Podcasts about genomenon

Genomenon provides genome interpretation software.

This week on Data in Biotech, Ross is joined by Jonathan Eads, VP of Engineering at genomics intelligence company Genomenon, to discuss how his work supports the company's mission to make genomic evidence actionable. Jonathan explains his current role leading the teams focused on clinical engineering, curation engineering, platform development and overseeing Genomenon's data science and AI efforts. He gives insight into how Genomenon's software works to scan genomics literature and index genetic variants, providing critical evidence-based guidance for those working across biotech, pharmaceutical, and medical disciplines. Jonathan outlines the issues with inconsistent genetic data, variant nomenclature and extracting genetic variants from unstructured text, before explaining how human curators are essential to ensure accuracy of output. Jonathan and Ross discuss the opportunities and limitations that come with using AI and natural language processing (NLP) techniques for genetic variant analysis. Jonathan lays out the process of developing robust validation datasets and fine-tuning AI models to handle issues like syntax anomalies and outlines the need to balance the short-term need for data quality with the long-term goal of advancing the platform's AI and automation capabilities. We hear notable success stories of how Genomenon's platform is being used to accelerate variant interpretation, disease diagnosis, and precision medicine development. Finally, Ross gets Jonathan's take on the future of genomics intelligence, including the potential of end-to-end linkage of information from variants all the way out to patient populations. Data in Biotech is a fortnightly podcast exploring how companies leverage data innovation in the life sciences. Chapter Markers [1:50] Introduction to Jonathan and his academic and career background. [5:14] What Genomenon's mission to ‘make genomic evidence actionable' looks like in practice. [14:48] The limitations of how scientists and doctors have historically been able to use literature to understand genetic variants. [16:08] Challenges with nomenclature and indexing and how this impacts on access to information.  [18:11] Extracting genetic variants from scientific publications into a structured, searchable index. [22:04] Using a combination of software processes and human curation for accurate research outputs. [24:57] Building high functionality, complex, and accurate software processes to analyze genomic literature. [29:45] Dealing with the challenges of AI and the role of human curators for the accuracy of genetic variant classification.   [34:37] Managing the trade-off between short-term needs for improved data and long-term goals for automation and AI development. [38:39] Success stories using the Genomenon platform including making an FDA case and diagnosing rare disease.  [41:55] Predictions for future advancements in literature search for genetic variant analysis. [43:21] The potential impact of Genomenon's acquisition of Jack's Clinical Knowledge Base.

PhenoTips' Chief Technology Officer Dr. Orion Buske and Genomenon's Chief Scientific Officer Dr. Mark Kiel discuss current and future applications of AI in genomics, limitations to the application of AI in genomics, the role of AI in advancing precision medicine, and ethical, legal, and social implications of the application of AI in genomics.

#ImpatientOptimism is the appropriate feeling for this moment… #S10e84 Targeting Epilepsy Meeting at St. Jude: https://www.stjude.org/research/initiatives/pediatric-translational-neuroscience-initiative/targeting-epilepsy-translating-advances-in-research-to-genetic-epilepsy-therapy.html Praxis and PRAX-562 for #SCN2A and #SCN8A https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-advance-prax-562-phase-2-study    Go Team Canada and Overcome for Bowie Small Molecule Grant! https://www.eurekalert.org/news-releases/960181 https://twitter.com/cureSYNGAP1/status/1597268138793762817?s=20&t=g1cxR6D2qqzIp-6-q6sY3g John Oldenhof, an #STXBP1 dad talks about two key points. https://www.biopharmaservices.com/blog/research-roundtable-for-epilepsy-a-reflection-by-dr-john-oldenhof/    #S10e83 on Stoke and TimeOnDrug https://www.youtube.com/watch?v=7uK2dCs53Ew    #GivingTuesday - Support SRF! https://secure.givelively.org/donate/syngap-research-fund-incorporated/givingtuesday-2022  Genomenon: https://www.streetinsider.com/Press+Releases/Genomenon+Partners+with+Three+Rare+Disease+Foundations+to+Advance+Precision+Drug+Development/20904631.html  Combined Brain: https://combinedbrain.org/  Thank you Heather and Spark! https://sparkforautism.org/discover_article/autism-answers-research/ https://twitter.com/cureSYNGAP1/status/1597348804021583872?s=20&t=g1cxR6D2qqzIp-6-q6sY3g  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 84 of #Syngap10 - November 29,  2022  #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

This week on the Life Science Success podcast I am interviewed Mike Klein the CEO of Genomenon.  Mike is an accomplished CEO with over 25 years of experience developing, building and growing high tech, software and IT companies.    As a seasoned CEO, he draws upon a unique blend of vision, strategic thinking, communication and execution skills to help turn around and put companies on the high growth track. He has the technical and financial background to guide businesses to meet their objectives and extensive experience in raising capital, acquisitions and delivering successful investor exits.   Notes: 3:00 What does Genomenon Do? 4:00  What made Mike want to be in Life Sciences? 7:30 What are some of the lessons learned in his previous startups that he brought to Genomenon? 11:00 The importance of culture & core values 12:55 The impact Genomenon will have on the world 18:30 Advice Mike would give a new entrepreneur 20:00 Advice to someone outside of life sciences 22:50 Proudest Moment 26:32 Biggest Challenges 28:00 Three Questions  What inspires you? What concerns you? What excites you?

Steve Schwartz and Genomenon, the company he co-founded, are saving lives with technology that allows diagnosticians to quickly review millions of scientific articles to make accurate diagnoses and find appropriate treatments for rare genetic diseases.

In this episode we are exploring the genetics of ALS with Mark Kiel, the Chief Science Officer and Co-Founder of Genomenon. Genomenon is an AI-driven genomics company that keeps pace with the constant advancements made in genomics and connects that research to patient DNA to help diagnose and treat patients with rare genetic diseases and cancer. Mark Kiel completed his M.D., Ph.D., and Molecular Genetic Pathology Fellowship at the University of Michigan, where his research focused on stem cell biology, genomic profiling of hematopoietic malignancies, and clinical bioinformatics. He is the founder and CSO of Genomenon, where he oversees the company's scientific direction and product development. Mark has extensive experience in genome-sequencing and clinical data analysis. On This Episode We Discuss:Overview of ALSHow ALS is diagnosedCauses of ALSGenetic testing for pathogenic variants Expansion of the list of causative genes and variants for ALSUncovered trends in age at onset and rate of progressionNew data on the prevalence of gene mutations in ALSValidation of the novel utility of the genomic landscape for ALSTo learn more about Genomenon and the findings from their comprehensive Genomic Landscape for ALS, visit their website, or check them out on Twitter and LinkedIn. Stay tuned for the next new episode of DNA Today on October 15th where we welcome Erika Stallings and Dena Goldberg to discuss the organization, Black Cancer Genes, in honor of breast cancer awareness month! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Learn more about the clinical study and refer a patient to a study center here. (SPONSORED)Do you work in a lab? Want to receive rewards when you order supplies? Check out Thermo Fisher Scientific's Aspire program, it's a rewards program created with scientists, like you, in mind. All members receive a free full size trial product every year. Points are earned every time you use or purchase products. Rewards include science themed apparel like a zip up DNA hoodie! Check it out at ThermoFisher.com/aspire-DNAtoday and for a limited time receive 500 bonus points. See the show notes for terms and conditions and that link. Terms and Conditions: Open only to eligible participants in the US (excluding Puerto Rico) and Canada (excluding Quebec). Eligible participants must complete the enrollment process for the Aspire member program in order to be enrolled in the program and receive rewards and benefits. Enrollees must confirm their health care professional or government employment status during time of enrollment. For full terms and conditions of the program, go to thermofisher.com/aspire/tc. Offer is void where prohibited, licensed, or restricted by federal, state, provincial, or local laws or regulation or agency/institutional policy. Other restrictions may apply. (SPONSORED)

The National Society of Genetic Counselors' (NSGC) 40th annual conference occurred virtually this past week. In this special extended installment of DNA Today we are recapping and reflecting on a few sessions from the conference. You can also check out our recap episodes of 2020 and 2019. Guests Laura Hercher has been a genetic counselor for nearly two decades. She is also the host of fellow genetics podcast, The Beagle Has Landed. She is a faculty member and director of student research at the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College, the country's first and largest training program for genetic counselors. Hercher is a writer and commentator with publications including articles in Wired, Aeon and Scientific American as well as peer reviewed journals. She is a co-founder of the DNA Exchange, a blog for the genetic counseling community founded in 2009, which has grown to over 100,000 views in 2017.Sally Rodríguez is a licensed and board-certified genetic counselor who specializes in the area of reproductive genetics, with expertise in expanded carrier screening (ECS), noninvasive prenatal screening (NIPS), and preimplantation genetic testing (PGT). Sally was an early-stage employee at Recombine, a genetic testing laboratory focused on reproductive genetics, and developed and managed the lab's ECS and NIPS offerings through the company's acquisition by CooperSurgical. Currently, she serves as a genetic counselor at Sequence46, a PGT laboratory. She received her Bachelor's degree in Molecular Biology from Princeton University in 2009 and her Master's degree in Genetic Counseling from The Johns Hopkins University Bloomberg School of Public Health in 2013. Sally is an active member of NSGC, the American Society for Reproductive Medicine (ASRM), and the Minority Genetics Professionals Network (MGPN).NSGC 2021 Conference Session OD01: Advocating for Autonomy: Genetic Counselors as Champions for Comprehensive Reproductive Health with Laura Hercher Overview of Texas SB 8 (Abortion Ban) Texas SB 8 disproportionately affecting pregnant peopleRepercussions on genetic counseling from Texas SB 8National impact on Texas SB 8Jackson Women's Health Organization vs DobbsIncrease in abortion laws vs public opinion Defining abortion reason bansTo learn more about abortion law from Laura Hercher, check out The Beagle Has Landed her podcast episode with Jordan Brown. NSGC 2021 Conference Session B03: The Devil is in the Details: Race-Based Medicine and Healthcare Disparities in Genetic Counseling with Sally RodríguezComparing race/ethnicity based vs panethic carrier screening How laboratories use ethnicity in carrier screening Pitfalls of race/ethnicity based testingIssue with self-reported race/ethnicitySelf-reported race vs genetic ancestry Calculate carrier residual risk of being a carrier based ethnicity Cause of disparities in residual risks Testing for genetic ancestry as part of carrier screening ACMG updated practice guidelines Downstream effects of disparities in carrier screening How healthcare providers can solve carrier screening disparity issues Other NSGC 2021 sessions mentioned during the episode:C02: Prenatal Testing: When Multiple Technologies Reveal More than Meets the Eye LabCorp sponsored with case presentations by Samantha Caldwell, Lila Dayani, and Deanna HutchinsonC03: 2021 Janus Lecture: “You Can Never Feel My Pain”: The History and the Future of Sickle Cell Disease. Presented by Barbara HarrisonD02: The Routine Incorporation of Molecular Ancestry into Carrier Screening: Sema4's Clinical Experience. Presented by Lisa Edelmann and Audra Bettinelli Stay tuned for the next new episode of DNA Today this Friday on October 1st where we explore the genetics of ALS with Genomenon! New episodes are released on the first and third Friday of the month, with some bonus episodes like this one! In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Learn more about the clinical study and refer a patient to a study center here. (SPONSORED)If you're a healthcare provider helping pregnant patients you have inevitably been asked the question, “Can I take this medication during my pregnancy”? Then you need TERIS, a clinical electronic resource that contains information on the teratogenic risks of over 1,700 medications and other environmental exposures and infections, including 200 of the most frequently prescribed drugs. What makes TERIS a unique database? TERIS is governed by an Advisory Board of world-renowned experts in clinical teratology and is an intellectual property of the University of Washington. Visit TERIS today for your free no obligation 2-week evaluation license. (SPONSORED)

Joining our host, Kira Dineen, is Rich Hogan. Rich is the Founder and President of Cure Rare Disease, a company that develops customized therapeutics for those who have been diagnosed with rare, genetic diseases that have no treatments or cures. On this episode, we specifically sat down to discuss Duchenne Muscular Dystrophy during DMD awareness month!Rich Hogan has a deep passion for reimagining how rare and ultra-rare diseases are treated. With a younger sibling impacted by a rare disease, Rich has a strong interest in accelerating promising treatments for rare diseases. He formed an interdisciplinary collaboration of world-class researchers and clinicians to pioneer the rapid development of customized therapies for rare, genetic diseases. Prior to making his foray into biotech, Rich had extensive experience working in new business development at Corning Incorporated where he led the successful launch of a new product line. He also launched a successful car washing business in New York. He holds a BS from Cornell University where he graduated summa cum laude and an MBA from Harvard Business School where he was awarded the Blavatnik Fellowship for Life Science Entrepreneurship. Rich was recognized by Business Insider as one of ‘30 leaders under 40 transforming healthcare in 2020' and, most recently, was named on the 2021 Forbes 30 under 30 list.On This Episode We Discuss:Patient advocacy DMD heredityFounding Cure Rare Disease Current and developing treatments for DMDIn-vitro versus in-vivo researchNeutralizing antibodies To learn more about Rich, DMD, and Cure Rare Disease at cureraredisease.org. If you live in Canada, check out Muscular Dystrophy Canada at muscle.ca, which serves 50,000 Canadians impacted by neuromuscular disorders themselves, family members/caregivers, healthcare professionals, and researchers. They support individuals impacted by neuromuscular disorders by investing in research, delivering critical programs and services, and challenging public policy.Genomenon is a genomic health IT company powering precision medicine with genomics. Genomenon has designed the Mastermind Genomic Search Engine, which is used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield, and assure repeatability in reporting genetic testing results. Genomenon also created the Mastermind Genomic Landscapes to inform pharmaceutical and bio-pharma companies on precision medicine development and deliver genomic biomarkers for clinical trial target selection. Look out for our October 1st episode, the founder of Genomenon will be a guest on DNA Today to explore the genetics of ALS. Learn more about Genomenon at genomenon.com (SPONSORED). If you enjoy DNA Today you will also love Eureka's Sounds of Science, a podcast from Charles River. Sounds of Science tells the stories of how – how chicken eggs impact vaccine development; how a single parent can change the FDA; how a horseshoe crab saves lives. If you enjoyed our episode (#74) with Huntington Disease patient advocate Antonio Maltese, you should check him out in this episode of Eureka's Sounds of Science podcast! Listen to Eureka's Sounds of Science on Apple Podcasts, Spotify, or wherever you download your podcasts. (SPONSORED)Stay tuned for the next new episode of DNA Today at the end of September where we'll be recapping the NSGC Annual Conference! Follow Us On...Instagram: @DNAradio (https://www.instagram.com/dnaradio/)Twitter: @DNApodcast (https://twitter.com/DNApodcast)Facebook: @DNApodcast (https://www.facebook.com/DNApodcast/)Listen On…Spotify (https://spoti.fi/39hVSUD) Apple (https://podcasts.apple.com/us/podcast...) Google (https://podcasts.google.com/feed/aHR0...) DNApodcast.com *******DNA Today is a podcast and radio show exploring genetics' impact on health through conversations with leaders in genetics like genetic counselors, researchers, doctors, and patient advocates. The show started in 2012 and features over 150 episodes. DNA Today won the 2020 Best Science and Medicine Podcast Award with nominate four other years. DNA Today is broadcast every Friday at 10:30am ET on WHUS 91.7 FM in Connecticut. New episodes are released on the first and third Friday of the month with some bonus episodes on other Fridays.

If it's part of your DNA, is it something that you can change? For the longest time the answer to that question has been no, but now that's not necessarily the case. Genetics is a world that is evolving at a rapid pace. And with a lot of new data coming out in the field, there is a growing need to sort that data and make it actionable. That's what this week's guest is doing. Genomenon is a genomic health IT company that connects genomic data with patient DNA in order to help diagnose and treat those with rare genetic cancers and diseases. They do this by providing their customers with tools to solve previously unsolvable mysteries. We sat down with Mike Klien, the CEO of Genomenon to explore the impact that their work is having on the health industry, and within the genetics market. Learn more about Genomenon: https://www.genomenon.com

This episode features special guest Mike Klein from Genomenon. SPARK.grow is hosted by Dave Haviland of Phimation Strategy Group.

On this episode of Bottom Line IT, host Mike Maddox of ASK sits down with Mike Klein who is the CEO of Genomenon. The word Genomenon means “born out of need” in ancient Greek, which is the perfect way to describe how this company got its start. Billions of dollars are spent on medical research every year. However, gaining access to that information is a bit easier said than done. In his clinical practice and genomic research, co-founder Dr. Mark Kiel was frustrated with the lack of direct access to the vast amount of genomic research out there, leaving him to thumb his way through medical white pages and clinical trials populated by a Google search.

On this episode of Bottom Line IT, host Mike Maddox of ASK sits down with Mike Klein who is the CEO of Genomenon. The word Genomenon means “born out of need” in ancient Greek, which is the perfect way to describe how this company got its start. Billions of dollars are spent on medical research every year. However, gaining access to that information is a bit easier said than done. In his clinical practice and genomic research, co-founder Dr. Mark Kiel was frustrated with the lack of direct access to the vast amount of genomic research out there, leaving him to thumb his way through medical white pages and clinical trials populated by a Google search.

On this episode of Bottom Line IT, host Mike Maddox of ASK sits down with Mike Klein who is the CEO of Genomenon. The word Genomenon means “born out of need” in ancient Greek, which is the perfect way to describe how this company got its start. Billions of dollars are spent on medical research every year. However, gaining access to that information is a bit easier said than done. In his clinical practice and genomic research, co-founder Dr. Mark Kiel was frustrated with the lack of direct access to the vast amount of genomic research out there, leaving him to thumb his way through medical white pages and clinical trials populated by a Google search.

On this episode of Bottom Line IT, host Mike Maddox of ASK sits down with Mike Klein who is the CEO of Genomenon. The word Genomenon means “born out of need” in ancient Greek, which is the perfect way to describe how this company got its start. Billions of dollars are spent on medical research every year. However, gaining access to that information is a bit easier said than done. In his clinical practice and genomic research, co-founder Dr. Mark Kiel was frustrated with the lack of direct access to the vast amount of genomic research out there, leaving him to thumb his way through medical white pages and clinical trials populated by a Google search.

On this episode of Bottom Line IT, host Mike Maddox of ASK sits down with Mike Klein who is the CEO of Genomenon. The word Genomenon means “born out of need” in ancient Greek, which is the perfect way to describe how this company got its start. Billions of dollars are spent on medical research every year. However, gaining access to that information is a bit easier said than done. In his clinical practice and genomic research, co-founder Dr. Mark Kiel was frustrated with the lack of direct access to the vast amount of genomic research out there, leaving him to thumb his way through medical white pages and clinical trials populated by a Google search.

On this episode of Bottom Line IT, host Mike Maddox of ASK sits down with Mike Klein who is the CEO of Genomenon. The word Genomenon means “born out of need” in ancient Greek, which is the perfect way to describe how this company got its start. Billions of dollars are spent on medical research every year. However, gaining access to that information is a bit easier said than done. In his clinical practice and genomic research, co-founder Dr. Mark Kiel was frustrated with the lack of direct access to the vast amount of genomic research out there, leaving him to thumb his way through medical white pages and clinical trials populated by a Google search.

In Talking Precision Medicine podcast we sit down with experts on the application of AI and big data analytics in the drug discovery space. Our guests are innovators, business decision makers and thought leaders at the intersection of data and therapeutics. We discuss the promise, practice, challenges, and myths of AI in precision medicine. This show is brought to you by Genialis, and Rafael, our CEO, is your host. Genialis is focused on data integration and predictive modeling of disease biology to help accelerate the discovery and de-risk the development of novel therapeutics. Today we speak with Mark Kiel. Mark is the founder and Chief Scientific Officer at Genomenon where he shepherds the product vision and implementation of the Mastermind suite of software tools. He completed an MD / PhD fellowship in Molecular Genetic Pathology at the University of Michigan. In this episode, Mark describes the genesis of his vision to organize the world’s molecular data and his journey to realize the promise of genomic medicine.

Today's episode features Mark Kiel, the CSO and Co-Founder at Genomenon! The show host is Barbara Fortini, an assistant professor of genetics in the Keck Graduate Institute (KGI) School of Pharmacy and Health Sciences and the Master of Science in Human Genetics and Genomic Data Analytics (MSGDA) program coordinator. KGI has become the first academic partner in a new genomics education program launched by Genomenon, creator of the Mastermind genomic search engine providing search results from the full-text database of 6.5 million genomic-focused scientific articles. “We feel strongly that Mastermind is the best way to interpret variants and make clinical decisions more quickly. We realized that schools like KGI are the future of genomics. We’re partners in equipping the next generation of genomic scientists,” says Candace Chapman, director of marketing for Genomenon, a privately held company founded in Ann Arbor, Michigan, in 2014. Fortini adds, “It is a meeting of the minds. Genomenon is interested in making relevant products to understand variation in the human genome. KGI is interested in revolutionizing education and is the first of its kind to educate students for evolving roles in clinical genomics and genetic counseling.” Here are a few different links and resources mentioned in this interview: Mark's Comeback Story Sign up for the Mastermind Genomic Search Engine (Basic Edition is free) Genomenon's Variant Interpretation Cards

Dr. Mark Kiel, Founder and Chief Scientific Officer of Genomenon based in the United States, participate in Risk Roundup to discuss Diagnostic Genomics and Security Risks – Genomic Search Engines and Genome Interpretation. Genomics Diagnostics and Security Risks How is Human Disease Genomics transforming medicine? It is said that this is the best of times for […] The post Diagnostic Genomics and Security Risks appeared first on Risk Group.