is delivered, and that's really the only way to get it at scale to the large number of patients who actually need it.  Dr. Abdul Rafeh Naqash: Thank you. And, to that point, I wanted to say that, as cancer care becomes more and more multidisciplinary, it's right there in front of us that, I think, genetic counselors or clinical geneticists need to be part of these multidisciplinary teams, whether it's through molecular tumor boards or outside of molecular tumor boards. But I think that's where the gap is, at least from what I see on my end. And that's where communication gaps create issues. I recently had at least two patients in their 30s and 40s, one with a PALB2 and another with the CHEK2 alteration and initially identified on liquid biopsy, actually, and that prompted me to check for germline testing. And lo and behold, both were positive. And that resulted, as Ed, you mentioned, cascade testing and eligibility for trials, both ended up on different DNA damage-based trials. So, definitely a lot of clinical implications.  In your practice, when you were on the academic side, Ed, did you have instances where you definitely could see a lot of difference with respect to clinical management of a patient when such an event was identified when a pathogenic germline alteration was identified? And could you give us a few examples so that listeners maybe could try to understand better how some of these things can have significant clinical implications?  Dr. Edward Esplin: Well, I practiced when I was at Stanford in perhaps a little bit of a skewed environment, skewed to the better, where much of my interaction with patients with cancer and with molecular tumor board as well was in the setting of the Stanford Cancer Genetics Clinic. And so that's certainly highly enriched for well-informed individuals, very genetic-savvy medical oncologists. Obviously, the genetic counselors were the foundation there, and me, as a clinical geneticist, was actively involved in such a way that, yes, I think it made a lot of difference from the standpoint of patients with cancer, knowing what all of their options were. And in a number of cases also, the first thing, I think that at least from my standpoint, thinking about genetics a lot that many patients want to know is: why do I have this cancer? Did I do something to cause this? What's the underlying reason for this? And being able to either provide them reassurance that this was not something that was genetic, that this was not something that anyone in their family needed to be particularly concerned about, or that there was anything further that needed to be done about that. Versus the alternative, each of those answers was incredibly valuable to the patient and the patient's family for the reasons I think that you already alluded to.  If there is a genetic cause, then there are known actions that can be taken, whether it's an approved precision therapy or a clinical treatment trial. But then I think equally important, especially in those families where there was a known history of various cancers, and this is the first person who had any genetics done, then being able to share with that patient and with the patient's family that they're going through an excruciating disease course, but there is an opportunity for some of that to be mitigated, some of that risk to be mitigated in their family members; I think brought a certain amount of, I don't know if reassurance is the right word, but it was valuable and was greatly appreciated by those individuals.  One situation that I recall actually was a patient that– I can't remember what her age was, she was probably in her 40s or 50s, but she had developed a colorectal cancer. She had had appropriate germline genetic testing performed and had had a variant identified; I believe it was one of the Lynch syndrome genes, I'm not recalling exactly right now. But while she was undergoing her treatment, I mean, to her credit, she went right away to her family in particular, to, it happened to be her son who was one that got tested, and he was, I think, late teens, maybe early 20s, he had tested positive for the same thing. She made sure that he went in, he got his colonoscopy right away, and lo and behold, right, they find an advanced polyp in this 20-year-old kid that, had that not been done, that would have been identified in just a very tragic way. And yet, as a result of her taking charge and having the information that she needed to take charge for herself and for her family members, a cancer was literally prevented. And that individual's life was prolonged, if not saved, because of that action being taken on behalf of that individual who had the information they needed to do that.  Professor Heather Hampel: Yeah, I would just add I was talking to some of the docs at one of our network sites recently and talking about all of these benefits, which are 100% clear and really also hitting on the targeted therapy benefit quite a bit. And they reminded me of another benefit which we all often forget, and that is even surgical decision-making. So if we got this done early enough, there are certainly patients who have BRCA mutations who might elect to have bilateral mastectomies instead of a unilateral mastectomy or a lumpectomy and patients with Lynch syndrome who might elect to have a subtotal colectomy instead of a segmental resection. And again, this is where not only do we need to be offering this to everybody, but we need to be offering it early at the time of biopsy-proven cancer in some cases, where it could actually affect even their surgery.  Dr. Abdul Rafeh Naqash: Absolutely. And thanks, Ed, for highlighting some of those interesting and important examples.  Now, Heather, when we talk about 80%-85% of the places in the country, at least in the US, they may or may not likely have access to experts like yourself or elaborate, broad, experienced teams that you guys have been part of. So on the oncology side, in a clinic, we get a patient who gets next-generation sequencing done, a 500-600 gene panel where we may or may not have a geneticist, or the wait times are longer. What is your suggestion for individuals, both clinicians and for patients, in that setup? What are the things that one should think of to mitigate some of those delays in that setup where you may not get a geneticist to see that patient or a counselor to see that patient immediately? Looking at that sequencing panel, what couple of things would you think of should prompt a physician to refer a patient to a genetic counselor if it's on a need basis and not available for everybody?  Professor Heather Hampel: And you're talking about a tumor panel that's coming back.  Dr. Abdul Rafeh Naqash: Correct. I'm talking about NGS 600 gene panel because that's what gets done clinically every day, all day, when you're talking about patients with cancer. What are the few things that one should look out for?  Professor Heather Hampel: So there's some nice ESMO guidelines around this, and that's what we were using. Where I used to work, I would actually hand-review the tumor test that came in and kind of send an email to the docs when I said, "Hey, this may be germline. I think this patient needs a referral." Some of the labs are now calling those out themselves, which is nice. So if they're calling it out themselves, definitely pay attention to those boxes that say "Potential germline finding," and make sure you refer any patients with anything there. If you're using a lab that's not calling it out, certainly some of the rules—there's already guidelines - anyone with a BRCA1 or BRCA2 mutation found in their tumor should be referred, regardless of what kind of tumor they have. So that one's easy.  Some of the things I like to look at is what was the variant allele fraction. If it's around 50% or anything over 35%, you start thinking maybe that's germline, that's a nice red flag. Cautionary tales - every colon tumor has an APC mutation in it, so we don't want those referred to genetics. Most of them don't have familial adenomatous polyposis. So only send a patient with an APC mutation in their colon tumor if they– in the setting of polyposis. Same goes for TP53. You're going to find that in almost every tumor, and very few of them are going to have Li-Fraumeni Syndrome.  So in the ESMO guidelines, I believe in addition to having a TP53 and an APC around a VAF of over 35%, they want to see it in a young age tumor so that you have an indication that you might be dealing actually with Li-Fraumeni syndrome. The Lynch syndrome genes, I think the common genes, if you see a mutation in them, go ahead and refer. Consider the variant allele fraction and then beware of genes that are commonly mutated in all cancers because most of those won't be hereditary, and genetics can't handle seeing every single patient who has a TP53 mutation in their tumor. So we need to see an early age or some strong family history in those cases.  The other thing just to point out, because there are long waits and not everybody has a genetic counselor or geneticist on staff is COVID turned out to have a little silver lining for the genetics community, and that is cancer genetics transition very well to televideo medicine. And there are now multiple companies providing televideo medicine. And you can usually get your patient in within a day or two for a televideo genetic counseling appointment. And so, just be aware if you can't get them to an in-person clinic in a timely manner, there are many, many televideo companies now providing genetic counseling services remotely from the comfort of their own home within two days' notice, evening appointments, weekend appointments to make it convenient for the patient. I don't work for any of those companies, but I would say just that people should be aware that those options exist so that their patients don't have to have a long wait time. Dr. Edward Esplin: Just one quick thought along those lines. And in the context of the commentary that we talked about, I think there is a good rationale that if the patient that we're talking about with respect to receiving the tumor profiling NGS they're having any of those solid tumor types that we're discussing, it does make a lot of sense now to order that Germline genetic test at the same time that they're getting that tumor test. And doing that via what I've heard described in the literature is a mainstream approach where the clinical oncologist can be the person who is initiating both the tumor test and that germline genetic test. Get both those things cooking at the same time, such that when you're getting those results back, and in many cases, you'll probably get the germline results back sooner, then you don't have to ask those questions. And the referral to genetics can take place at the same time as well, potentially, where those results can then be discussed in detail. And I say that in part because testing all these patients with these tumor types that we've described and taking a more universal approach can make a lot of difference, for example, in patients having the information they need to actually prevent or mitigate the risk for a second primary cancer.  We did a retrospective here a little while ago where we looked at patients who had received germline testing as a reflex to the tumor testing they'd received already. And appropriately so, I think, these savvy clinicians doing exactly what Heather described and referring them for germline testing. The unfortunate thing we found is in about 10% of the individuals that had a positive finding in their germline genetic test that was done as a downstream effect from their tumor profiling test, they had had this done on the second cancer that they had developed. And the genetic result that they received in their germline test was consistent with their first cancer that they had developed. In fact, if they had the germline testing done with the first cancer that they had developed, they would have the opportunity to have had that second cancer either downstaged by screening or completely avoided in its entirety with that information being at hand. And of course, it's practically unconscionable that a patient who has successfully defeated cancer, beat it back into remission, would need to be at unknown increased risk of a second primary tumor simply for lack of getting germline genetic testing at the time when they were first diagnosed with cancer.  Professor Heather Hampel: And not to pile on, but I'm a big fan of paired tumor and germline testing as well. And I'll just mention a Memorial Sloan Kettering paper which showed that about 10% of the mutations found on germline testing had been missed on the tumor testing because they were large rearrangements or some other type of mutation that tumor testing is really not designed to detect. So you also can't feel reassured by a normal tumor test that there isn't a germline mutation because that's not the purpose of the test, and it doesn't find every type of mutation. And so I am also a big fan of paired testing when you can get it. I also think it gives you some potential for sorting out variants of uncertain significance because you can look for second hits, et cetera. So again, I think that's the future of cancer genetics. Dr. Abdul Rafeh Naqash: Absolutely. And I learned a lot from all the stuff that you guys mentioned. And one of the things that you just mentioned that was on my mind was VUSs or Variants of Undetermined Significance. And briefly, I wanted to touch on VUSs. If I have a BRCA1, BRCA2 VUS, what should I do?  Dr. Edward Esplin: Nothing. Absolutely nothing.  Dr. Abdul Rafeh Naqash: Should I refer to genetics or just wait and watch? Dr. Edward Esplin: Well, I'll speak with my Invitae hat on. The waiting and watching, like you describe, I think, is very relevant because Invitae and other labs are actively involved in interrogating these VUSs on a routine basis. We see thousands of patients every day, and we see these VUSs popping up, and we're combing the literature on an ongoing basis. We're depositing new variants into ClinVar all the time, and that is part of what we consider to be our responsibility to continuously review the evidence underlying these VUSs.  And in fact, in a paper published, I think it was in JCO Global Oncology here pretty recently, we noted that over the course of about, I think it was a five-year retrospective of patients who had undergone breast cancer testing, that we looked at how many of those individuals had a variant of uncertain significance, for example, in BRCA 1 and BRCA 2, and over that period of time how many of them got reclassified, and if so, what was the reclassification. There was some small fraction that over that time period got reclassified. I think I'm going to say it's in the order of like 10% or 20% and I'm saying that wrong. But more importantly, of all of the ones that got reclassified over that five-year period of time, 10% or less ended up being pathogenic or likely pathogenic. The vast majority of them ended up being benign or likely benign, which just underscores there's nothing that needs to be done for VUS when the evidence might ever accrue that would help to reclassify that. The vast majority of the time, it's going to end up downgrading it. That's not even the right term to use for a VUS. It's going to reclassify it as a benign or likely benign variant. And if it is something that should be actionable at some point in time, all of the reputable labs out there will notify clinicians of that change in status, and that is the time when action ought to be taken. Professor Heather Hampel: Yeah, I think that's one of the biggest cons people will have against offering germline testing to every patient is the high variant of uncertain significance rate and a fear that those patients will be mismanaged as positives, particularly in settings where there aren't genetics professionals on staff. And so I think that's a really important point. I remember when Mary-Claire King was with her Lasker Award recommending germline genetic testing for all breast cancer, all women actually, unaffected, to try and prevent breast cancer. She had suggested that in that setting, they maybe should not report variants out at all because of the risk of them being mismanaged, and I think it's an interesting idea. Most of the academic centers like to have them; sometimes, they like to work on getting some of them reclassified. But I think it's something we need to consider if we start doing testing at this large of a scale or just being sure that everybody knows that a variant of uncertain significance should be treated like a negative until proven otherwise. Dr. Edward Esplin: I'll pile on that just briefly to note that at ASHG American Society of Human Genetics just last year there was an entire session devoted to exactly that kind of topic, and it was broadly discussed, the potential opportunity to, for example, within a cancer gene multigene panel is that a panel where returning VUS is just not a useful thing to do, restricted to pathogenic, likely pathogenic. We do that on other panels already. We do that on panels for ostensibly healthy folks and other situations. So I think that is a very worthwhile approach to consider.  And at the same time, we've also seen in the literature, Heather brings up a concern that is broadly raised and repeatedly raised, we've seen evidence that clinicians are not acting inappropriately as much as they had done, perhaps in the past, that we're getting our house in order. Breast surgeons and other physicians are treating these things like the negative results that they, in reality, are, and so that in my opinion, the potential for increased VUS identification should not be an obstacle to folks getting clinically indicated testing because that's what's needed for them to have appropriate treatment and appropriate prevention. Dr. Abdul Rafeh Naqash: Absolutely. Well, this has been very engaging and very interesting, and hopefully, our listeners will feel the same. Thank you, both Heather and Ed, for joining us today and especially choosing JCO PO as one of the destinations for your very interesting commentary.  Thank you for listening to JCO Precision Oncology Conversations. If you like today's episode, please leave a rating and review. You can find all our shows, including this one, at asco.org/podcasts and continue to stay updated by following JCO PO on Twitter with the handle @jcopo_asco. All JCO PO articles and series can be found at ascopubs.org/journal/po. The purpose of this podcast is to educate and to inform. This is not a substitute for professional medical care and is not intended for use in the diagnosis or treatment of individual conditions.   Guests on this podcast express their own opinions, experience, and conclusions. Guest statements on the podcast do not express the opinions of ASCO. The mention of any product, service, organization, activity, or therapy should not be construed as an ASCO endorsement. Guest bios Prof. Heather Hampel, MS, is an Associate Editor of JCO Precision Oncology. She is the associate director in the Division of Clinical Cancer Genomics and is a professor in the Department of Medical Oncology and Therapeutics Research at the City of Hope National Medical Center. Dr. Edward D. Esplin, MD, PhD, FACMG, CGAF, FACP is board-certified in clinical genetics and internal medicine and completed his clinical fellowship training in medical genetics at Stanford University. He now works at Invitae. Guest disclosures (See also: Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients with Solid Tumor Cancers) Heather Hampel Stock and Other Ownership Interests: Genome Medical, GI OnDemand Consulting or Advisory Role: InVitae, Genome Medical, Pomega, 23andMe, GI OnDemand, Natera   Edward D. Esplin Employment: Invitae Stock and Other Ownership Interests: Invitae Consulting or Advisory Role: Taproot Health Inc  

Press is good!  - Short link: https://syngap.fund/nw - Long link: https://www.newsweek.com/my-son-syngap1-rare-genetic-condition-1776362 Jo Ashline in Invitae: https://blog.invitae.com/finding-andrews-truth-a-family-s-unexpected-rare-disease-diagnosis-e21e97da6baf   Episode 90 was good, remember to listen, #S10e90 https://www.youtube.com/watch?v=Mp4jHg-GXjE   Ciitizen is over 200! Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/  - Sign-UP https://ciitizen.com/syngap1    Conference Videos are up from Science Day! https://www.syngapresearchfund.org/post/2022-syngap1-conference-roundtable Grant applications due March 1, 2023 https://www.syngapresearchfund.org/professionals/grants/how-to-apply Priority Areas: - Biomarkers & Endpoints  - VUS Resolution - Characterizing SYNGAP1 patients in the literature  - SYNGAP1 Translational Science Help Research with this brief survey.  Tell a friend and share these links - 200 & counting, $50 each.  - Short link: https://syngap.fund/UCSF_survey - Long link: fd91u8h6784.typeform.com/to/cvMzzG9z?utm_source=advocacy_org&utm_medium=email&utm_campaign=predictive_tool_survey&utm_term=syngap_research_fund   This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here  - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:  - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 91 of #Syngap10 - January 31,  2023  #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Why we need to keep talking about SYNGAP1 #S10e91 Press is good! - Short link: https://syngap.fund/nw - Long link: https://www.newsweek.com/my-son-syngap1-rare-genetic-condition-1776362 Jo Ashline in Invitae: https://blog.invitae.com/finding-andrews-truth-a-family-s-unexpected-rare-disease-diagnosis-e21e97da6baf Episode 90 was good, remember to listen, #S10e90 https://www.youtube.com/watch?v=Mp4jHg-GXjE Ciitizen is over 200! Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 Conference Videos are up from Science Day! https://www.syngapresearchfund.org/post/2022-syngap1-conference-roundtable Grant applications due March 1, 2023 https://www.syngapresearchfund.org/professionals/grants/how-to-apply Priority Areas: - Biomarkers & Endpoints - VUS Resolution - Characterizing SYNGAP1 patients in the literature - SYNGAP1 Translational Science Help Research with this brief survey. Tell a friend and share these links - 200 & counting, $50 each. - Short link: https://syngap.fund/UCSF_survey - Long link: fd91u8h6784.typeform.com/to/cvMzzG9z?utm_source=advocacy_org&utm_medium=email&utm_campaign=predictive_tool_survey&utm_term=syngap_research_fund This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 91 of #Syngap10 - January 31, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

Deven McGraw, lead for Data Stewardship and Data Sharing at Invitae, joins Laura to discuss how government and industry can best secure your right to access your own health data while keeping it secure from unwanted exposures. Deven's broad range of experience makes her the person to answer those burning questions about how to keep our data safe - and accessible.

Oncology has emerged as the most successful disease area for precision medicine. Last year, as the genetic testing industry went through a royal shake-up brought on mostly by external market forces, it's been no surprise that precision oncology has been touted as a core strength. As the industry now works "to be more lean and profitable"--new language one hears these days, cancer testing will be a big part of that effort.

Patient advocate, Mike Graglia, and genetic counselor, Elli Brimble, join DNA Today for a conversation about SYNGAP1-related non-syndromic intellectual disability, a rare genetic disorder caused by a variant on the SYNGAP1 gene. Mike Graglia has always worked on complicated problems – he can't help himself. So when his son was diagnosed with SYNGAP1 in 2018, he founded the SynGAP Research Fund and continues to lead it as a volunteer. Mike has been trying to make the world a better place for a while – after the Peace Corps & grad school (MBA/MA) he joined the World Bank, then BCG Healthcare and eventually the Gates Foundation. His professional background is an ideal preparation for leading SRF to a cure for SYNGAP1.Elli Brimble has worked as a genetic counselor since 2016 and is currently the Research Director for Rare Disease at Ciitizen (now part of Invitae), a company that empowers people with access to their health data. She earned her B.Sc. in Genetics at Western University, a M.Sc. in Molecular Genetics at the University of Toronto, and pursued her genetic counseling degree at Boston University School of Medicine. On This Episode We Discuss:Mike's experience as a patient advocate and his son Tony's diagnostic odyssey Elli's role as a genetic counselor in diagnosing SYNGAPHow SYNGAP1 affects the body on a biochemical level (SYNGAP1 haploinsufficiency)Sleep issues associated with SYNGAP and other symptomsThe prevalence of SYNGAP and why it's advantageous to identify 1,000 or more people with the conditionLabs and organizations that have been helpful in supporting the SYNGAP communityConnecting with fellow parents/caregivers who have kids with SYNGAPThe status of SYNGAP1 research and potential treatmentsMike's podcast, SYNGAP10You can learn more about Mike's family and the SynGAP Research Fund in this youtube video, and by following them on Twitter (SynGAp Research Fund, Mike Graglia), Facebook, LinkedIn, and Instagram. Stay tuned for the next new episode of DNA Today kicking off the new year on January 6th, 2023! New episodes are released every Fridays. In the meantime, you can binge over 215 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today you have heard me interview countless guests about genetic testing. I'm sure you have thought to yourself, “I wonder what my results would be”. Now you can find out or gift it to someone else for the holidays! At Panacea, you can access affordable Whole Exome Sequencing, that's analyzing all of your coding genes, genetic counseling and physician oversight in a 10-minute workflow for under $1000. As a DNA Today listener you get 30% off (that's a $300 discount), just use the code “DNATODAY” at seekpanacea.com. Check out our interview with the Founder and CEO of Panacea, Dahlia Attia-King, in Episode #215 of DNA Today. (Sponsored)As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens! (Sponsored)Do you like listening to podcasts that help you get centered and reframe your mindset? Check out All Things Therapy. The show focuses on the concept that we can change consciousness one conversation at a time. Most episodes are the same length as ours, about a half hour, and feature an engaging guest. You can stream on all major podcast players by searching “All Things Therapy”.

Pharmacogenomic testing, or PGx, is considered low-hanging fruit, a no-brainer for the application of genetic testing in the clinic. And some may think it is small fruit. Not so, says today's guest, Kristine Ashcraft. "Currently we lose a life every two minutes in the United States to non-optimized medications,” says Kristine in today's show. She has spent over twenty years working to see pharmacogenomic testing adopted into standard-of-care medicine. Kristine serves today as the Medical Affairs Director for PGx at the genetic testing company Invitae.

Invitae Corporation, Q3 2022 Earnings Call, Nov 08, 2022

Pharmacogenetics testing: where are we today? Kristine Ashcraft, CEO, and founder of YouScript, a translational PGX start-up that Invitae recently acquired, joins us on the Beagle to discuss why it has been so hard to get the ball rolling on PGX testing. Kristine, who was called one of the 25 leading voices in precision medicine by BIS Medicine in 2019, lays out a roadmap to the integration of PGX testing into routine clinical care.

In der heutigen Folge „Alles auf Aktien“ sprechen die Finanzjournalisten Anja Ettel und Holger Zschäpitz über die britische Notenbank als Kavallerie der Märkte, die Gaspreisdeckel-Klatsche für Energiefresser und frischen Wind fürs Depot. Außerdem geht es um Porsche, Biogen, Eisai, Roche, Morphosys, Eli Lilly, ThyssenKrupp, Salzgitter, Commerzbank, Deutsche Bank, Apple, VW, Glencore, Ginkgo Bioworks, Invitae, Twist, 10x Genomics, Uipath, Invesco Wind Energy (WKN: A3DP7S), Global X Wind Energy (WKN: A3C9MA), Orsted, Siemens Gamesa, Vestas, Boralex, Axiona Energias Renovables, Ming Yang Smart Energy, SGL Carbon, SKF, Encavis, Energiekontor und Brookfield Renwable. Wir freuen uns an Feedback über aaa@welt.de. Disclaimer: Die im Podcast besprochenen Aktien und Fonds stellen keine spezifischen Kauf- oder Anlage-Empfehlungen dar. Die Moderatoren und der Verlag haften nicht für etwaige Verluste, die aufgrund der Umsetzung der Gedanken oder Ideen entstehen. Für alle, die noch mehr wissen wollen: Holger Zschäpitz können Sie jede Woche im Finanz- und Wirtschaftspodcast "Deffner&Zschäpitz" hören. Impressum: https://www.welt.de/services/article7893735/Impressum.html Datenschutz: https://www.welt.de/services/article157550705/Datenschutzerklaerung-WELT-DIGITAL.html

One thinks of Invitae as a leading genetic testing company that has worked to improve clinical quality while bringing prices down. And they are, and they have. But after listening to today's show, you will see that their vision is bigger than that. Farid Vij is the President and General Manager of Data at Invitae. A year ago Invitae bought a company he co-founded called Ciitizen which was focused on providing patients with access to their complete medical records.

GLOBAL GENES WAS GREAT Panel was impressive, will be sharing when recording is live, one point was small molecules… #GlobalGenes #CareAboutRare EVENTS ARE COMING 3 weeks! October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 8 weeks! November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 11 weeks! December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat RAREBASE Talked about this in #s10e27 https://youtu.be/r3bS9YepQ4s We are investing in small molecule repurposing as fast as we can.  Four lines… Cannonball 2.0 is on!  Checkout UFDtech on 21 October 2022! LINK#UFDtech #CannonballForTheCure #RareBase NOSPHARMA Talked about Bowie in #s10e69 https://www.youtube.com/watch?v=xl_r4hoDlf8 Nospharma leverages unique biological causes of brain disorders within the context of what is already known, to deliver effective treatments. By placing biology-first, we've created new drugs and repurposed on-the-market drugs to improve treatment success.  We aim to deliver the most effective therapeutics for some of the most severe brain disorders, as quickly as possible. …from https://www.linkedin.com/company/nospharma/ #NOSpharma  SIMONS/INVITAE PARTNERSHIP Two of the most important players in the Rare Epilepsy Ecosystem are partnering and it's great news for SYNGAP1 and SRF. https://www.prnewswire.com/news-releases/invitae-and-simons-searchlight-partner-to-accelerate-research-through-data-sharing-301621469.html Tweet: https://twitter.com/cureSYNGAP1/status/1569326298790789122 #SimonsFoundation #Autism #Invitae #ciitizen Satterstrom paper associates SYNGAP1 with Autism strongly https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250485/ See figure 2B https://pubmed.ncbi.nlm.nih.gov/31981491/#&gid=article-figures&pid=figure-2-uid-1 AUTISM BRAIN NETWORK Webinar: https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet Site: https://www.autismbrainnet.org/  etc. This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast  Apple podcasts: https://syngap.fund/10a   Episode 75 of Syngap10 - September 18, 2022    #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

GLOBAL GENES WAS GREAT Panel was impressive, will be sharing when recording is live, one point was small molecules… #GlobalGenes #CareAboutRare EVENTS ARE COMING 3 weeks! October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 8 weeks! November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 11 weeks! December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat RAREBASE Talked about this in #s10e27 https://youtu.be/r3bS9YepQ4s We are investing in small molecule repurposing as fast as we can. Four lines… Cannonball 2.0 is on! Checkout UFDtech on 21 October 2022! LINK#UFDtech #CannonballForTheCure #RareBase NOSPHARMA Talked about Bowie in #s10e69 https://www.youtube.com/watch?v=xl_r4hoDlf8 Nospharma leverages unique biological causes of brain disorders within the context of what is already known, to deliver effective treatments. By placing biology-first, we've created new drugs and repurposed on-the-market drugs to improve treatment success. We aim to deliver the most effective therapeutics for some of the most severe brain disorders, as quickly as possible. …from https://www.linkedin.com/company/nospharma/ #NOSpharma SIMONS/INVITAE PARTNERSHIP Two of the most important players in the Rare Epilepsy Ecosystem are partnering and it's great news for SYNGAP1 and SRF. https://www.prnewswire.com/news-releases/invitae-and-simons-searchlight-partner-to-accelerate-research-through-data-sharing-301621469.html Tweet: https://twitter.com/cureSYNGAP1/status/1569326298790789122 #SimonsFoundation #Autism #Invitae #ciitizen Satterstrom paper associates SYNGAP1 with Autism strongly https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250485/ See figure 2B https://pubmed.ncbi.nlm.nih.gov/31981491/#&gid=article-figures&pid=figure-2-uid-1 AUTISM BRAIN NETWORK Webinar: https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet Site: https://www.autismbrainnet.org/ etc. This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 75 of Syngap10 - September 18, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

REFRESH RECORDS COLLECTION Go to your providers and see what records were collected and when, if you have been back since then, ask them to recollect. SIGN UP FOR TRACKER SURVEY If you are signed up for ciitizen, you have an email from “Invitae Research Studies - research-studies@invitae.com” The subject is “Invitation to participate in Invitae's Ciitizen rare neurological disorders research study” DO IT EVERY DAY FOR 30 DAYS WATCH THE WEBINAR (Number: 64) FB: https://www.facebook.com/cureSYNGAP1/videos/5755953431123242/ YT: https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker/ IF YOU HAVEN'T ALREADY, SIGN UP FOR CIITIZEN www.ciitizen.com/syngap1 LEARN ABOUT PRAXIS: https://www.youtube.com/watch?v=Kh7O1bxXsSE KEY REMINDERS FUNDRAISERS BOWIE/ID in US syngap.fund/bowie BOWIE/ID in CANADA syngap.fund/overcome MICE: Help us Make 2! https://syngap.fund/2mice BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS 4 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ 8 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala 8 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 9 Weeks: October 12-15 in OH - Child Neurology Society https://www.childneurologysociety.org/colleagues/network/cns-annual-meeting/ 13 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 13 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient 16 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 70 of #Syngap10 - August 12, 2022 #PRAXIS #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

REFRESH RECORDS COLLECTION  Go to your providers and see what records were collected and when, if you have been back since then, ask them to recollect.   SIGN UP FOR TRACKER SURVEY If you are signed up for ciitizen, you have an email from “Invitae Research Studies - research-studies@invitae.com” The subject is “Invitation to participate in Invitae's Ciitizen rare neurological disorders research study”   DO IT EVERY DAY FOR 30 DAYS   WATCH THE WEBINAR (Number: 64) FB: https://www.facebook.com/cureSYNGAP1/videos/5755953431123242/ YT: https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker/    IF YOU HAVEN'T ALREADY, SIGN UP FOR CIITIZEN www.ciitizen.com/syngap1    LEARN ABOUT PRAXIS: https://www.youtube.com/watch?v=Kh7O1bxXsSE    KEY REMINDERS   FUNDRAISERS BOWIE/ID in US syngap.fund/bowie BOWIE/ID in CANADA syngap.fund/overcome MICE: Help us Make 2!  https://syngap.fund/2mice BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers    EVENTS 4 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/  8 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala 8 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap  9 Weeks: October 12-15 in OH - Child Neurology Society https://www.childneurologysociety.org/colleagues/network/cns-annual-meeting/  13 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 13 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient 16 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat   This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast  Apple podcasts: https://syngap.fund/10a   Episode 70 of #Syngap10 - August 12, 2022    #PRAXIS #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration 

In der heutigen Folge „Alles auf Aktien“ sprechen der Finanzjournalist Holger Zschäpitz und AAA-Friend Christoph Ellinger über aphrodisierende Inflationszahlen, neue Kursfantasie bei Biotech und eine Rallye bei Jumia. Außerdem geht es um Diseny, Netflix, iShares Global Clean (WKN: A0MM0S), Vestas, Nordex, Siemens Energy, Plug Power, Invitae, Invesco NASDAQ Biotech (WKN: A12CCJ), The Trade Desk, Riot Blockchain, Marathon, Geberit, Credit Suisse, Bâloise, Lonza, iShares MSCI Switzerland ETF (WKN: 901550), Lyxor DJ Switzerland Titans 30 (WKN: ETF030), Xtrackers Switzerland UCITS ETF (WKN: DBX1SM), iShares SMI® ETF (WKN: 935568). Wir freuen uns an Feedback über aaa@welt.de. Disclaimer: Die im Podcast besprochenen Aktien und Fonds stellen keine spezifischen Kauf- oder Anlage-Empfehlungen dar. Die Moderatoren und der Verlag haften nicht für etwaige Verluste, die aufgrund der Umsetzung der Gedanken oder Ideen entstehen. Für alle, die noch mehr wissen wollen: Holger Zschäpitz können Sie jede Woche im Finanz- und Wirtschaftspodcast "Deffner&Zschäpitz" hören. Impressum: https://www.welt.de/services/article7893735/Impressum.html Datenschutz: https://www.welt.de/services/article157550705/Datenschutzerklaerung-WELT-DIGITAL.html

Invitae Corporation, Q2 2022 Earnings Call, Aug 09, 2022

Invitae Corporation, Q2 2022 Earnings Call, Aug 09, 2022

This week was ripe with a promising future! #s10e68 Remember Episode 67? https://www.youtube.com/watch?v=dVpl1UEBVXA (Like these and subscribe to our YouTube channel). Monday - Invitae Announcement https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Announces-Strategic-Business-Realignment-to-Accelerate-Its-Path-to-Positive-Cash-Flow-and-Realize-Full-Potential-of-Industry-Leading-Genetics-Testing-Platform/default.aspx - Sign up for Ciitizen: https://syngap.fund/ciitizen - CMO email: “While the announcement focused primarily on our operations and product portfolio, I wanted to take this opportunity to reinforce that Invitae remains unwavering in its commitment to patients. Cultivating strong relationships with Patient Advocacy Groups remains central to our business and our patient-centric philosophy. We will continue to collaborate closely with our Patient Advocacy partners and communities to educate patients and their families on the value of genetic testing in diagnosing and potentially preventing disease. Together with you, we remain steadfast in empowering and supporting patients and highlighting the many opportunities where genetic testing may be beneficial. “ Pharmacogenetics in case you are curious: https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Launches-Expanded-Pharmacogenomics-Panel-and-Specialized-Mental-Health-Panel/default.aspx Tuesday - Prosser Pre-Print - Mapping PTBP splicing in human brain identifies targets for therapeutic splice switching including SYNGAP1 - “We find that PTBP2 binding to SYNGAP1 mRNA promotes alternative splicing and non-sense mediated decay. Antisense oligonucleotides that disrupt PTBP binding sites on SYNGAP1 redirect splicing and increase gene and protein expression.” - https://twitter.com/cureSYNGAP1/status/1549408144987652104?s=20&t=u5iAtpoucdyaiT06Vt77pg Wednesday - Sample collection at Stanford. - Planning for end of year, see below. Thursday - CHOP Update - https://www.helbiglab.io/ - https://www.youtube.com/watch?v=JVTnkQCtQNo Friday - Disease concept interview, Rarebase & Colombia - WCMC is looking to add to the pile of disease concept studies, which we VERY MUCH need. For the pile see Vlaskamp 2019, Jimenez-Gomez 2019, Smith-Hicks 2021, Wright 2022, Lyons-Warren 2022. - https://www.rarebase.org/ - Vicky is also building community in LatAm, there is a reunion this weekend! https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w FUNDRAISERS - MICE: Help us Make 2! https://syngap.fund/2mice - BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS - 7 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ - 10 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - 10 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - 11 Weeks: October 12-15 in OH - Child Neurology Society - 15 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - 16 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient - 18 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 68 of #Syngap10 - July 25, 2022 #Ciitizen #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

Remember Episode 67? https://www.youtube.com/watch?v=dVpl1UEBVXA (Like these and subscribe to our YouTube channel).   Monday  - Invitae Announcement https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Announces-Strategic-Business-Realignment-to-Accelerate-Its-Path-to-Positive-Cash-Flow-and-Realize-Full-Potential-of-Industry-Leading-Genetics-Testing-Platform/default.aspx  - Sign up for Ciitizen: https://syngap.fund/ciitizen  - CMO email: “While the announcement focused  primarily on our operations and product portfolio, I wanted to take this opportunity to reinforce that Invitae remains unwavering in its commitment to patients. Cultivating strong relationships with Patient Advocacy Groups remains central to our business and our patient-centric philosophy.   We will continue to collaborate closely with our Patient Advocacy partners and communities to educate patients and their families on the value of genetic testing in diagnosing and potentially preventing disease. Together with you, we remain steadfast in empowering and supporting patients and highlighting the many opportunities where genetic testing may be beneficial. “ Pharmacogenetics in case you are curious: https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Launches-Expanded-Pharmacogenomics-Panel-and-Specialized-Mental-Health-Panel/default.aspx     Tuesday  - Prosser Pre-Print - Mapping PTBP splicing in human brain identifies targets for therapeutic splice switching including SYNGAP1    - “We find that PTBP2 binding to SYNGAP1 mRNA promotes alternative splicing and non-sense mediated decay. Antisense oligonucleotides that disrupt PTBP binding sites on SYNGAP1 redirect splicing and increase gene and protein expression.”   - https://twitter.com/cureSYNGAP1/status/1549408144987652104?s=20&t=u5iAtpoucdyaiT06Vt77pg     Wednesday  - Sample collection at Stanford. - Planning for end of year, see below.   Thursday - CHOP Update  - https://www.helbiglab.io/   - https://www.youtube.com/watch?v=JVTnkQCtQNo    Friday - Disease concept interview, Rarebase & Colombia - WCMC is looking to add to the pile of disease concept studies, which we VERY MUCH need. For the pile see Vlaskamp 2019, Jimenez-Gomez 2019, Smith-Hicks 2021, Wright 2022, Lyons-Warren 2022. - https://www.rarebase.org/   - Vicky is also building community in LatAm, there is a reunion this weekend! https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w     FUNDRAISERS - MICE: Help us Make 2!  https://syngap.fund/2mice   - BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers     EVENTS - 7 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/   - 10 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala  - 10 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap   - 11 Weeks: October 12-15 in OH - Child Neurology Society  - 15 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree  - 16 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient - 18 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat    This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast      Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818     Episode 68 of #Syngap10 - July 25, 2022    #Ciitizen #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration 

You just hired a new engineer. How do you reduce their time to productivity? How do you give back hours of time to engineering leaders spent prepping and training the new hire? You examine your onboarding process and you use Pathlight to help. Today's show marks the 10th episode of Building With People For People!! I am very excited for our show today as we explore how a pre-med molecular biologist found her way into software and is building a startup addressing the software talent bottleneck. We also discuss proving your product through an MVT (minimum valuable test), the importance of diverse backgrounds, and how each of us can work together to create a more inclusive tech landscape. Our guest, Lizzie Matusov, had the startup life in her blood at a young age when as a kid, she and a friend started a dog walking business. She began her software career working on open source for Red Hat and has worked at Invitae as a Full Stack Engineer and Technical Product Manager. Currently, she is the co-founder of Pathlight, a product helping technical teams hit their goals and grow faster by re-imagining the onboarding experience. Additionally, she is an MS/MBA Candidate at Harvard Business School and Harvard School of Engineering and Applied Sciences, has spoken at conferences, describes herself as a community builder, is a plant lover, and is on a mission to change what it means to be a technologist for the better. Connect with Lizzie: Twitter Email Show notes and helpful resources: Lizzie's journey into software Pathlight - They are looking for design partners to run their first version completely free! Larsen created by Alex Benoit - a product to help prevent burnout and improve team culture EM twitter community Career Karma Learning about minimum viable tests Rippling - effortlessly manage payroll, benefits and more Learn Tensorflow Building something cool or solving interesting problems? Want to be on this show? Send me an email at jointhepodcast@unfilteredbuild.com Podcast produced by Unfiltered Build - dream.design.develop.

Invitae Corporation, Q1 2022 Earnings Call, May 03, 2022

Kamal Gogineni, President of Digital Health at Invitae, and Dr. Rakesh Patel, Chief Medical Officer for Digital Health at Invitae, join Justin to talk about the massive growth in genetic testing and what to do with all the data that it generates. Kamal, Rakesh and Justin discuss who is a good candidate for genetic testing, how genetic testing can help oncologists more easily identify and efficiently treat “decision-dense” cancers, and why moving risk assessment upstream in the care continuum could save lives and reduce costs. Justin, Kamal and Rakesh also discuss the future of personalized medicine and how to transform data into intelligence that improves care. To learn more about Definitive Healthcare, please visit us at definitivehc.com.

In recognition of National Adverse Drug Event Awareness Day, March 24, 2022, Dr. Becky Winslow, CEO of inGENEious RX Precision Medicine Consultants, and Dr. Behnaz Sarrami, PGx Medical Science Liaison of Missouri Pharmacogenomics Consulting, teamed up to cohost a special live episode of the PGx for Pharmacists Podcast. In this episode, Dr. Winslow and Dr. Sarrami interview Ms. Kristine Ashcraft, STRIPE Steering Committee member; former CEO and founder of YouScript; director of medical affairs at Invitae; a BIS Research recognized top 25 leading voice in precision medicine; and author of multiple publications on both the clinical and economic benefits of PGx testing, and Ms. Rachel Brummert, Special Government Employee (SGE) at the U.S. Food and Drug Administration; contributor at Drugwatch and Medshadow Foundation; and nationally recognized patient safety advocate who has turned the pain she suffered from an adverse drug event into her purpose. Topics discussed in this episode include: The financial and clinical costs resulting from adverse drug events' (ADEs) morbidity and mortality. Pharmacogenomic testing as a tool to mitigate ADEs. The Right Drug Dose Now Act which was recently introduced by Representatives Swalwell and Emmer and whose intent is to update the Department of Health and Human Services' National Action Plan for Adverse Drug Event Prevention to include funding for pharmacogenomics testing advocacy. Learn more about your ad choices. Visit megaphone.fm/adchoices

Will Peng is the CEO and Co-Founder of Northstar, a financial wellness and benefits platform.Prior to founding Northstar, Will worked in Venture Capital and his firm was an early investor in Coinbase, Guideline, Even, and Oscar.Financial wellness starts at work. Northstar is the comprehensive financial wellness and benefits platform. By combining the best of financial advising, fintech, and benefits, Northstar helps diverse teams make financial decisions and optimally utilize their benefits.Clients include Zoom, Snap, Invitae, ServiceTitan, Discord, and more!Inspired by the positive change fintech can have on people's lives, Will set out to solve the inequality of financial guidance.As a Taiwanese immigrant, Will is passionate about supporting underserved communities to help them achieve financial stability and reach their personal goals.William's Profilelinkedin.com/in/williampengWebsiteswilliampeng.com  (Personal Website)northstarmoney.com  (Company Website)Rebel HR is a podcast for HR professionals and leaders of people who are ready to make some disruption in the world of work.We'll be discussing topics that are disruptive to the world of work and talk about new and different ways to approach solving those problems.Follow Rebel HR Podcast at:www.rebelhumanresources.comhttps://twitter.com/rebelhrguyhttps://www.facebook.com/rebelhrpodcastwww.kyleroed.comhttps://www.linkedin.com/in/kyle-roed/Buzzsprout - Let's get your podcast launched! Start for FREEDisclaimer: This post contains affiliate links. If you make a purchase, I may receive a commission at no extra cost to you.Support the show (https://www.buymeacoffee.com/rebelhrpodcast)

In a day and age when it feels like there are drugs for everything—from restless legs to toenail fungus to stage fright—it's strange the drug industry has almost completely ignored one of our most important organs: our ears. Given that 15 percent of people in the U.S. report at least some level of hearing loss, you'd think drug makers would be doing more to figure out how they can help. Well, now there's at least one company that is. Cambridge, Massachusetts-based Decibel Therapeutics went public in 2021 to help raise money to fund its research on ways to treat a specific form of deafness caused by a rare genetic mutation. Decibel is testing a gene therapy that would be administered only to cells in the inner ear and would provide patients with a correct, working copy of the otoferlin gene, which is inactive in about 10 percent of kids born with auditory neuropathy. Harry's guest this week is Decibel's CEO Laurence Reid, who explains how the company's research is going, and how Decibel hopes to make up for all those decades when the pharmaceutical business had basically zero help to offer for people with hearing loss.Please rate and review The Harry Glorikian Show on Apple Podcasts! Here's how to do that from an iPhone, iPad, or iPod touch:1. Open the Podcasts app on your iPhone, iPad, or Mac. 2. Navigate to The Harry Glorikian Show podcast. You can find it by searching for it or selecting it from your library. Just note that you'll have to go to the series page which shows all the episodes, not just the page for a single episode.3. Scroll down to find the subhead titled "Ratings & Reviews."4. Under one of the highlighted reviews, select "Write a Review."5. Next, select a star rating at the top — you have the option of choosing between one and five stars. 6. Using the text box at the top, write a title for your review. Then, in the lower text box, write your review. Your review can be up to 300 words long.7. Once you've finished, select "Send" or "Save" in the top-right corner. 8. If you've never left a podcast review before, enter a nickname. Your nickname will be displayed next to any reviews you leave from here on out. 9. After selecting a nickname, tap OK. Your review may not be immediately visible.That's it! Thanks so much.TranscriptHarry Glorikian: Hello. I'm Harry Glorikian, and this is The Harry Glorikian Show, where we explore how technology is changing everything we know about healthcare.These days, it feels like there's a medicine for almost everything.There are drugs to calm your restless legs. There are drugs to treat fungal infections under your toenails or fingernails. There are even drugs to calm down performers who suffer from stage fright.So it feels odd that the drug industry has almost completely ignored one of our most important organs: our ears.15 percent of people in the U.S. report at least some level of hearing loss, so you'd think drug makers would be doing more to figure out how they can help.Well, now there's at least one company that is. It's a six-year-old company based in Cambridge, Massachusetts called Decibel Therapeutics.Decibel went public in 2021 to help raise money to fund its research on ways to treat a specific form of deafness caused by a rare genetic mutation. It turns out that in about 10 percent of children who are born with auditory neuropathy, the problem is a mutation in the gene for a protein called otoferlin.It's involved in the formation of tiny bubbles or vesicles that carry neurotransmitters across the synapses between the inner hair cells that pick up sound and auditory neurons in the brain.Decibel is testing a gene therapy that would be administered only to cells in the inner ear and would provide patients with a correct, working copy of the otoferlin gene.Otoferlin wasn't even discovered until 1999. So the fact that there's a drug company working to correct mutations in the gene for the protein is a great example of how genomics is enabling big advances in medicine.My guest today is Decibel's CEO Laurence Reid.And in our conversation he explained how the company's work is coming along, and how Decibel hopes to make up for all those decades when the pharmaceutical business had basically zero help to offer for people with hearing loss.Harry Glorikian: Laurence, welcome to the show. It's great to have you here.Laurence Reid: Yeah. Hey, good morning, Harry. Great to see you again. Thank you. Thanks very much for the opportunity to join you. I'm looking forward to it.Harry Glorikian: Yeah, I mean, we've known each other for, my God. I remember. Like, I want to go back in time to Warp or one of those companies way back when you were there.Laurence Reid: Like ten or 15 years ago, I think I think we're both compressing our compressing our memories. I think it was a while before that. But, you know, you've been a student of personalized medicine, of course, a leader. Those ideas and I know a lot of those ideas for me started at least personally when I was at Millennium. And I think we were pretty you know, there was a lot of fantastic thinking that some of what was ahead of where we really were technologically. But I think that's when you and I first met. So, no, it's great to reconnect.Harry Glorikian: Yeah. And now you're CEO of a company called Decibel, which is ironic because I remember when the company literally was coming out, they called me to help them think through diagnostics.Laurence Reid: Oh, interesting. I wasn't aware of that. Yeah, the company got incubated at Third Rock and got launched in 2016. So we're about six years old now. And, you know, we believe that the time is is now for sort of molecular innovation coming to hearing loss. And I'd love to talk more about that. But the diagnosis remains, there's an interesting, there's almost a dichotomy because at least in the in the Western world, we put our babies religiously through a hearing test within 24, 48, 96 hours of being born. And then and then beyond that, like we sort of like almost, we don't quite ignore it, that would be unfair, but the caliber of follow up care, never mind when you're our kind of ages, is really poor. So we're like we're really good out of the gate. And then after that and part of that is diagnosis. I mean, we think a lot about it, which, you know, you would love, is trying to think about improved molecular diagnostics, particularly with respect to the genetic components of hearing loss. So love to talk more about that.Harry Glorikian: Yeah. I mean, you know, you were talking to Kevin Davies on on another show. I mean, I think you mentioned you said something like "Hearing is a backwater of the pharmaceutical industry." And most of the focus is is what I would call a device, not necessarily a drug. So, you know, if we let's I mean, starting there, where do you see or how do you see that changing? And, you know, how have genomic tools and and these things made a difference in the direction that we're going. And I think that's what Decibel was sort of formed around, if I remember correctly.Laurence Reid: Yeah, no, you're exactly right. But those are, those are the central questions. So where we are today is there are, so, so, both. And we think about both hearing loss and balance disorders, because they're both mediated by evolutionarily related organs that sit inside inside the inner ear. And, you know, the hearing loss afflicts literally hundreds of millions of people around the globe at all ages. It can come on, you can whether it's congenital or it's sort of later in life or noise induced. So it's a massive unmet need. And, you know, and there are no approved therapies. So it's it's a field of medicine today that is that is completely served, to the degree it is served, by assistive devices, namely hearing aids and then cochlear implants. And there are no approved therapies. And I think the pharmaceutical industry has been really, is just not invested in the field at all. Astellas works with our friends at Frequency and has been committed and a couple of other big companies have sort of dabbled and then and then exited. Translation has been has been a challenge. We should talk about that preclinical work not really replicating once you get to you know, human beings. And so it's been a quite a difficult field for for many years. And and so the pharmaceutical industry has really not dived in and, you know, in Third Rock was really incubating decibel which is how they how they start companies. It was one of their ones that was was a slow burn.Laurence Reid: And they had they looked at assets out of one or two pharmaceutical companies and were really trying to get their heads around, is the time really now. And they they pulled the trigger in 2016 and went into it with a belief that that molecular innovation was coming and is coming and that that would that would give rise to therapies. So here we are six years later. And the playing field, as I like to say, is really, you know, dominated by small companies. We like to think about Decibel as a leader there, but there are other companies doing fine science, but they're small companies. And but that's going to change. It has to change. And it's going to be exciting from many aspects. When it changes, it affects how you build a company, when pharmaceutical companies are sort of watching, but they're not committed and they're not they're certainly not investing yet. But I think that's going to change. And I think we're going to see it change, I don't know, in the next couple of years. And I think 5 to 10 years from now, all the major pharmaceutical companies would have to be playing in this because, you know, there's the aging component, there's the cognitive health later in life. You could talk more about the specifics of why hearing is so important to our existence as human beings. And that's really not just a quality of life issue. And that's going to change. To have that happen.Harry Glorikian: That's why I was going to I was going to say I mean, I think if I remember correctly and it was fascinating to me when I went into Decibel, like, you know, when it was first getting started and how it was having conversations, it was like the number of people that are losing, you know, certain parts of their hearing earlier in life because of all the headphones and how loud they listen to things and so forth, was staggering. And then the economic impact of that was even more staggering. And so you would think that it's not just the pharma industry that would be interested, but anybody that—-like I've got my AirPods in now. So I mean, Apple should be interested.Laurence Reid: Those guys, those guys are working around the field. Bose, of course, a fine Massachusetts company with some of the best sound equipment. They've been investing in the hearing aid technology field for in recent years and have just launched a new generation of technology under that umbrella and come out with some pretty sophisticated marketing, trying to really get people to think about the quality of their hearing and why it's important. And so, as you say, so new people coming at it despite perhaps their contributions to it. And so, you know, so I think I think that's really very, very interesting. And but it is now devices, as you say. It's devices. So today, you know, a lot of it is treated nominally with hearing aids and then for very severe forms, particularly in in in young kids, but in adults as well. There's a technology which has been around for about 20 years now, known as a cochlear implant, where you have a surgical implantation of a very sophisticated device into your cochlea. And essentially it essentially hard wires, really a microphone directly to the onto the auditory nerve.Laurence Reid: And so there's a device inside your head and then there's a detection device that is visible outside. But both of these we view as assistive devices. And I mean, with some of the things that we're thinking about for molecular therapies, you know, we really think we can be disease modifying. And the devices are, they're an attempt to sort of palliate, effectively, the manifestations of hearing loss. They don't work 24/7 because they can't and kids in particular hate wearing them. But, you know, our parents hate wearing them as well, particularly the hearing aids. And so the compliance is very poor. But I think more importantly, they can only be so effective, and particularly if you're very severely deaf, the difference between that status and, you know, what the kid next to you in the classroom is hearing and picking up and how that's affecting their development is really massive and to me is one of the big drivers certainly why I got excited about the field personally.Harry Glorikian: Oh yeah. I mean, you know, if you're in a crowded restaurant and you can't hear the person across from you, there's all of a sudden it changes the entire dynamics of what's going on. I mean, that you know, that said, I think if my wife could implant a microphone that was directly wired into my brain, she would probably take advantage of that to make sure I hear everything.Laurence Reid: And hard wired up straight into her larynx. And then then everything would be would be beautifully aligned. Yeah, I know. It's really interesting. So my beloved mother is 84 and you have a one on one conversation with her and it's fine. You know, it's absolutely it's completely normal, like you and I chatting or talking to a 20 year old. But you put her in a crowded restaurant and it's very hard for her to participate at all. And so it's a really interesting. So on one level that's trivial, right? It's a night out in a restaurant. But it's indicative of the challenge. So I always think most easily comes to me with thinking about congenital deafness and then deafness or loss of hearing in in older people. But that restaurant is sort of an analog for in the case of the older people losing, you know, we talk a lot about connection, losing connection with their loved ones or their coworkers or their family. And, you know, hearing loss is the number one risk factor in cognitive decline later in life. And nobody is suggesting it's necessarily causative. But that loss of connectivity clearly in some way is contributing to, you know, to a cognitive decline. And I think that's really the way to think about it. For me, I think about hearing loss as why, why does it matter? And it's not because I think it's, if you haven't dealt with it, you probably think about it in terms of a social discourse. But actually why it really matters is the impact on, I use the phrase cognitive health, which is probably not a phrase of professional would use. It's really how is your overall ability to interact with people, to process information and and to share it? And if you're disconnected, it's clearly contributing to that lack of of of interaction and ability to, you know, to have discourse with our with our with our families. And so you see that. Pivoting to loss of interactions later in life. And then for a kid.Harry Glorikian: And how it affects the economy. I mean, if you're not going out to dinner or you're not or you don't hear everything at work or things like that, I think the impact is is dramatic. But you know how many I know you guys are working on different therapeutic approaches to solve this problem. So, you know. How many different forms of deafness right now, or maybe balance disorders, are monogenic or or caused by mutations of a single gene that, say, we can get in there and do something about it, because I think that's where you guys are starting.Laurence Reid: That's where we're starting. And that's exactly the right way to think about it. So let me let me step back and then I'll answer your specific question. So the strategy that we've taken and other people have different views of this is really that the most robust understanding in 2022 of the molecular etiology of any form of hearing loss is, is that it's driven by overtly by monogenic conditions. So two mutated genes inherited from mom and dad that good old recessive genetics and that therefore we're able to understand precisely what's causing it and we're able to understand the impact of that of a child born with bi-allelic mutations in the otoferlin gene for example. And and the promise of gene therapy is the ultimate to put back a a functioning copy of the gene very early in life and put a child back to a physiological state of of hearing that mimics the kid down the street. And that's and that's the ambition. And what we think will that will enable is both these modifying treatments, maybe even cures for for those sections of the population. But it'll teach us about how to do gene therapy safely in the ear. We think the ear is a wonderful organ in which to do gene therapy. We should probably talk about that in a moment.Harry Glorikian: Yeah, absolutely.Laurence Reid: But that over time, the Holy Grail. So as you get into the bigger populations, it's a classic, you know, genetics and environment, viruses, noise, lots of chemicals or lots of things  that damage areas over the course of life. And we just naturally lose the sensory hair cells in areas over the course of life. Everybody approximately linearly is losing that, that sensitive and that sensitivity. So eventually you hit a threshold and we all suffer from some form of hearing loss or balance, you know, lack of equilibrium as we get to be a little bit older and. For for many different causes. So the Holy Grail is can we really have regenerative medicines that regenerate the sensory the sensory hair cells, as they're called, in the inner ear, potentially as a treatment for hearing loss or balance disorders. And so the way we think about this is our strategy is really to to start with the monogenic forms of hearing loss have a chance for very clear diagnosis, driving, very precise clinical trials, driving potentially therapies that are directly addressing mechanism and with very high potential molecular upside. And to build from there into a pipeline of gene therapies that will start to go into broader populations, populations of much older people, and that will be gene therapies that are regenerative medicine. So that's our sort of long term vision of how this will how this will evolve. But it's starting with the monogenic conditions which which are which are rare diseases, orphan diseases by all definitions. And I think for the reasons that rare diseases have been such an intellectual driver of our industry in the past 20 to 30 years, is because you can link mechanism and etiology and a potential molecular cure in a very linear fashion. But it teaches you so much about how to manipulate an organ and how to develop therapies that eventually will treat broader populations.Harry Glorikian: Yeah. Laurence, you need to move faster, because I think I went to one too many rock concerts when I was younger. And, you know, I could tell you that.Laurence Reid: I had friends, when I was in high school who were who were into certain, you know, I hated heavy metal when I was a kid, but I had friends and they would come back and they'd been to a concert and they'd they'd stuck their head inside the speaker and they they couldn't hear for like a day or two. And I, I think back to those I worry about where those guys are now because they're hearing I'm sure they're otherwise.Harry Glorikian: Yeah. I mean, when you're when you're when your ear is ringing like a day afterwards, you probably recognized that was probably, it was a lot of fun at the time. But you pay for it later. But but stepping back, though, even if we were able to match every form of deafness to a specific genetic cause. Right. Very few infants or children get the kind of tests that would be needed. Like how widely available are these genetic tests for the hearing neuropathies today or.Laurence Reid: Oh, it's. I'm sorry. Go ahead.Harry Glorikian: No, no, no, go ahead. Because that would be my first question.Laurence Reid: It's the minority. And so by definition and I appreciate you've worked and thought a lot about this over the last years. You know, good diagnosis is is gating to everything that can follow. And so part of our broader I mean, at some level actually even step back from molecular diagnosis, which I know is where you'd want to go, that just overall how we manage hearing how is is almost rudimentary compared to how we think about about our eyes for example. And just I had my annual physical a couple of days ago and and a new physician and and the doctor was like, oh, you know, you go and get your eyes tested on, on an annual basis and which I do. And we talked about all the the good things that are cutting edge, you know, ophthalmologists does these days to look at your optic health. And then I was like, you know, the real question you should be asking me is, when did I get my hearing tested? And but when did you last get. We just we just it just doesn't it's just not part of adult health care in a routine way unless you get really I mean, my wife and I joke about it occasionally. I'm like, oh, well, let's go together and get our hearing tested.Laurence Reid: Not that, not that it's at all funny, it's not. It's a serious issue, but it's just not part of routine health care for helping adults think about about how how they manage their health. So. So we sort of we start with a, a broader set of educational issues. And then and then we dive down pretty quickly into how do we educate people about about the need and potential power of molecular diagnostics for children who, when we begin to figure out that they're hearing is developing, you know, in the early either days or early years of their life and as as in in the developed world, most children have a basic hearing test, you know, within hours of being born, literally, often while they're still in the hospital. And it's like, you know, in many, many places they catch them while mom is still, you know, literally in the hospital and and they do a basic hearing test so we can catch a lot of it like that. If it if you start if the hearing degenerates after that, it is still very challenging for that to get properly understood and picked up and diagnosed and managed even in, you know, developed cities and, you know, in the United States.Laurence Reid: And the the ability to to reflex to molecular testing is is very variable. If you talk to our our audiology team, it starts to be very dependent on which city do you live in and what's the ability? I mean, we're sort of privileged in Boston, Mass Eye and Ear is obviously one of the world's leading hospitals. But but how do you get from a an early "Yeah there's an issue here" to any form of molecular. What that path looks like of your pediatrician driving you to real audiological analysis, driving you to a molecular diagnosis. It's a pretty fraught path. You think about it in in in cities like Boston. Fair enough. And aren't we privileged to live here? We're lucky to live here from that perspective, but it's very heterogeneous. And so part of our work is really we have a collaboration with our friends at Invitae, part of which is trying to just it's almost educational. It's offering a free genetic testing service for important genes related to your hearing health. But part of the purpose is, is educational, really.Harry Glorikian: Yeah. Yeah, I was going to I was going to ask about that. I mean, in making it available, I mean, this is somewhat of a crusade, right, to educate people and get them on board, right. Because if you just don't know what's available, you may not think about it for your child. And if a parent knows they can help their child, I think most parents would go out of their way to do something positive. But just for everybody who's on the phone, you know, can you walk us through an example of, let's say, a single gene mutation can cause deafness? I mean, maybe you can concentrate on the example of, I think it's otoferlin, if I'm saying correctly, which you know, basically, if I've understood it correctly, it's the formation of the synaptic vesicles that carry neurotransmitters across the synapse, which is very, very tiny. And if the hair pulls away just enough, you start losing that ability to hear at that level because the chemical can't jump across to make that connection, which is, I think what's happening to me as I get older.Laurence Reid: Yeah. Very good. Yeah. And I'd love to talk about otoferlin. So otoferlin is our first program where we and other people are thinking about this as well. Our friends are also are working hard on this problem as well. But it's the vanguard program for Decibel and the field in terms of gene therapy for modern forms of hearing loss. And so obviously, we we know the gene that causes this particular subset of severe hearing loss. The children are born profoundly deaf. They really have almost no no signaling capability whatsoever. Despite that, when you study their ears and when you look at animal animal genetic models of the condition, the ear, functionally, structurally appears to be normally constituted. So what you see start with a belief that we may be able to instate normal hearing in these people by in these children, by, by by providing a a wild type, a normal copy of the gene. And there are other forms of of genetic hearing loss where by the time the kids are born, the children are born, their ear has not developed properly, structurally and functionally. And I think that's a much harder problem and may be impossible to to solve postnatally. So so as we think about areas where we think we can have an impact with the first generations, we're looking for clear genetics. We're looking for an ear that appears to develop normally and in which we therefore have the chance to instate normal hearing. Otoferlin is a calcium sensor and it functions at the interface between the hair cells in the cochlea, the inner hair cells, as they're called, which are the cells that transduce... Sound is effectively a mechanical signal. It comes to us as a sound wave, and it disturbs structures and eventually molecular structures inside your inner ear and creates a molecular signal that is transmitted by the hair cell through the synapse. As you say, to the auditory nodes, there's a direct interface between these cells that are that are detecting the sound wave into the into the auditory nerve. And if you lack otoferlin your calcium sensing functionality and that synapse is not present and and there's essentially no signal. So we measure this with something called an auditory brainstem response, which is a test you could run in a human or an animal. And there essentially it's a flat line, which from a from a restoration of a normal signal, it's a really excellent clinical endpoint because we're going to, we hope, instate, a signal, a quantitative signal with quantitative richness as well, that we're going to be able to measure relatively early after we administer our therapy. But the children have this is what we call an auditory neuropathy. They have no ability to signal from the cell into the brain. And as I say, the structures appeared to be intact. And what we know is that in an animal, if you create an animal model of this genetic animal model, that we can go into that now with DB-OTO, as we call it, which is which is a adeno associated virus vector to to basically deliver a normal form of the gene. And we can do that within weeks of this mouse being born. But interestingly, we could also go to those animals as long as a year after they're born, which which for a small furry animal is is about half of their life.Laurence Reid: So it's a big piece of their life. And and we can go in we can intervene at that at that one year point and still rescue the phenotype. So the is structurally intact. And when we provide the signaling molecule, we fairly quickly instate a normal signal. So that's that's exciting. Right. And A), it's a fantastic signal to measure in an animal. B) it gives us a lot of optimism that if we can get the gene to the right cells and get it turned on, then decent chance to to to solve to solve the signalling problem. So that's sort of our reason to believe. And actually maybe the last component, and then I'll breathe, is we think the ear is, is a fantastic place for gene therapy broadly because your inner ear is this tiny enclosed compartment. So we need a surgical route to get there, but we can then go directly to the site where one is trying to elicit a molecular effect and deposit a tiny amount of drug compared to what's required -- three or four orders of magnitude less drug than is required for systemic gene therapy -- directly at the site where we're looking to elicit the biological effect. And then almost none of it leaks out into the into the systemic circulation. So the ear, we think, is a fantastic order or organ for gene therapy, and we think we know some great genes to go after us, our first generation.Harry Glorikian: Yeah. I mean, you know, whenever if if people have followed any type of gene therapy, like the eye has been in optimal place to sort of start with. And so, you know, I think you guys are learning from what has been done in ophthalmology to sort of transition this to the ear, which, you know, I always say to people like we always start on the outside because it's a lot easier and then we then we figure out how to go deeper in because it's a lot harder. But, you know, what kind of results are you seeing so far when you transfer genes into, maybe nonhuman primates.Laurence Reid: Yeah. Yeah. No. So we've just in the last year or two, transitioned from rodent studies to non-human primates. You are correct that the characteristics of the ear that make us so excited about the possibility here, a lot of them are very much learning from why the eye has been really such a primary site of our efforts in gene therapy in the last ten years or so. And so as we move from small animals to larger animals to human beings, we start with, as I mentioned, genetic rodent models that we can knock genes out in the mouse that replicate the human genetics. The ear, it turns out, is it is evolutionarily highly conserved. So the the ear of a rodent is a lot smaller than than your ear in my ear. But structurally and molecularly and cellularly it's very analogous. And we can come back to your point about genomics and how it's opened up our understanding of these cells. But nonetheless, the basic structure and physiology is highly conserved from from lower mammals to to higher mammals. So so we start with genetic models that we can manipulate the genome and create what we believe is a pretty interesting analog rodent analog of the human condition. We don't have genetic models in non-human primates, so we end up doing studies in non-human primates where we we we mimic exactly the surgical procedure by which we will access the inner ear, and then we end up either using a surrogate marker, GFP, or we end up detecting the human otoferln, in the non-human primate, which is quite hard.Laurence Reid: But we've sort of figured out how to do that now. And really what you're looking at is, is, is really is efficiency of the delivery and expression process. And then when you can't measure a fixing of the genetic burden and so at Decibel, we spend a lot of time using our genomics platform to really be able to define molecular control of our gene therapy. So we're really trying to express the transgene selectively in the cell types where nature intended it to function. So, you know, calcium sensor in the wrong in the wrong cell type one might fear, and we have data that suggests, that that may be a problem. So Decibel is really invested very significantly in sophisticated molecular control of our gene therapies. And so when we do the experimentation in the non-human primate we're looking at, are we getting good delivery throughout the cochlea? Are we getting good infectivity throughout the cochlea and then expression of basically a surrogate marker? Because we we can't change the physiology of a of a normal non-human primate. So it's really all about about surgery, delivery expression. And then obviously you then got a stable transgene expression, it turns out, rises over the over the weeks and months after after after the transduction. And so we're measuring that. And that's going to play ultimately into clinical trial design, both in terms of safety and an end points that will measure in human being. [musical interlude]Harry Glorikian: Let's pause the conversation for a minute to talk about one small but important thing you can do, to help keep the podcast going. And that's leave a rating and a review for the show on Apple Podcasts.All you have to do is open the Apple Podcasts app on your smartphone, search for The Harry Glorikian Show, and scroll down to the Ratings & Reviews section. Tap the stars to rate the show, and then tap the link that says Write a Review to leave your comments. It'll only take a minute, but you'll be doing a lot to help other listeners discover the show.And one more thing. If you like the interviews we do here on the show I know you'll like my new book, The Future You: How Artificial Intelligence Can Help You Get Healthier, Stress Less, and Live Longer.It's a friendly and accessible tour of all the ways today's information technologies are helping us diagnose diseases faster, treat them more precisely, and create personalized diet and exercise programs to prevent them in the first place.The book is now available in print and ebook formats. Just go to Amazon or Barnes & Noble and search for The Future You by Harry Glorikian.And now, back to the show.[musical interlude] Harry Glorikian: I would assume that some level of spatial genomics, the new technologies that are out there, must be hugely helpful to see the different cell types, where they are and what type they are. And you know is actually lighting up and changing versus what you don't want to light up and change. So yeah. So I had a great interview with Resolve on their system, which I think is going to be the next frontier, because what you're saying is, what cell type, where it is, and did I make the change in the exact one that I wanted?Laurence Reid: That's exactly right. So my my colleagues, long before I was here, invested in building a platform that we think is still, we have a database of over 3 million molecular profiles of the cells of the inner ear, which we think is a unique asset. And basically applying the tools of single cell genomics, which is the ability at the level of individual cells in the organ of an individual animal to analyze comprehensive gene expression. And so what we've been able to do, and I think this is part of just changing our attitude to how do we understand the cells of the inner ear and therefore how can we think about manipulating them pharmacologically to open up the field? And so we have a complete molecular characterization of, there are about 30 or so important cells in the inner ear and there's two or three subsets of those cells, starting with the cells that I talked about that are probably the critical therapeutic targets. And so we have a detailed molecular understanding of the composition of the level of gene expression of each of these different cell types. And we look at them a lot as they as they as they differentiate and form in a natural process, because we think that holds the answer ultimately to regenerating them as part of this next part of our strategy. But it's also taught us about how individual cells control gene expression. And I mean, otoferlin is expressed essentially in an adult animal only in the so-called inner hair cells. And that's what we then aim to replicate with our gene therapy. And so we've been able to take our genomics platform to define genetic regulatory elements that drive our trans genes in our gene therapies to express selectively in the most important cell type where you need it and not elsewhere. We know from our animal studies that that has a beneficial impact on on on the therapy and that the durability of the therapy. So that's our overall molecular goal, but it leverages this platform of single cell genomics.Harry Glorikian: So I've seen company presentations. Like you guys are, you know, you intend to initiate a phase one, clinical trial of of DB-OTO. I mean, how is that going? I mean, what are the big technical or medical barriers, where you're thinking about testing gene therapy? Like, I mean, you know, where are you guys in all that?Laurence Reid: Yeah. So so we what we've and I'm going to be precise as a public company, I need to be careful with my disclosures. So apologies in advance. But what we said is that we'll initiate will file an IND or a CTA in Europe this year and and move into our first in human study this year. And so we're in the you know, we're deep in all the almost classical, you know, pre-IND work of making material and, you know, and testing it in, in the final, you know, GMP tox studies and making material of a caliber that'll that'll go into human beings, which is very exciting. And that's, you know, that's that's what we're working on. Those are the two sort of basic barriers. I mean, we have published and talk publicly about a lot of our animal data, what I sort of recited a few minutes ago, small animals to large animals. I think we understand the basic pharmacology and now it's okay, scale up, make the material for human being, you know, GMP material for human beings, test the material, you know, in more prolonged formal toxicology studies, you know, and move it into human beings so that that work is ongoing. The other part that's really fascinating that you would appreciate is, you know, in a rare disease like this, a lot of very interesting discussions about about what's the exact patient cadre in which one starts a clinical trial.Laurence Reid: And we spend a lot of time building relationships with with clinicians, particularly in Europe, but also in the US, who really invested in understanding the genetic basis of of children in their region with genetic forms of auditory neuropathy. And we have a fantastic collaboration with our colleagues in Madrid at the Roman y Cajal, who have a database that is essentially all of the all of the known diagnoses of otoferlin deficiency in Spain. And so they've done so we have been able to help them do a lot of natural history work. What is what is the progression of the condition and how do we find these kids? And so we ultimately not necessarily immediately, but the ultimate goal is to treat children very early in life. These kids are now once they're diagnosed, they would get a cochlear implant really probably around the end of their first year of life. It used to be more like two, but that age has come down from a medical perspective. Being born profoundly deaf is the phrase is is a neurodevelopmental emergency. And I talked a lot about about old people. But for a kid, the the or a baby, the issue is that hearing lack of hearing impacts that their initial social interactions that their generation of language skills and their ability there and that and that feeds into their cognitive development.Laurence Reid: So there's a there's a whole set of emotional interactions that are happening very early in life. And of course, with so much cognitive development going on and the hearing is, is the absolute gate to a lot of that happening. And so it's widely, widely agreed that this phrase, a neurodevelopmental emergency, is what physicians use. So so ultimately, we need to be treating these kids in the first year or two of their life. And you know, how soon we'll get there remains to be seen. And it is an ongoing discussion. But that's that's where that's where ideally we would end up. While at the same time, as I said, we know we can intervene in animals later in their lives. So we're optimistic that we're going to be able to take adolescents and and children beyond the first year or two of life and still be able to have a positive impact on them. Well, that's the vision for sort of the broader applicability, not just in a newborn baby.Harry Glorikian: Yeah. I mean, you know, I mean, a child's, you know, the neuroplasticity or how easily that their brain or their system adapts and changes. I could see, you know, the drug having a much more profound effect in that population. I mean, in older people, I like to believe that we still have neuroplasticity, because I'm constantly evolving and changing. But, you know, I also sometimes think we're sort of stuck and maybe maybe don't have. But, you know, the human body is an amazing machine. But, you know, it brings me like one of the biggest themes on this show is like data, data, data and how that intersects biology. And, you know, what you're talking about is identifying the right sets of data, the right patients to have this work done on so that you can achieve a level of success. We all know that if you pick the wrong patients. Like you're utterly almost doomed for failure, or you're going to have an effect that you really didn't want to have. So how much of of Decibel's work or approach is is rooted in "Here's the data, here's the patient." How much are you guys using that to drive every decision that you're making?Laurence Reid: It's a it's a really great question, actually. And the answer is a lot. In fact, as I think about Decibel and where I think the team that my predecessor built, Steve Holtzman, who of course, you know, is really, really exceptional, is is effectively translation in its broadest sense. Right. I think what differentiates Decibel is an outstanding understanding of the biology of the inner ear and that we've invested in in turning that into a genomic molecular understanding of every cell type. But it's then, okay, who's my patient? What, their molecular profile. And how do I link that back, feed that back into my discovery process? What are my animal models look like and how am I looking forward, you know, into ultimately into a clinical trial? And with people suffering from from congenital hearing loss age, which we try and intervene, becomes a big variable, as you're suggesting. And so, you know, if you're in the pharmaceutical R&D, it's like, okay, that's translational medicine he's talking about. And and it is I just think we do it really well. And it's really the essence of the scientific core of Decibel is linking our molecular work in the cells of the inner ear to a fantastic understanding of the patients, their individual phenotypes and how we look to bridge that gap between preclinical research and the clinic. And the the the truth is, I mean, there are no approved therapies and there hasn't been a lot of work, as I said, up front.Laurence Reid: But but it's not like we're we're complete, we're not we're not going to be the first people either to do a gene therapy in the ear, nor to try and develop a therapy. But the translation has been really poor. And I think that our ability to understand the mechanistic pharmacology, preclinical and clinically and then be confident that that was going to work in a human being has been really poor. And obviously genetics from a simplistic perspective is a fantastic way to bridge that gap. Right. We know which gene we're trying to fix. And therefore, is the ear able to be fixed in a child of one two years old? And can we get the gene there safely and effectively and turn it on in the right place? Right. But those are problems that you can break down and solve and you can analyze them in smaller animals and larger animals. Whereas I think historically, the preclinical data, how do you validate it in a human being or do we really know those mechanisms are going to work in a human being? Well, the outcomes have shown us that we didn't have all the understandings of that. And I think you look back on it and the ability to translate has been has been weak. And that's why the genetics is is so appealing as a formative place to to start and try and build a pipeline of therapeutics, at least in our opinion.Harry Glorikian: Yeah. It's funny because we're always coming back to this genetic part of it. And I remember like somebody saying to me way back, No, it wasn't that long ago, relatively speaking, but why would you want to sequence anything? Right? And now it's like it's the cornerstone of everything we're doing. Yeah, but. But you guys have another drug, right?Laurence Reid: We do.Harry Glorikian: That prevents ototoxicity, right. Damage to the inner ear.Laurence Reid: Yep.Harry Glorikian: And it's that's one of the most common side effects of chemotherapeutic drugs like cisplatin. I mean, for those people that are listening, right, these little hairs, it's the same thing as like maybe the hair on your head.Laurence Reid: Please don't go there. It confuses people.Harry Glorikian: But essentially, you've got a drug that you're working on this in this space.Laurence Reid: Yes, we do. So firstly, how are you just upset because of our relative quantity of hair here. The hair cells in your hair are very different than the hair cells on top of your head or other parts of your body. Their role is to transducer signals on the inside of your cochlea into the brain. So but the cisplatin based chemotherapy is still very, very commonly used around around the world and is quite efficacious in certain types of tumors. It's widely used, for example, in testicular cancer, just one example. And it comes but it comes with a couple of of fairly severe toxicities, one of which is it kills the hair cells in your ear. And it also damages their interactions with the nervous system. And earlier in Decibel's life when we were sort of using our biological thinking before we. That's what I would say when we started as a biology company and we explored different molecular molecular modalities as the right way to treat it. And now we are significantly focused on gene therapy. As we've been talking about, this program was home grown and we're pretty excited about it despite our core investment in gene therapy now. And what we have is a proprietary formulation of a molecule of sodium sulfate, which is a natural metabolite, and it chemically inactivates cisplatin. And so we actually administer this by an injection into the middle ear and then the active ingredient leaches into the inner ear. And we administer that about 3 hours or so in advance of the Cisplatin IV, so that by the time the cisplatin gets to the ear, the inner ear is already bathed in sodium sulfate. And so and then you have a chemical reaction in situ inactivates the cisplatin.Laurence Reid: And you know, it's interesting because some people don't find that very sort of biotech sexy, but it's actually an incredibly elegant way to to to stop the side effects of a molecule that has multiple, multiple molecular forms of damage that are probably being imposed on different cell types. So solving that biologically or biochemically is a very hard, diverse problem, whereas solving it chemically in situ we think is is very powerful. The principle to give some credit was validated by a company called Fennec, but they have an IV administration and they are constantly fighting between achieving good things in. As you might imagine, preventing against that toxicity without inhibiting the efficacy of the drug. And it's correct. And that's that is a very and they hopefully eventually will get approval for a fairly narrow pediatric population because it's been very hard to sort of thread the needle of can I protect without inhibiting the efficacy? Now if you go directly to the organ where the damage is being done, local administration of a proprietary formulation, so it sits in the ear, it's there in advance. Essentially, none of it leaches out into the circulation. So we have, we believe, negligible risk of inhibiting in any way the cancer benefit of the circulating cisplatin. So we're achieving a local protection and we're looking where we will be reporting some human proof of concept data. We've said in the first half of this year. So pretty excited about that, actually.Harry Glorikian: Yeah. I mean, you know, I don't need sexy. I just need something to, like, work, right? I mean, sexy is nice, but, you know, if it's working, it's working sometimes, you know.Laurence Reid: Right. So, so not not to compare protection of hearing against protection from people who are going to die of cancer. But it's an interesting example of where hearing health or ear health gets neglected. So in the context, you know, cisplatin is used in many cases with what people refer to as an intent to cure and so people can get cured. Young men, I think the cure rate is something like 95%. So you're talking about a young man, maybe 20 years old. He's going to live for 100 years, right? Maybe more. Maybe more. And nowadays and so the the importance of protecting his hearing at that age. And there are female cancers as well. But his hearing at that age for his long term health is incredibly important. But it gets it gets, unsurprisingly, neglected because the focus is on is on the cancer, which is which is understandable. But but we think that there's a really important opportunity to, you know, to provide a better overall solution for for those people that's going to have an incredible impact later in their life as their hearing would be naturally degenerating anyway. And and I think because of the the understandable stress when you're going through chemotherapy, you know, worrying about the hearing decrement, is it's just not top of mind. And so we've got some awareness. We've got some work to do to increase awareness there and hoping that some of our animal data might replicate in human beings because we think this could be fairly effective and really hopefully get it into the minds of oncology physicians. Is the goal that you should be thinking about this. You're trying to cure this patient. You're trying to whether it's a woman with ovarian cancer in her fifties or a young man with testicular cancer, they're going to live for decades to come. And we think it's important that they're hearing health is protected and we can help you do that potentially in a very powerful, rather simple way, actually.Harry Glorikian: So. I'm going to assume and you can correct me if I'm wrong, that if this gets through sooner than the gene therapy and can generate some revenue in the short term, you can then utilize that revenue to continue to fund the gene therapy programs.Laurence Reid: We're all always looking for money to do this, right, Harry?Harry Glorikian: So, unfortunately, that's the business we're in.Laurence Reid: That's the nature of the beast. Certainly, after we have our data in hand on the proof of concept, we'll be looking for an FDA interaction to define the path to registration, which we think could be relatively efficient. We have, you know, the medicine that effectively becomes an oncology supportive care medicine. It needs to be administered probably in the chemotherapy suite right in advance of a patient receiving their chemotherapy. So it needs to be marketed to an oncologist with a lot of education in the audiology community so that they're leaning on their oncology colleagues to you need to do this and you need to think about this as you're putting your patient through through chemotherapy. Ultimately, I think that that marketing to the oncologists, I don't think that's what's going to do that in itself. We're going to eventually bring a partner partner in to do that who is a specialist in marketing to the oncology community. And we want to be involved in rethinking about making sure that the ideological education and understanding is transferred into the cancer into the cancer world. And so that's that's a commercial strategy and structure that will will put together, you know, potentially starting when the data is in hand, but certainly some time between now and approval of the drug.Harry Glorikian: Well, Laurence, you know, I can only wish you the greatest success because and working in older people would be great, because I'm sure that I'm going to need this at some point, and some of my friends may also need it. But it was great to catch up with you. Great to talk. You know, I hope, you know, it's not as many years past again before we we get a chance to connect. So great to have you on the show.Laurence Reid: Thanks, Harry. I really appreciate it. And hopefully I've been able to provide some of the color and why we're so excited and think we're opening up a new area of therapy here for people with hearing loss and balance disorders beyond that. So really appreciate the opportunity. Thanks very much and great to see you.Harry Glorikian: Thank you.Harry Glorikian: That's it for this week's episode. You can find a full transcript of this episode as well as the full archive of episodes of The Harry Glorikian Show and MoneyBall Medicine at our website. Just go to glorikian.com and click on the tab Podcasts.I'd like to thank our listeners for boosting The Harry Glorikian Show into the top three percent of global podcasts.If you want to be sure to get every new episode of the show automatically, be sure to open Apple Podcasts or your favorite podcast player and hit follow or subscribe. Don't forget to leave us a rating and review on Apple Podcasts. And we always love to hear from listeners on Twitter, where you can find me at hglorikian.Thanks for listening, stay healthy, and be sure to tune in two weeks from now for our next interview.

"There's an entire field of fragmentomics with a whole lot of people working on it. The DNA which is shed into the bloodstream has a certain length. The length of ctDNA is shorter than cfDNA, and depending on where the cancer cell is located, the fragment size and pattern is different. So you can actually deduce information about the tissue of origin from the fragment length and pattern. And that's just the beginning."