Podcasts about Global Genes

Send us a textIn this special episode of Confessions of a Rare Disease Mama, I'm sharing the live audio from a panel I had the honor of moderating at the Global Genes Rare Advocacy Exchange. This conversation dives into the power of creative fundraising—something so many of us in the rare disease community are tasked with, whether we feel ready or not.You'll hear from three incredible rare parents who are using their voices, talents, and grit to fund life-changing research and support. We talk strategy, heart, and the very real emotional toll (and triumph) that comes with fundraising for our children.

Send us a textIn this episode, we sit in on the Rare Advocacy Exchange virtual series. Global Genes is hosting this series in an effort to empower rare disease leaders. As moderator, I facilitated a panel that focused on the challenges and rewards of leading in the rare disease space.The conversation covered the importance of community, collaboration, and using personal experiences to drive change. Panelists shared their journeys of advocacy, highlighting how moments of isolation became opportunities to connect and push for change.This episode is a must-listen for anyone passionate about rare disease advocacy, offering inspiration and insights for creating meaningful impact.Episode Resources: Parenting Differently When You Expect A Shorter Life with Daniel DeFabioGlobal GenesGlobal Genes: Rare Advocacy ExchangeCure DHDDSConnect with Kara, host of The Special Needs Mom Podcast:Instagram: https://www.instagram.com/thespecialneedsmompodcast/Website: https://www.kararyska.com/Join the Community:Pathway to Peace Coaching Community is currently open for enrollment. Instantly get access to authentic community and weekly coaching! Give yourself the gift of growing alongside moms who deeply understand you and will be with you in your joys and sorrows. --------> Learn More HERE

Send us a textIn this episode I welcome back (for a repeat appearance!) Director of Community Engagement of Global Genes, Mr. Daniel DeFabio. During our conversation, we dive deep into the many facets of advocacy that we, as rare parents and caregivers deal with. Daniel shares his vast knowledge and experience in the rare disease community and together we break down the eight different types of advocacy that every rare disease parent/caregiver or patient can engage in.From policy advocacy to school support, Daniel explains how each form of advocacy plays a vital role in making an impact, whether you're new to advocacy or a seasoned advocate looking to expand your influence. We explore how these various types empower families, patients, and communities to drive change at both a personal and systemic level.Tune in to gain valuable insights on how you can take actionable steps in your advocacy journey, no matter where you are in your path, and learn more about the incredible work of Global Genes in uniting the global rare disease community.Daniel's 8 Stages of Advocacy ArticleLearn more about Daniel DeFabioRegister for Global Genes Patient Advocacy SummitLearn how to tell your storyBeginners guide to rare diseaseBe sure to follow us on social media and subscribe for more episodes that bring you stories and insights from those who truly understand the rare disease journey.https://www.confessionsofararediseasemama.com/Get your FREE Positive Affirmations for the Medical Parent PDF here!Buy your "Embracing the Rare" T-shirt!Learn more about my children's fight with ASMD and donate to our causeFollow us on instagram!

Angie Rowe serves as President and Chief Executive Officer of Beyond Blindness. Through their mission-focused programs, Beyond Blindness empowers children with visual impairments and other disabilities to achieve their fullest potential. Beyond Blindness envisions a world where all children, no matter their abilities are equipped to live full and rewarding lives. Angie is committed to the integrative and comprehensive Journey of Care provided by Beyond Blindness, giving families the security of knowing they will be with them throughout their child's lifetime in whatever way they need or want them to be. Previously, Angie served as Chief Operating Officer and Chief Financial Officer of Global Genes, a rare disease patient advocacy organization. Angie believes in the power of collaboration and serves on the boards of several agencies in Orange County. She currently serves as treasurer and is a founding board member of CAABVI (California Agencies for the Blind and Visually Impaired), the Orange County regional representative and Treasurer of the board for CAPSES (California Private Special Education Schools), (OCDC) Orange County Disability Coalition, and is a member of OneOC's Non-Profit Advisory Board. She is also a graduate of the highly selective Octane OC Non-Profit Accelerator program. She is a past President of the Junior League of Orange County and through that found both her passion for nonprofit work and training and mentoring young women. She still actively volunteers as Chapter Advisor for Alpha Chi Omega's Delta Psi Chapter at UC Santa Barbara as well as formally mentors Experian executives as part of Octane's Women Leaders programming. Angie has a Master of Science in Public Policy and a Certificate in Industrial Systems Engineering from Georgia Institute of Technology and a Bachelor of Science in Environmental Resource Management from Penn State University. She has two grown sons, Colin and Brady, who reside together and are young professionals in Phoenix. She, her husband Bob, and rescue dog, Urbi are 25-year residents of Aliso Viejo, CA. -- Critical Mass Business Talk Show is Orange County, CA's longest-running business talk show, focused on offering value and insight to middle-market business leaders in the OC and beyond. Hosted by Ric Franzi, business partner at REF Orange County. Learn more about Ric at www.ricfranzi.com. 

Daniel DeFabio turned his personal tragedy into a mission to support others. After losing his son Lucas to Menkes syndrome at just 11 years old, Daniel dedicated himself to the rare disease community, now serving as the Director of Community Engagement for Global Genes. Learn about Lucas's journey, from his premature birth to his brave fight with Menkes syndrome. Hear Daniel's story of grief, resilience, and the milestones that marked Lucas's life.Discover how Daniel found purpose in advocacy, transforming his experience into a force for positive change in the rare disease community. Join us for an emotional and inspiring conversation about love, loss, and the power of turning personal pain into community strength. Don't forget to like, comment, and subscribe for more impactful stories. Find Daniel & His Impactful Work

Today on the podcast is the Founder & CEO of Soul Focus Sports & Run Local Ventures, JT Service.  JT is one of the kindest and most fired-up individuals I've ever met. I've had the privilege of working with him at a few events last year, and this guy is next level.  Soul Focus specializes in event production and experiential for numerous clients as well as developing our proprietary Run Local Event Series. Current event clients include the San Francisco Giants, Under Armour, HOKA, Global Genes, Cumulus Media, JP Morgan Chase, and others.  JT was also a fantastic runner back in the day and has made the US Olympic Marathon Trials.  In today's conversation, JT takes me through his day-to-day life, what it's like expanding a business, how he's grown Soul Focus so much over the years, the importance of a morning routine, his years as an extremely successful runner, and much more! I absolutely loved this conversation and grew a lot from it. Take the time to be blessed by JT's words.  Tap into the JT Service Special.  You can listen wherever you find your podcasts by searching "The Running Effect Podcast." If you enjoy the podcast, please consider following us on Spotify and Apple Podcasts and giving us a five-star review! I would also appreciate it if you share it with your friend who you think will benefit from it.  The podcast graphic was done by the talented: Xavier Gallo  S H O W N O T E S -THE PODCAST ON YOUTUBE: https://www.youtube.com/channel/UClLcLIDAqmJBTHeyWJx_wFQ -My Instagram: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://www.instagram.com/therunningeffect/?hl=en⁠⁠⁠⁠⁠⁠⁠⁠ -My Newsletter: https://therunningeffect.substack.com --- Send in a voice message: https://podcasters.spotify.com/pod/show/dominic-schlueter/message

Shruti Mitkus is the Director of Genetic Education and Navigation at Global Genes, a leading rare disease patient advocacy organization. Shruti is a human molecular genetics scientist and genetics educator. She earned her doctorate in Human Genetics from University of Maryland Baltimore and completed her post-doctoral training at the National Institute of Mental Health, researching the genetic mechanisms of neuropsychiatric conditions such as schizophrenia and bipolar disorder. After working in many different areas related to genetics, such as basic research, pharmacogenomics, genetic diagnostics, and variant interpretation, Shruti felt driven to engage more closely with patients and communities. She transitioned to patient advocacy and now directs programs that inform families about the molecular genetic causes of their illness, guide them through the diagnostic process and educate them about gene-based treatments, work that she describes as “genetic advocacy”. While Shruti loves the science of genetics, she is most passionate about translating her knowledge of genetics in an approachable manner and addressing barriers to access genetic testing and cutting-edge treatments. She is an ardent believer in the power of education to empower and ultimately improve the lives of patients and families. Shruti can be reached at https://www.linkedin.com/in/shruti-mitkus-rarediseasegenetics/

You're not alone! When you're here, you're part of a globally connected community committed to eliminating the challenges of rare diseases. Global Genes is committed to providing information, resources, and connections to all communities affected by rare diseases. Global Genes is a 501(c)(3) non-profit organization dedicated to eliminating the burdens and challenges of rare diseases for patients and families globally. The RARE Drug Development Symposium, hosted by Global Genes and the Orphan Disease Center of the University of Pennsylvania, equips advocates with the knowledge, skills, and connections they need to advance therapy development for their communities. This year's theme is Innovative Ideas from Next Generation Change-Makers. Rare Drug Development Symposium (4/29/2024 - 5/1/2024) - https://globalgenes.org/event/rare-disease-drug-development/ Rarely Told Stories - https://globalgenes.org/resources/#/types/story Rarecast (Podcast) - https://www.levinemediagroup.com/rarecast/ Disorder: Rare Disease Film Festival - https://www.rarediseasefilmfestival.com/ EveryLife Foundation for Rare Diseases - https://everylifefoundation.org/ "The Mighty" (movie) - https://www.imdb.com/title/tt0119670/ Connect to learn more: Web: https://globalgenes.org/ Phone: (+1) 949-248-RARE (7273) FB: @GlobalGenes X: @GlobalGenes IG: @globalgenes Episode Transcript: https://docs.google.com/document/d/1tsUg4k-B1GpEfFfk9JCdQtTE9MKTkYCD/edit?usp=sharing&ouid=117716030289987185197&rtpof=true&sd=true As an Amazon Associate, I earn commissions from qualifying purchases. For more information about True North Disability Planning you can find us here: Web: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://truenorthdisabilityplanning.com/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Waypoints - ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://waypoints.substack.com/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Facebook: @TrueNorthDisabilityPlanning X (Twitter): @NeedsNavigator --- Send in a voice message: https://podcasters.spotify.com/pod/show/abcs-disability-planning/message Support this podcast: https://podcasters.spotify.com/pod/show/abcs-disability-planning/support

Kate interviews Carla D'Imperio, fellow PMSF staff member and Family Support Specialist, on a program she leads to support mental health for Phelan-McDermid syndrome caregivers. This program, called Caregiver Support Groups, was started last year with funding from Global Genes and is continuing into 2024. Carla explains the decision to start this program and the positive impact it has made in the community. She delves into the importance of having licensed professionals lead these sessions. And she describes which groupings are offered, how to sign up, and how the program is changing over time. International families are welcome to join and the program is free to families. For more information or to sign up, see: https://pmsf.org/caregiver-support-groups/.

Despite existing laws and regulations intended to protect the rights of people with disabilities to fly on airlines, travelers with wheelchairs and medical equipment face obstacles to enjoying the freedom of movement others take for granted. Neglectful handling of equipment, lack of training, and failure to adequately accommodate these travelers have led to a public call for airlines to do more to recognize the rights of people with disabilities. We spoke to Global Genes' Director of Community Engagement Daniel DeFabio and Founder and President of The Jansen's Foundation Neena Nizar, about the challenges disabled airline passengers face, what the law says, and why this is a civil rights issue.

Welcome to Episode 058 of the Beyond the Diagnosis Podcast. Join us as we talk with 3 Histio Ambassadors, Melinda Atnip, Ana Valdez and Nate Milam, about their experiences at the recent Global Genes conference and how their mutual goal is to show up, share their voice and make an impact. Additional Show Notes: Let us know what you think! Leave us a review, drop us a comment or share an idea for a future podcast with us at podcast@histio.org.  Take a screenshot and tag us @histiocytosis_association on Instagram. We'd love to hear your feedback!   Be sure to subscribe so you can be notified the moment a new episode of Beyond the Diagnosis is released.   We would love it if you would consider supporting this podcast financially so we can continue to bring you relevant and timely information while on your histio journey.  To learn more visit https://podcasters.spotify.com/pod/show/histio/support   Resources mentioned in the podcast: ·       Histio Ambassador Program: https://histio.org/ambassador-volunteer-program/ ·    For more information about Histiocytosis Awareness Month: https://histio.org/get-involved/raise-awareness/ ·    World Orphan Drug Congress: https://www.terrapinn.com/conference/world-orphan-drug-congress-usa/index.stm ·     Global Genes: https://www.globalgenes.org      ·    Imperfect Joy: https://imperfectjoy.com/ ·     Follow the Histiocytosis Association on social media: Facebook: https://www.facebook.com/histio Twitter: @histiocytosis Instagram: histiocytosis_association YouTube: https://www.youtube.com/histiocytosisassoc Music: “Heroes” by Noah Smith --- Support this podcast: https://podcasters.spotify.com/pod/show/histio/support

Congrats to… - Allan Blake on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised by Suzanne   - Katrien on the ILAE #SYNGAP10 #S10e115  Webinar coming up:   Behaviour, Cognition and Sensory Processing in People with SYNGAP1   Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg   Sept 28 @ 9am PT/ 5pm GMT   Still a classic: Mike to FDA on SYNGAP1 For ORCA https://www.youtube.com/watch?v=AObE7NhSlmg&t=447s  Events to mention  - Global Genes, DEI - 9/18 - 9/23 - Vicky and Mike  - 2nd Scientific Conference in Spanish (virtual) 9/23 - Cannonball 10/4-10/6; Brett, Peter, Monica & Reece listen to Stories Episode 12 MH!  - Scramble 10/7 Julie Miles https://syngap.fund/scramble   - Park City Epilepsy Mtg 10/15 - 10/17; Mike, JR  - Gala 10/21 Nancy Kessler https://syngap.fund/CLG3   - Conference 11/30 & 12/1 + Sea World or Disney 12/2 Conference - Sign up by Halloween - We need head counts.  - Registration link: https://Syngap.Fund/Orlando    - Hotels: https://Syngap.Fund/2023hotel   - Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/  Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP!  - Volunteer! 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 116 of #Syngap10 - September 18, 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

Congrats to… - Allan Blake on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised by Suzanne   - Katrien on the ILAE #SYNGAP10 #S10e115    Webinar coming up:   Behaviour, Cognition and Sensory Processing in People with SYNGAP1   Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg   Sept 28 @ 9am PT/ 5pm GMT     Still a classic: Mike to FDA on SYNGAP1 For ORCA https://www.youtube.com/watch?v=AObE7NhSlmg&t=447s    Events to mention in SYNGAP10  - Global Genes, DEI - 9/18 - 9/23 - Vicky and Mike  - 2nd Scientific Conference in Spanish (virtual) 9/23 - Cannonball 10/4-10/6; Brett, Peter, Monica & Reece listen to Stories Episode 12 MH!  - Scramble 10/7 Julie Miles https://syngap.fund/scramble   - Park City Epilepsy Mtg 10/15 - 10/17; Mike, JR  - Gala 10/21 Nancy Kessler https://syngap.fund/CLG3   - Conference 11/30 & 12/1 + Sea World or Disney 12/2   Conference - Sign up by Halloween - We need head counts.  - Registration link: https://Syngap.Fund/Orlando    - Hotels: https://Syngap.Fund/2023hotel   - Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/  Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP!  - Volunteer! 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 116 of #Syngap10 - September 18, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

ONCE UPON A GENE - EPISODE 197 Rare Disease Dad Chronicles - From Stay-At-Home Fatherhood to My Mejo Co-Founder A Journey Through Costello Syndrome and Parenthood Challenges with Dadvocate - Ryan Sheedy Ryan Sheedy is a dadvocate and the Co-Founder of My Mejo. He shares his journey of courage and determination to provide a service for the rare disease community through My Mejo and of being a rare dad.  EPISODE HIGHLIGHTS Can you tell us about your journey as a rare disease dad? My wife and I found out unexpectedly that we were having twins and that has been the theme of our journey-- you can think and prepare for what will happen and then throw it out the window because you're not in control. Reynolds and Campbell are five and a half years old. We weren't aware of complications with the twins, my wife had a scheduled c-section and we were excited to meet our babies. When they were born, it wasn't the joyous moment we imagined experiencing because both babies immediately experienced complications. That began our journey of a lot of unanswered questions, research, praying, hoping and tests.  What was the motivation for starting the My Mejo platform? During the time in the NICU and trying to keep all the information organized and detailing it for sharing, I drafted the idea to solve the problem of remembering everything and connecting the dots. I created a one pager of all Reynolds' key information and I'd provide it to all new providers and therapists. Reynolds was the inspiration for the platform, but I'm inspired daily by the people I get to meet because of the platform. We launched in June 2022 and today we have 1,400 users using the platform across the country.  How does the My Mejo platform work? My Mejo allows you to collect and consolidate all the information you may need into one place and allows caregivers to provide all the information relating to a child to healthcare professionals or other caretakers. We have a section called Getting to Know Me where parents can note personal details that humanize medical encounters. We work on simplicity everyday- on keeping the platform super simple and very useful. Instead of information being scattered across different places, My Mejo allows you to organize information in a format that is easy on the eye in a version that can be downloaded into a .pdf file, journal, playbook or through text or email with controllable access rights. I should also mention that the platform is completely free for families to use. Exciting News! We've partnered with Dante Labs, the global leader in genomics, for a series of podcast episodes on "Once upon a gene". Discover their Rare Disease Health Package offering comprehensive Whole Genome Sequencing for rare disease patients. Uncover the mysteries of your genetic makeup and find potential treatment options. Learn more at us.dantelabs.com #Genomics #RareDiseaseHealth #DanteLabs #OnceUponAGene" LINKS & RESOURCES MENTIONED Mejo https://www.mymejo.com/ Global Genes 2023 RARE Advocacy Summit https://globalgenes.org/event/rare-advocacy-summit/ Costello Syndrome Family Network  https://costellosyndromeusa.org/ Dante Labs https://us.dantelabs.com/ International Rett Syndrome Foundation https://www.rettsyndrome.org/ My Rett Ally https://myrettally.mymejo.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!

If you need a boost of inspiration, a bit of laughter, and a lot of intention, listen to our special guest on the Newborn Screening SPOTlight podcast Effie Parks, who transformed her experiences raising a son with a rare disease to helping others by sharing their stories on her podcast, Once Upon a Gene.  The best way to describe Effie may be as the rare disease parent's best friend… and greatest resource!   She was born in Montana, where she was raised with her 12 siblings.  After moving to Washington and marrying her husband, they were blessed with the birth of their son, Ford Canon Parks.  When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she immersed herself into the world of advocacy.  Now, she is the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare disease. Since the launch of the podcast, Once Upon A Gene was awarded “Best In Show Podcast” by WEGO Health. Podcast Magazine recognized Effie as one of the 40 Under 40 Podcasters and she has been nominated for two Champion of Hope awards from Global Genes. Her mission is to learn, lift voices of the community, connect people to resources and to leave this world better than she found it for others in the rare disease world.   Interview Questions:  You are the host of podcast of Once Upon a Gene, where you speak to others about their journey through life with rare disease. Your mission is to learn, lift voices of the community, connect people to resources and to leave this world better than you found it for others in the rare disease world. What inspired you to start your podcast?   Your baby was diagnosed with a rare disease called CTNNB1 syndrome. Can you tell us what led to the diagnosis and what happened next?   Researchers discovered the genetic testing for CTNNB1 syndrome. While there is no single treatment for CTNNB1 Syndrome, each of the symptoms associated with the syndrome may be treated. Also, CTNNB1 gene is a good candidate for genetic replacement therapy. This exciting to hear the new development and research in treatments. Could you share your process in caregiving to your child with CTNNB1 syndrome? Any advice for new moms? Newborn screening identifies metabolic and genetic disorders at birth. Before your child was diagnosed with CTNNBI, were you aware of newborn screening? What do you think prospective parents should know about newborn screening? You are the host of Once Upon A Gene podcast, can you tell us what inspired to start the podcast? On your Once Upon a Gene blog, you shared that the movie “Back to Future” and especially the main cast member, Michael J. Fox have inspired you. Can you elaborate in what ways to our listeners?  What has been going on in your life recently that you expected and didn't expect?  As you know NBSTRN creates tools and resources to help stakeholders to advance newborn screening research. How could NBSTRN and other organizations such as the Rare Diseases Clinical Research Networks supported by the National Center for Advancing Translational Sciences (NCATS) help you and your community to advance rare disease awareness?  Where can people go to learn more about you? What can people expect from you next?  What is one final thought that you want to leave our listeners with?  What does newborn screening research mean to you?  

Meet warrior, Jewel Dukes. After experiencing unexplained, rapid weight gain, extreme fatigue, mini-strokes and various other symptoms in 2021, Jewel began the difficult journey to find her proper diagnosis of Cushing's Disease. This rare condition required pituitary surgery and caused her to become adrenally insufficient. Two major adrenal crises, several ER visits, and other health complications and comorbidities such as Lipedema, Arthritis, Sickle Cell Trait, and Spinal Stenosis soon followed. In Part One, listen as Jewel shares her health journey including her diagnosis discovery and all her comorbidities. Jewel wishes to raise awareness on Cushing's Disease and all the facets of living with chronic illness through her social media, various podcasts and by participating in the Rare Compassion Program. The Rare Compassion Program by Global Genes offers the opportunity for rare disease patients to share their disease and experience with a medical student. To learn more about The Rare Compassion Program, go  https://globalgenes.org/participate/rare-compassion-program/ and to learn more about Jewel Dukes, go to her social media @thelipedemacushie on Instagram and @Jewel Dukes on Facebook. 

Mary Morlino knows what it's like to search for information and resources for a loved one with a rare disease or yourself. She had two nephews who were diagnosed with the rare neuromuscular disease Becker muscular dystrophy and later she was diagnosed with the rare autoimmune condition sarcoidosis. She now performs that search for information and resources professionally, so others don't have to do so. Today, Morlino serves as Global Genes' RARE Concierge Patient Services manager. The service serves as an entry point for patients, caregivers, patient advocates, and other rare disease stakeholders in search of information, resources, and connections. We spoke to Morlino about her own rare disease journey, the work she's doing as part of Global Genes' RARE Concierge program, and the need she is addressing.

Happy (almost) Father's Day to all you incredible Dad-vocates out there. This week I spoke with one exceptional Father, Daniel DeFabio, that saw the injustice of the rare disease world after his son Lucas, was diagnosed with Menkes Disease and decided to take action. Daniel has made a career out of spreading awareness and honoring his son's memory as a rare disease advocate. He co-founded Disorder, the rare disease film festival, as well as the Disorder Channel, is a writer and blogger in residence for Courageous Parents Network, and is the Director of Community Engagement at Global Genes.  I truly appreciated how open, honest, and real he was during our conversation.  We talk about everything from diagnosis, stages of grief,  his career transition to advocacy, how he's making an impact on the rare disease world, what role hope plays in his life, and so much more. Happy listening, friends! Daniel's social links: https://www.facebook.com/rarediseasefilmfestival https://www.instagram.com/disorderrarediseasefilms/https://www.linkedin.com/company/disorder-the-rare-disease-film-festival/https://twitter.com/DisorderRareRead Daniel's thoughts on hope here.Learn more about the Disorder Channel here.Learn more about Global Genes here.https://www.confessionsofararediseasemama.com/Learn more about my children's fight with ASMD and donate to our cause:https://www.saveromanandstella.com/Follow on instagram: https://www.instagram.com/confessionsofararediseasemama/

RARE MAMAS RISING- EPISODE 26 Driving Discoveries with Principal Investigator at the Center for Integrative Brain Research at Seattle Children's Research Institute, Assistant Professor in the Department of Pediatrics, Division of Genetic Medicine at the University of Washington & Rare Mama Dr. Kim Aldinger   Dr. Aldinger is a Principal Investigator in the Center for Integrative Brain Research at Seattle Children's Research Institute and an Assistant Professor in the Department of Pediatrics, Division of Genetic Medicine at The University of Washington. She received a BA in biology from Brandeis University, an ALM in psychology from Harvard University, and a Ph.D. in neurobiology from The University of Chicago. Dr. Aldinger has over 20 years of research experience applying neuroscience and genomics techniques to understand the impact of genetic changes on the development of brain structures and functions relevant to neurodevelopmental disorders. She is also the mom of twins Chloe and Grayson. Grayson has a rare genetic disease called MAST4. Dr. Aldinger understands the impact of a rare disease from both a professional, scientific perspective and a personal parent viewpoint. Her deep roots in research, coupled with her passion to contribute to the rare disease community, make her one to watch as she helps drive discoveries!  EPISODE HIGHLIGHTS Dr. Aldinger's path to becoming a brain researcher  The work Dr. Aldinger does as a Professor of Genetic Medicine and as a Principal Investigator  Grayson's diagnostic journey and MAST4 diagnosis  How Dr. Aldinger co-founded the MAST Genes Research Foundation and the work she's doing on MAST genetic mutations How being a mom to a child with a rare condition informs Dr. Aldinger's work  Advice for rare parents on how to approach research Dr. Aldinger's best learnings for fellow rare mamas   LINKS & RESOURCES MENTIONED   Kimberly Aldinger https://www.seattlechildrens.org/research/centers-programs/integrative-brain-research/our-labs/aldinger-lab/ Twitter: https://twitter.com/kaaldinger MAST Genes Research Foundation  Website: https://mastgenes.org/ Facebook: https://www.facebook.com/groups/780432716601479 Twitter: https://twitter.com/mastgenes     Seattle Children's Research Institute https://www.seattlechildrens.org/research/   The University of Washington  https://www.peds.uw.edu/specialties/genetic-medicine   American Epilepsy Society https://aesnet.org/   Global Genes https://globalgenes.org/ CONNECT WITH NIKKI   Facebook https://www.facebook.com/RareMamas1/ Instagram https://www.instagram.com/Rare_Mamas/ Website https://raremamas.com/ Email info@raremamas.com

Today's Episode Dr. Raj talks with Mary McGowan about the pressing issue of the lack of awareness of sarcoidosis, its impact on minority groups, and the strides she is making to increase education and support for those affected by this autoimmune disease. Today's Guest  Mary McGowan is the CEO of The Foundation of Sarcoidosis Research (FSR), a leading international organization dedicated to finding a cure for sarcoidosis and improving care for patients through research, education, and support. Founded in 2000, FSR has fostered over 6 million in sarcoidosis-specific research efforts. Mary joined FSR as the organization's first CEO in 2020. As CEO, she serves as the primary representative and spokesperson for FSR and leads the organization's strategic vision with patient engagement, strategic partnerships, fundraising, advocacy efforts, program direction, and aggressive communications and research agenda. Mary brings 35 years of non-profit leadership and management experience to this role.  Prior to joining FSR, she served as executive director of The Myositis Association (TMA). As executive director of TMA, Mary was featured and highlighted as a preeminent rare disease leader by numerous entities including American Autoimmune-Related Disease Association, Global Genes, and the National Organization for Rare Diseases. Mary served as CEO of WomenHeart: The National Coalition for Women with Heart Disease. During her 8 years with WomenHeart, McGowan ensured the organization's long-term growth and sustainability as the leading voice for the 48 million American women living with or at risk of heart disease. McGowan also served as Executive Director of the Allergy & Asthma Network, the leading nonprofit organization dedicated to eliminating suffering and death due to asthma, allergies and related conditions. Mary has a Master's Degree in Human Resources Development from George Washington University and a B.A. from Trinity University. Foundation for Sarcoidosis Research Website Fight Sarcoidosis Merchandise Sarcoidosis Awareness Month T-Shirts (on sale until April 17th, 2023)  About Dr. Raj Dr Raj is a quadruple board certified physician and associate professor at the University of Southern California. He was a co-host on the TNT series Chasing the Cure with Ann Curry, a regular on the TV Show The Doctors for the past 7 seasons and has a weekly medical segment on ABC news Los Angeles. Want more Dr. Raj? Check out the Beyond the Pearls lecture series! The Ultimate High Yield Bundle: The complete review of high-yield clinical medicine topics necessary for graduate medical education board exams including NBME, USMLE Steps 1/2/3, ITE and ABIM Boards. You can also listen to the Beyond the Pearls podcast. Check out our other shows: Physiology by Physeo Step 1 Success Stories The InsideTheBoards Study Smarter Podcast The InsideTheBoards Podcast Produced by Ars Longa Media To learn more about us and this podcast, visit arslonga.media. You can leave feedback or suggestions at arslonga.media/contact or by emailing info@arslonga.media. Produced by: Christopher Breitigan and Erin McCue. Executive Producer: Patrick C. Beeman, MD The information presented in this podcast is intended for educational purposes only and should not be construed as professional or medical advice. Learn more about your ad choices. Visit megaphone.fm/adchoices

Community with families - Amazing time with the Hardings, thank you. https://www.facebook.com/monica.cruzharding/posts/pfbid02WPzjhp3jSMtetB2vHCvMDtyUzqFD2SdP6Ebi68XF8TZdqhvJoqMywVWASp4x8mVUl  - Hattie and Tony at the pool with the Fosters -  Foster movie link on website: https://www.syngapresearchfund.org/patient-stories/hattie/   -  Foster press - 3/13/23 - KMBC News: https://www.kmbc.com/article/we-re-so-hopeful-local-girl-fighting-rare-disease/43279999/   -  2/28/23 - Fox4KC https://fox4kc.com/news/kansas-city-area-family-helping-spread-awareness-after-daughters-rare-disease/  -  Throw them in occasionally.   Talking to 2 year olds - LA, NorCal, DC, NY - https://www.syngapresearchfund.org/post/140-my-reema-syngap1 - You are fortunate to know. - Your future will be different and we have written that story, see McKee and Brimble -  https://twitter.com/JillianLMcKee/status/1600202742269501442  -  https://twitter.com/cureSYNGAP1/status/1636177159059574784 -  We chose between Love and Fear, Hope and Despair https://www.demellospirituality.com/love-or-fear/ -  Choose hope, love you kiddo by joining SRF and working with us for a better future.   Amazing Webinars - From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development  - Jeff Coller - mRNA - March 16th  https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1  - Jillian McKee - April 27th - https://syngap.fund/mckee    Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1  - Sign-IN https://app.ciitizen.com/ Stoke and Praxis Updates - Stoke got permission to up the dose in the US, good news for patients and a sign that the FDA comes around. https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-fda-will-allow-administration  - Praxis had good news on ET and will go to Phase 3, which is good, if you remember what happened with their last drug. https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-announces-topline-results-essential1  - See Next 2023 from Global Genes, industry updates start on page 50 https://20173539.fs1.hubspotusercontent-na1.net/hubfs/20173539/2023%20NEXT%20Report.pdf    #Sprint4Syngap - https://syngap.fund/sprint - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023    There is so much work to do, volunteer Info@SyngapResearchFund.org    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 96 of #Syngap10 - March 6,  2023  #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Community with families - Amazing time with the Hardings, thank you. https://www.facebook.com/monica.cruzharding/posts/pfbid02WPzjhp3jSMtetB2vHCvMDtyUzqFD2SdP6Ebi68XF8TZdqhvJoqMywVWASp4x8mVUl - Hattie and Tony at the pool with the Fosters - Foster movie link on website: https://www.syngapresearchfund.org/patient-stories/hattie/ - Foster press - 3/13/23 - KMBC News: https://www.kmbc.com/article/we-re-so-hopeful-local-girl-fighting-rare-disease/43279999/ - 2/28/23 - Fox4KC https://fox4kc.com/news/kansas-city-area-family-helping-spread-awareness-after-daughters-rare-disease/ - Throw them in occasionally. Talking to 2 year olds - LA, NorCal, DC, NY - https://www.syngapresearchfund.org/post/140-my-reema-syngap1 - You are fortunate to know. - Your future will be different and we have written that story, see McKee and Brimble - https://twitter.com/JillianLMcKee/status/1600202742269501442 - https://twitter.com/cureSYNGAP1/status/1636177159059574784 - We chose between Love and Fear, Hope and Despair https://www.demellospirituality.com/love-or-fear/ - Choose hope, love you kiddo by joining SRF and working with us for a better future. Amazing Webinars - From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ Stoke and Praxis Updates - Stoke got permission to up the dose in the US, good news for patients and a sign that the FDA comes around. https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-fda-will-allow-administration - Praxis had good news on ET and will go to Phase 3, which is good, if you remember what happened with their last drug. https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-announces-topline-results-essential1 - See Next 2023 from Global Genes, industry updates start on page 50 https://20173539.fs1.hubspotusercontent-na1.net/hubfs/20173539/2023%20NEXT%20Report.pdf #Sprint4Syngap - https://syngap.fund/sprint - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 There is so much work to do, volunteer Info@SyngapResearchFund.org 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 96 of #Syngap10 - March 6, 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

RARE MAMAS RISING- EPISODE 24  Charging the Rare Community with The Disorder Channel Co-Founder, Global Genes Director of Community Engagement, Menkes Syndrome Advocate & Rare Dad Daniel DeFabio At the age of 12 months, Daniel's first child Lucas was diagnosed with the rare disease Menkes Syndrome. After adjusting his expectations of what raising a child might look like, Daniel began telling Lucas's story with a short documentary film. That film led to Daniel Co-founding DISORDER: The Rare Disease Film Festival and later The Disorder Channel, both dedicated to spreading awareness for patient families facing rare diseases. One of Daniel's stories about Lucas won the 2015 Global Genes Rare Patient Story Award. Daniel was a pioneer of original content online (now called web series) and co-wrote and co-produced the internet's first animated series. He has created videos and marketing materials for bio-techs, hospitals, and most major movie studios, as well as American Cinematographer, PBS, TNT's “The Closer,” and HBO's “Curb Your Enthusiasm.” He has also served as a blogger in residence for Courageous Parents Network. Daniel currently works as the Director of Community Engagement for Global Genes. Engaging the rare community is his forte, indeed! Whether telling his own story or helping others tell theirs, Daniel is a magnetic force attracting, connecting, and charging the rare community.    EPISODE HIGHLIGHTS The path to Lucas' Menkes Syndrome diagnosis The Disorder Channel and its mission Why telling our stories is important Global Genes programs and resources What being in the rare community means to Daniel Daniel's best learnings for other rare parents LINKS & RESOURCES MENTIONED Daniel DeFabio  https://www.thedisordercollection.com/danieldefabiospeaker   Menkes Syndrome https://themenkesfoundation.org/research   DISORDER https://www.thedisorderchannel.com https://www.linkedin.com/company/disorder-the-rare-disease-film-festival https://www.instagram.com/disorderrarediseasefilms/ https://www.facebook.com/rarediseasefilmfestival   Global Genes https://globalgenes.org/ Courageous Parents Network https://courageousparentsnetwork.org/   CONNECT WITH NIKKI Facebook https://www.facebook.com/RareMamas1/ Instagram https://www.instagram.com/Rare_Mamas/ Website https://raremamas.com/ Email info@raremamas.com

In this episode, we talk with our panel about updates their company gave at the recent JP Morgan Healthcare Conference that took place earlier this year. This once-yearly conference is the epicenter for biotech deal-making and groundbreaking data releases. Alejandro Dorenbaum is the Chief Medical Officer of Reneo Pharmaceuticals, a clinical-stage company developing drugs for rare mitochondrial disorders. Their lead clinical candidate REN-001 is currently being investigated in the treatment of primary mitochondrial myopathies (PMM) and long-chain fatty acid oxidation disorders (LC-FAOD). Alejandro is a seasoned biotech executive, having served as Chief Medical Officer at Allakos and Lumena Pharmaceuticals, which was acquired by Shire. Prior to those roles, he held senior positions at Genentech and Biomarin.Amy Grover is Senior Director of Patient Advocacy at Catalyst Pharmaceuticals, a commercial-stage rare disease drug development company with an approved product for the treatment of Lambert-Eaton myasthenic syndrome (LEMS). Amy works to ensure that the patient's voice is heard and well-represented. She is a seasoned patient advocate, having served as director of operations and senior manager of patient engagement at Global Genes, a rare disease patient advocacy organization that supports the 7,000 plus rare diseases. Amy led multiple efforts during her tenure at Global Genes, including patient meetups and education, advocacy outreach, communication activities, and overall operations and financial management. Before joining Global Genes, she worked in both the commercial and health insurance industries.Hosted by Joe Varriale.

ONCE UPON A GENE - EPISODE 168 Being Brave, Curious and Motivated to Help Make a Difference with DLG4 Research Mama Payal Patel I met Payal Patel at the 2022 Global Genes Patient Advocacy Summit. She's digging in and getting things done, she really impresses me and you have to meet her. You'll definitely be seeing more of this rare mom.  EPISODE HIGHLIGHTS What led up to your attendance at the Global Genes conference last year? My daughter was diagnosed with a rare disease in July 2022. I had just met another mom whose child had a mutation on the same gene and she mentioned the Global Genes conference. I decided to go, but upon arrival, I felt really out of place not knowing anyone there. I didn't know what to do and I wasn't confident in putting myself out there to network. I told my husband that I was going to fly home and he convinced me to stay and see what happened, and I'm glad I stayed. It was a magical three days of networking, learning and meeting mentors.  How did you find the courage to go to the Global Genes summit after getting a diagnosis only a couple months earlier? When I got the diagnosis, I wasn't in a good head space, but the idea of doing nothing scared me more than taking the leap of going to the conference. It was a good starting point to go and see what others were doing for their kids and it was the best decision I made. I made so many connections with rare disease advocates that have helped me to get to where I am.  How did you teach yourself about DLG4 and determine your next steps? A month after diagnosis, I shared the information within my network on Facebook and asked for help. I asked specifically for scientists, doctors and geneticists to help and so many people stepped up. A friend invited me to visit her in the lab to explain the science around how proteins work. Another friend who is a genetics counselor met with me. I attended the Global Genes summit, but I also kept researching and figuring out what to do next. I read blogs, listen to podcasts, talk to patient advocacy groups, network and ask questions.  What are you planning for right now? I feel strongly after talking to doctors and patient advocacy groups, that I want to do a drug repurposing screen for our gene. I'm taking things one step at a time-- the most obvious is a drug repurposing screen that isn't going to cost an amount of money I can't raise and it'll be impactful in the short-term for anyone impacted by DLG4. Looking at the big picture, my confidence takes a hit, so I'm taking things one day at a time, understanding that I can't control the variables of the future. LINKS & RESOURCES MENTIONED ONCE UPON A GENE - Episode 094 - The 12 Commandments to guide you when you're starting a rare disease patient advocacy group. With Nasha Fitter and Mike Graglia https://effieparks.com/podcast/episode-094-mike-and-nasha Save the Date for the 2023 RARE Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!

From what they had for lunch to some of Kevin's most meaningful moments. In this different episode, Sanath and Brittany ask Kevin about his experience at the 2022 Global Genes Patient Advocacy Summit. While we all planned to meet there, it just was not in the cards. Kevin recorded the episode on location from the Town & Country resort in San Diego.This year's Summit was the first in-person one since Covid. The experience of being back together was powerful. There were a lot of new people in attendance. And we got to reconnect with old friends. The tone of the conference was much more patient- and caregiver-centered than before. Sessions about mental health, relationships, and managing life with Rare Disease. We hope this fun discussion gives you a feel for the power of the Global Genes Patient Advocacy Summit. More importantly, we hope is encourages you to start making your plans to be there in 2024.

ONCE UPON A GENE - EPISODE 158 Medical Student - Urvi Gupta Joins the Global Genes Rare Compassion Program with Alexions Patient Advocacy Champion Wendy Erler Wendy Erler is passionate about the caregiver and patient voice being at the forefront of her work at Alexion Pharmaceuticals. Urvi Gupta is a second year medical student, working with the rare disease community to shape her professional path forward in the medical field. In this episode, I talk with Wendy Erler and Urvi Gupta about the Global Genes Rare Compassion Program.  EPISODE HIGHLIGHTS Wendy, can you tell us about yourself? I lead the patient advocacy team at Alexion, a pharmaceutical company focused on rare diseases. We work with physicians, patients, families and caregivers and my job is focused on elevating that partnership and bringing the patient and caregiver voice into everything we do.  Urvi, can you share how you became involved with the rare disease community? In a class called Clinical Correlation, we had a patient visit and they mentioned the Global Genes Rare Compassion Program, which matches up medical students with patients who have rare diseases to allow them to learn from each other. I've had three patient partners through that program and it's been amazing and inspiring to network with everyone in the rare disease community.  Urvi, how essential do you think it is to experience a true doctor-patient relationship already? So many patients say their course of treatment varies greatly based on how well their doctor listens to them. I think that's so important when it comes to rare diseases because it's not something you see often and when a patient presents a unique set of symptoms, they can't be brushed off. It's been helpful to experience and come to understand that the patient's perspective is the one that matters and what will help get a diagnosis.  Urvi, in what ways are you interested in raising awareness of the rare disease community? I would advise all medical students interested in rare disease to join the Global Genes Rare Compassion Program. There are a lot of other rare disease organizations always looking for help and there's likely a perspective you can offer.  LINKS & RESOURCES MENTIONED Global Genes Rare Compassion Program https://globalgenes.org/compassion/ Alexion Pharmaceuticals https://alexion.com/ Connor B. Judge Foundation https://www.connorbjudgefoundation.org/ CONNECT WITH WENDY & URVI Wendy Erler https://www.linkedin.com/in/wendyerler/ Urvi Gupta https://www.linkedin.com/in/urvigupta1/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

PARENTS AS RARE - EPISODE 068 Special Episode - Live from the 2022 Global Genes Rare Patient Advocacy Summit with Tim McLerran, Head of Product, Medical Intelligence One, Inc. Tim McLerran is the Co-Founder and Head of Product at Medical Intelligence One, where the mission is to care for patients based on their own deeply informative data with wisdom derived from a partnership between human and machine intelligence trained on data from billions of other humans and all of the world's medical knowledge. Tim is also launching and hosting a show called Diagnostic Odysseys, where they dive into patient stories in hopes of shortening the diagnostic odysseys patients endure. EPISODE HIGHLIGHTS What are your thoughts on patient care and face-to-face time? I got into medicine because I wanted to have a relationship with my patients. Coming through training, I could see that was not the world I was coming into, which in part is why I decided to change my career direction and focus instead on something more connected. How has your medical career transitioned into your role with Medical Intelligence One? While researching in medical school to develop methods of rapidly scanning blood, we generated large data sets of thousands of people. There was a moment that I remember staring at the numbers and realizing human minds need help from machine minds to make full use of the data. That made an impression on me, and through my clinical training, additional factors came together that inspired me to consider taking a deeper dive into bridging human and machine intelligence in medicine. I went from the clinical track to full time researching, attending conferences, reading books and reaching out to mentors. Can you tell us about Enola? Medical data is organized and stored in the electronic medical records system in a way that isn't conducive to downstream analysis and there are better ways to organize data. A colleague and I turned our attention to rare diseases and building a system where a patients can enter clinical findings, discover diseases associated with clinical findings and narrow results based on additional related findings. Once this product is developed and launched, it will be available to patients directly. LINKS & RESOURCES MENTIONED Medical Intelligence One https://www.mi1.ai/ Once Upon a Gene Podcast https://effieparks.com/podcast Enola https://www.mi1.ai/enola Tim McLerran on Linkedin https://www.linkedin.com/in/tim-mclerran/ Tim McLerran on Instagram https://www.instagram.com/p/Cj0TSFhuoVo/ FOLLOW ADAM JOHNSON Twitter @RareDiseaseDad

This is a very different style episode than what you are used to here at The Special Needs Mom Podcast.   If you've ever listened to The Moth, you'll feel right at home. This episode was recorded on-site at the Global Genes Conference in San Diego in September 2022.  Global Genes envisions a globally connected community equipped to eliminate the challenges of rare disease. To create this episode, I provided the storytellers with a framework to support them in telling their stories and in minutes they crafted these powerful and vulnerable stories.  In this episode, you will witness thirteen stories total from moms and dads like you, adults with rare disease, and even a researcher who develops drugs to treat rare diseases.Sit back and enjoy, and notice how you don't feel alone as a parent to a child with disabilities and medical complexities after you listen to these stories.Episodes Mentioned in this Show:Who Am I Now with Rachel Alves Episode 88Having Impermissible Thoughts About Your Special Needs Child Episode 76Other Podcasts mentioned in this show:Once Upon a Gene PodcastParents As Rare with Adam YoungConnect with Kara:IG: https://www.instagram.com/Kararyska/Website: https://www.kararyska.com/Pathway to Peace Coaching Program: Schedule a ConsultWanna be on the show? Contact mePathway to Peace: Schedule a Conversation Request to Join The Special Needs Mom Podcast Community

The rare disease patient advocacy organization Global Genes and the rare disease patient data sharing platform RARE-X have agreed to merge, a move they say will provide next-generation rare disease advocates the tools and resources they need to accelerate their drive for treatments. Charlene Son Rigby, CEO of RARE-X, will become CEO of the combined organization. We spoke to Son Rigby about the merger, the convergence of her personal and professional lives, and how the combination of the two organization will provide next-generation rare disease advocates the tools and resources they need to accelerate their drive for treatments.

Are you thinking about a career in genetic counseling? Maybe you are a current student or even a recent grad… Then you have to head over to our social media for a MAJOR giveaway right now! We have assembled 15 genetic counselors, including myself and some other familiar faces/voices. All 15 of us are going to be mentors for a lucky 15 listeners. That's right you can meet with us for a 1 hour Zoom call for 1:1 mentoring. This is a giveaway so you just go to our Instagram, Facebook, and Twitter, and my LinkedIn to enter for FREE! For 10 extra entries you can leave a rating/review on Spotify or Apple then you email that to info@DNApodcast.com and I will personally give you an extra 10 entries. Shoutout to GC Prep for sponsoring. Use code “DNATODAY” for a discount on their mentor services. (SPONSORED)Our guest this week is fellow genetics podcaster, Effie Parks, to discuss CTNNB1 Syndrome.When she learned that her son, Ford, had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy. Now, she is the host of her own podcast, Once Upon A Gene where she speaks to others about their journey through life with rare disease. Since the launch of the podcast, Once Upon A Gene was awarded “Best In Show Podcast” by WEGO Health. Podcast Magazine recognized Effie as one of the 40 Under 40 Podcasters and she has been nominated for two Champion of Hope awards from Global Genes. Her mission is to learn, lift voices of the community, connect people to resources and to leave this world better than she found it for others in the rare disease world. Our host, Kira Dineen was recently featured on Episode #143 of Once Upon a Gene where genetic counselors shared impactful rare disease stories!On This Episode We Discuss:Effie's son Ford's diagnosis with a rare disorder, CTNNB1 syndromeNavigating a condition that only 50 other people in the world hadHow CTNNB1 Syndrome affects the bodyWhat resources Effie wishes she knew about when Ford was diagnosedAdvice for other parents in the rare disease space who are thinking about having another childFord's feature in Beyond The DiagnosisMeeting other parents and caregivers of people with rare diseasesWhere people can listen to the podcastEffie's son, Ford, was recently cited as the inspiration for a new, accessible and inclusive playground in Washington, you can read the article here! We also wanted to share this awesome graphic that Effie made that includes a detailed list of different things that people can do to support a rare disease family! If Effie's story piqued your interest, check out this blog post entitled “Life Under the Looking Glass” written by Katie Lloyd about her experience battling postpartum depression all while grappling with a diagnosis.To learn more about rare diseases like CTNNB1 Syndrome, visit the National Organization for Rare Disorders, Global Genes, and the EveryLife Foundation. You can follow Effie and Once Upon a Gene on Twitter, LinkedIn, and Instagram!Stay tuned for the next new episode of DNA Today on September 30th, 2022 where we'll be talking to Chris Brandt and Sandesh Patel about Mosaicism! New episodes are released on Fridays. In the meantime, you can binge over 200 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. 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. Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.ord/NewDeal. (SPONSORED)TrakGene has designed a genetics electronic health record. Here's what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today. (SPONSORED)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

Welcome to the podcast! This episode was unplanned originally, but after attending The Global Genes Conference I wanted to share my takeaways with you. The first is the idea of trust. Trust in yourself and your instincts. But also trusting that you're not the only one who can care for your child. The second idea is community. Finding your people has the ability to shift your life in such profound ways. There is also something different about being in a community where everyone has their hard and your story is normal. The third idea is purpose. There is a profound importance in finding your purpose outside of being just a special needs mom. Lastly, I want to share an idea from one of the keynote speakers, an acronym, P.U.S.H.   Push Until Something is Heard.  Don't stop. Don't stop until somebody listens.I hope these takeaways are meaningful and helpful to you and look into the conference for next year! Connect with Kara:IG: https://www.instagram.com/Kararyska/Website: https://www.kararyska.com/NEW Coaching Program: Schedule a ConsultWanna be on the show?Contact mePathway to Peace: Schedule a Conversation Request to Join The Special Needs Mom Podcast Community

Join the Enabled Disabled Community: https://www.enabledchat.com In this episode, we are talking to Daniel DeFabio, who co-founded the Disorder Channel, the Rare Disease Film Festival, and also works as a community manager for Global Genes. Daniel and I discuss his background in designing games, creating media, and how the birth of his son Lucas, who was born with a rare disease called Menkes Disease, helped him and his wife figure out what really matters in their lives. Daniel's empathy, creativity, and openness shine in this episode. It's another terrific example of how the difficulties we experience around disability or disease is a both/and experience, filled with joy, difficulties, and moments that help you understand what gives life meaning and value. You can learn more about Daniel here: https://globalgenes.org/2022/04/22/tell-your-story-daniel-defabiorare-dad-filmmaker-advocate/ --- Send in a voice message: https://anchor.fm/enableddisabled/message Support this podcast: https://anchor.fm/enableddisabled/support

RARE MAMAS RISING- EPISODE 019 A Big Reason to Be Here with FOXG1 Research Foundation Co-Founder, Executive Director, and Rare Mama- Nicole Johnson Nicole Johnson is the co-founder of the FOXG1 Research Foundation and mother to Josie, who has a severe mutation of the FOXG1 gene. The FOXG1 Research Foundation is not only accelerating research to cure FOXG1 Syndrome and brain disorders but also driving change in the rare disease landscape. Bringing more than two decades of experience in media and communications, Nicole currently serves as FOXG1 Research Foundation's Executive Director overseeing every vertical across the organization. In this episode, Nicole's strength of purpose blazes bright, and she speaks with firsthand knowledge about the powerful combination of science and hope. She's a 2022 Global Genes Champion of Hope Award nominee, and she believes we are all here for a really big reason. After listening to this hope-inducing conversation, you're sure to understand why!   EPISODE HIGHLIGHTS The journey to a FOXG1 diagnosis for Nicole's daughter Josie How Nicole co-founded the FOXG1 Research Foundation and the work she's doing as the Executive Director The progress the FOXG1 Research Foundation has made, and its impact on the way natural history studies are conducted Why we are living in a “science renaissance” Nicole's concept of “Happiness Hacks” to keep from living inside the gloom     LINKS & RESOURCES MENTIONED   FOXG1 Research Foundation www.foxg1research.org What is FOXG1 syndrome?  https://foxg1research.org/foxg1syndrome   Nicole Johnson Meet Nicole & Josie: https://youtu.be/NRT7lVuBTJ4 LinkedIn: https://www.linkedin.com/in/nicole-johnson-foxg1/ Email: nicole@foxg1research.org   Global Genes https://globalgenes.org/     CONNECT WITH NIKKI   Facebook https://www.facebook.com/RareMamas1/ Instagram https://www.instagram.com/Rare_Mamas/ Website https://raremamas.com/ Email info@raremamas.com      

PARENTS AS RARE - EPISODE 062 Mary Morlino - Parenting with Sarcoidosis & Discussing the Global Genes 2022 RARE Patient Advocacy Summit Mary Morlino is the Rare Concierge Patient Services Manager at Global Genes. Mary and I will be speaking on a Parenting While Rare panel at the upcoming 2022 RARE Patient Advocacy Summit. The summit is one of the world’s largest gatherings of rare disease patients, caregivers, advocates, healthcare professionals, researchers, partners, and allies. Visit the Global Genes website to get more information about attending in-person in San Diego or virtually, September 12th-14th. EPISODE HIGHLIGHTS Can you tell us about yourself and how rare disease has impacted you? I work at Global Genes and I'm the Co-Founder of MarylandRARE, an organization that serves the rare disease community in the state of Maryland. I have two young adult daughters. When they were 7 and 9 years old, I was visiting my sister in California when I collapsed for an unknown reason. I spent a week in the hospital undergoing various testing and was released without any answers, only confirmation that something was wrong with my heart. I flew home and a day later I was hospitalized again, underwent additional testing and had a pacemaker put in. Several years later, my health started to decline rapidly and I had to wear an external defibrillator vest while I consulted with heart transplant doctors. A final test was a biopsy that revealed I had Sarcoidosis, an inflammatory disease where groups of cells create granulomas which inhibit blood flow and function. What were the conversations like with your daughters about your diagnosis? It was difficult because I was in the hospital, there was no hiding it, and my children were old enough to Google whatever they wanted about the disease. We had a series of conversations, giving them information and leaving the door open for future conversations or questions. Even as adults, we still talk, but they monitor me and concern themselves with how I'm doing and I wish they didn't have to feel that way. What advice do you have for navigating work, advocacy, parenting and disease? I've had to shift to a less physical life and find a balance of personal growth and personal contribution to help me feel valued. This is why I got into advocacy- it fed me energy, allowed me to contribute and helped me to feel positive about my value in the world. I disregarded and eliminated anything in my life that didn't need focus and energy. My best tips are to schedule rest, eat healthy, have compassion for your body and balance your priorities. If you can, find something valuable to you and focus on it. LINKS & RESOURCES MENTIONED Global Genes https://globalgenes.org/ MarylandRARE https://marylandrare.org/ 2022 RARE Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ Foundation For Sarcoidosis Research

Brad Margus is co-founder and Executive Chairman of Cerevance, a drug discovery company advancing a robust pipeline of targeted treatments for patients with neurodegenerative diseases, including Parkinson's disease and Alzheimer's disease. The company's lead program, CVN424, has recently shown significant and clinically meaningful efficacy and safety in a 135-patient, phase 2 clinical study for Parkinson's Disease. Investors include Takeda Pharmaceuticals, Google Ventures, Bill Gates, Casdin Capital, Lightstone Ventures, Foresite Capital, UPMC Enterprises, Dolby Ventures and the Dementia Discovery Fund. In 2013, Margus started Genome Bridge, a non-profit subsidiary of the Broad Institute of Harvard and M.I.T., to build a computational platform for sharing genomic data. From 2009 to 2012, as co-founder and CEO of Envoy Therapeutics, Margus led the discovery of therapeutics for brain diseases and then sold the company to Takeda Pharmaceuticals. From 2000 to 2007, Margus was co-founder and CEO of Perlegen Sciences, a leader in analyzing genetic variation. Concurrent with his business career, for the last 25+ years, Margus has worked as a volunteer in founding and leading the A-T Children's Project, a non-profit that orchestrates and funds research on a rare disease - ataxia telangiectasia or "A-T" - that two of his sons have. A-T causes progressive loss of muscle control, cancer and immune system problems. One supported project involves testing an antisense oligonucleotide gene therapy approach for A-T. Margus currently serves on the Boards of Arvinas (Nasdaq: ARVN), a protein degradation company; Presage Bio, an oncology company; and Neurona, a cell therapy company. He also serves as Co-chair of the Network for Excellence in Neuroscience Clinical Trials External Oversight Board at the Nat'l. Institutes of Health. Margus previously served on the Advisory Council to the National Inst. of Neurological Disorders and Stroke; the Secretary of HHS's Advisory Committee on Genetics, Health and Society; the Board of the Genetic Alliance, representing hundreds of genetic disease advocacy organizations; the Nat'l. Center for Advancing Translational Sciences Advisory Council at the NIH, the Cure Acceleration Network Review Board; as a Harvard Business School Global Advisor, as an advisor to Counsyl (acquired by Myriad Genetics); on the Board of Children's Neurobiological Solutions; the Board of Cellular Research, a molecular biology tool company (acquired by Becton Dickinson); the Board of Second Genome, a microbiome company; the Board of Global Genes, a non-profit supporting all rare diseases; and on the Stanford University School of Medicine's Stem Cell Research Oversight Committee. Margus holds an MBA from Harvard.

For people with common health problems like diabetes or high blood pressure or high cholesterol, progress in pharmaceuticals has worked wonders and extended lifespans enormously. But there's another category of people who tend to get overlooked by the drug industry: patients with rare genetic disorders that affect only one in a thousand or one in two thousand people. If you add up all the different rare genetic disorders known to medicine, it's a very large number; Harry's guest this week, Charlene Son Rigby, says there may be as many as 10,000 separate genetic disorders affecting as many as 30 million people in the United States and 350 million people worldwide. That's a lot of people who are being underserved by the medical establishment.Rigby is the head of a new non-profit organization called Rare-X that's trying to tackle a systematic problem that affects everyone with a rare disease: Data. In the rare disease world, Rigby says, data collection is so inconsistent that each effort to understand and treat a specific disease feels like reinventing the wheel. For longtime listeners of the show, that's a familiar story. Time and again, Harry has talked with people who point out the harms of storing patient data in separate formats in separate silos, and who have new ideas for ways to break down the walls between these silos. Rare-X is trying to do exactly that for the rare disease world, by building what Rigby calls a federated, cloud-based, cross-disorder data sharing platform. The basic idea is to take the burden of data management off of rare disease patients and their families and create a single central repository that can help accelerate drug development.Harry talked with Rigby about the challenges involved in that work, how it gets funded, how soon it might start to benefit patients, and what it might mean in a near-future world where every child's genome is screened at birth for potential mutations that could lead to the discovery of rare medical disorders.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.For people with common health problems like diabetes or high blood pressure or high cholesterol, pharmaceuticals has worked wonders and extended lifespans enormously.But there's another category of people who tend to get overlooked by the drug industry.And that's patients with rare genetic disorders.By definition, rare diseases are rare, meaning they might only affect one in a thousand or one in two thousand people. But here's the thing. If you add up all the different rare genetic disorders known to medicine, it's a very large number.My guest today, Charlene Son Rigby, says there may be as many as 10,000 separate disorders affecting small populations.And if you count everyone who has these conditions, it may add up to as many as 30 million people in the United States and 350 million people worldwide.That's a lot of people who are being underserved by the medical establishment.And Rigby is the head of a new non-profit organization called Rare-X that's trying to fix that.Now, there are a lot of rare disease organizations that are looking for a cure for a specific condition.Rigby actually came to Rare-X from one of those, the STXBP1 Foundation, which is searching for a treatment for a rare neurological condition that affects Rigby's own daughter Juno.But Rare-X is a little different. It's trying to tackle a systematic problem that affects everyone with a rare disease. The problem is data.Rigby says that in the rare disease world, data collection is so inconsistent that each effort to understand and treat a specific disease feels like reinventing the wheel. For longtime listeners, that'll be a very familiar story.Time and again I've talked with people who point out the harms of storing patient data in separate formats in separate silos, and who have new ideas for ways to break down the walls between these silos. Rare-X is trying to do exactly that for the rare disease world, by building what Rigby calls a federated, cloud-based, cross-disorder data sharing platform.The basic idea is to take the burden of data management off of rare disease patients and their families and create a single central repository that can help accelerate drug development.I talked with Rigby about the challenges involved in that work, how it gets funded, how soon it might start to benefit patients, and what it might mean in a near-future world where every child's genome is screened at birth for potential mutations that could lead to the discovery of rare medical disorders.Here's our full conversation.Harry Glorikian: Charlene, welcome to the show.Charlene Son Rigby: Thanks. Nice to be here, Harry.Harry Glorikian: So I've been reading about what you guys are doing. I mean, all of it sounds super exciting. I'm, you know, been looking into this space for a long time from a rare disease, but many different angles of it. But can you just start off, tell us a little bit about yourself and how you got active in this world of rare disease research?Charlene Son Rigby: Yeah, thanks for that question. So I've spent most of my career building scalable software solutions for analyzing big data, and that's been both in health care as well as enterprise software. And so I'm now the CEO at Rare-X where we're building a platform to analyze rare disease data cross-disorder. And prior to being at Rare-X, I was the chief business officer at a company called Fabric Genomics, where we developed artificial intelligence approaches to speed diagnosis of patients through genomics. We had a considerable focus on rare disease and contributed to projects like the 100,000 Genomes Project and also the work that Stephen Kingsmore is doing at Rady Children's with diagnosing critically ill newborns in the NICU. And so when I started at Fabric, my daughter Juno was ten weeks old. She's my second child. And it was kind of a fortuitous timing, in some ways kismet, because at when I started at Fabric, I didn't know that she was going to start experiencing issues with her development. But at around four months she started missing milestones. And that started us on a three and a half year journey to find an answer to what was going on with her. And so during that time, we went through many, many tests, including genetic tests, MRIs, all kinds of all kinds of things, and everything kept coming back as negative or inconclusive. And so I was working at a genomics company, and so I kept pushing for whole exome testing, which at that time was still not, not readily available clinically and by insurance was still considered experimental. So we were denied three times, until we finally were able to get authorization in 2015. And so in early 2016, we got my daughter's diagnosis and she has a mutation in a gene that's involved in communication between neurons and the genes called STXBP1.Charlene Son Rigby: And so it's very rare. Thirteen kids born a day somewhere in the world. So thinking about Juno and thinking about this from a science standpoint, that it was pretty interesting that when she was diagnosed because she didn't have a classic phenotype for STXBP1. So most kids, 90% of the kids have seizures. And she has more of the symptoms around developmental delay, low muscle tone, cognitive issues and delayed walking and motor issues. And, you know, this this kind of challenge around these atypical phenotypes, I think, is actually becoming much more common in disease generally, so in rare disease and also more broadly in more common conditions as we're really starting to understand kind of the true breadth of patients. So in terms of your original question about my journey through rare disease, so I went on to co-found the STXBP1 Foundation to accelerate the development of therapies for kids like my daughter. And then coming to Rare-X was really a kind of joining of my software background with my passion for rare disease and really wanting to do something more broadly for the rare disease community.Harry Glorikian: I have to tell you, like what you said, three and a half years, I'm like, oh, my God. Like, I would be I have so many stories. And like when I was at Applied Biosystems and, you know, we're doing all this work. It just boggles the mind that some of these things are not really readily available to help get over that diagnostic odyssey for especially parents, because you're going to do anything to help your child. I'm glad it's actually moving theoretically faster these days. I'm not sure if insurance has actually kept up, but we're, on the technology side, I know we're everybody's pushing the envelope now. But when we talk about rare disease and you did some of the numbers but we hear about these rare diseases, I think a lot of people think of like there's an n of 1, right? They assume that this disease only affects a tiny number of people. Right. Maybe just one or a handful worldwide. But I mean, the fact is, if you add up all these different rare genetic diseases that exist in the human population, the number of people is actually pretty big. I mean, can you sort of. Put that into some sort of scale for us in what you've seen.Charlene Son Rigby: Yeah, you're absolutely right. You know, rare disease is by definition rare. And so it's easy in some ways to be dismissive of a rare disease because, oh, it's only affecting a few people. And it's true that a single rare disease can affect a very small number of people, even down to the n of 1 case that you talked about. From a definition standpoint, so, in the US, rare disease is defined as a disease affecting fewer than 200,000 Americans. And in Europe, in the EU, it's defined as affecting no more than one in 2,000 people. So we even though for ultra rare or n of 1 diseases, we can be talking about a small number of people, or like in my daughter's disorder, we can be talking about low thousands, there are still thousands of rare diseases and the traditional number that we hear a lot is 7,000. So 7,000 rare diseases. Rare-X is about to come out with some research that indicates that there are over 10,000 individual rare diseases, and this is really due to our growing understanding of genetics. So previously we might have grouped together a set of disorders based on what the symptoms were like. But now we understand that those actually are due to a different genetic etiology or different cause at a genetic level. And so if you aggregate all of those people up, across those 10,000 rare diseases, you know, what we're looking at is one in ten, potentially one in ten people in the world. And so in the US that's about 30 million people and in total 350 million people worldwide. So it's really a huge number of people. And from an impact standpoint, it's staggering when you look at the impact from a health care standpoint and from an economic standpoint.Harry Glorikian: Yeah, I mean, if you can diagnose, I mean, if there is a way to treat someone, then you get to it faster. And the economic impact is huge and unfortunately, if there isn't, maybe it spurs a pharmaceutical company to, you know, start working on it or figure out a way to treat that patient better. But at least you, I always tell people, the better the diagnosis, the better the next step. I see people sometimes, it seems like they're throwing a dart, you know, and they're it's an educated guess, but it's not, you know, the accurate diagnosis that you'd like to have. So. But how and where, when was sort of Rare-X born and what are you trying to do with the organization? What do you want to fix?Charlene Son Rigby: Yeah. So Rare-X was a pandemic baby. The organization was started in early 2020 and I just joined the organization last year. But, you know, it's really been quite a journey being able to have the, launch the platform during COVID. And I know we can talk about that in a little bit, but the unsolved problem that we are working to address is really around collecting data for rare disease. And one might ask, well, why is this an issue? I'll give an example. From the early days of the STXBP1 Foundation. W e assembled our scientific advisory board and we got together for our first scientific meeting. And we were going to develop our roadmap so that that would guide our priorities in terms of scientific development. And we were all very focused on therapies. So my expectation going into the meeting was we were going to talk about all the mice models we were going to build. What did we need to do in the lab? How are we going to get to that first therapeutic candidate? And the number one priority that came out of that meeting was to build a prospective regulatory-compliant natural history study. And so it was a huge learning for me because if you look at the kind of canonical steps in terms of drug development, it's always preclinical and then you move into clinical. And what I think that kind of simple model misses is this foundational layer around the data that you need and the real kind of understanding of the symptoms and the disease progression that is critical to building effective therapies, developing effective therapies.Charlene Son Rigby: And so that's really what Rare-X was started to do, was to enable the gathering of this data, the structuring of this data and enable it to be shared and to do this at scale. So, cross-disorder. And there are several problems today that that make this challenging. And so maybe I can talk a little bit about that. There are three or four of these significant challenges. So today some of this data does exist, but it's often kind of trapped in data silos. So it was generated in an individual project that might have happened in academia or industry. And then the data is often really only accessible to the group that collected it. And in rare disease where we don't have that many patients, it really makes it challenging to create a kind of more comprehensive understanding and picture of the patients if that data is trapped in these individual silos. Charlene Son Rigby: Another challenge that that we've seen is the lack of usable data. So individual studies may not include the key data that's needed to drive drug development forward. So some of these data repositories, they might either be a symptom specific. So they're looking at a specific organ system that might have been of interest to that researcher. So they're an incomplete picture. Or some of these repositories or these registries were started by passionate parents. You talked about that, the urgency that one feels as a parent, that I feel as a parent. And the registry may have been structured or the questions may have been structured in a way that isn't necessarily immediately usable by researchers because of the fact that it was started by a parent who, like you, you might not have had a statistical analysis background, you might not have had a survey methodology background. And we so those can be challenges in terms of having the data be robust and usable later. Charlene Son Rigby: And then the other thing that can be challenging and probably is often the most challenging is, is especially in these very, very new diseases, there's no data, and it takes quite a bit of funding to start data collection. Often, often passionate parents are going around trying to get researchers interested in their disorder. But it's often that you have to have a little bit of data to get a researcher interested. And so this is a huge challenge in terms of implementing data collection. And the other thing that kind of underlies this is that patients often are not empowered in this process. And so that was a fundamental piece of the way that we've structured Rare-X and the way that we collect data and the way that we enable patients to participate in the process to power data collection.Harry Glorikian: Yeah. I mean, it's, you know, they make movies out of this, right? People trying to push this boulder up a hill. So, what are the new ideas that say Rare-X is bringing to the table? I mean, your organization has called for like, you know, the largest data collection and federated data system and analysis platform in rare disease. So, I think unpacking that statement because it's a big statement, right, of, you know, what are you doing to improve data collection? What do you mean by federated, for those people that are listening? And why is it important? A  nd how will the platform enable better analysis of this rare disease data?Charlene Son Rigby: Yeah. Great question. From a design perspective, the one of the things that we wanted to do was make sure that the platform was cross-disorder. So a lot of registries are started for an individual disorder. And what we really wanted to be able to do was given that number of 10,000 diseases, how do we scale to support so many disorders to accelerate therapies? And so a fundamental design principle was to do that cross- disorder. The other piece of this is that we are focused on patient-reported data. So typically a participant will join the research program, create an account on the platform and they are either a patient or a caregiver of a patient and providing information on their symptoms. There is a lot of other data out there in the ecosystem that could come from other related registries, or it could come from clinical data, it could come from many different types of studies. And so we really want to enable the aggregation of or federation of that data. So you asked me to define that term. It really means bringing together multiple different data sets in a way that enables those data sets to be analyzed together. And I think, again, going back to this theme that for any individual rare disorder, there aren't that many patients. And so analyzing that data, kind of individually, we are really missing the opportunity to maximally use the data that's been contributed by rare disease patients. And I would even argue that it's a moral imperative for us to do that as a rare disease community, because we urgently need to move these understanding of these disorders forward in development of therapies as well.Harry Glorikian: I almost wish I could take all the companies I know doing this and put them there so the n goes up for everybody. But I know that there's all sorts of reasons that that doesn't happen. But, you know, when you were saying we're pulling in patient-reported data, you know, the first thing, and we talk a lot about this from different groups on the show is, you know, would a wearable or one of these other devices that are now available give you more granular, real- time information that might be valuable to this sort of study. And have you guys considered things like that?Charlene Son Rigby: T he short answer is yes, because the our desire is to really continue to expand the types of data that are collected. And the I think that the nice thing about mobile, mobile devices, wearables, is that it makes it very easy to collect that data. And so we have a partnership with Huma. They do work in the mobile space. And we're definitely continuing to evaluate where we can develop partnerships there. I mean, our goal overall is to de- burden patients and so that the, if we can do that in a way that additive to an overall body of research, then we're huge proponents of it. And I think that it's also important that we're really trying to create an open system. So our partnership model is a very, very open partnership model in terms of who we can work with.Harry Glorikian: Yeah, I had a really extensive conversation with the head of data sciences at WHOOP yesterday and you know, they're pulling in somewhere between 50 and 100 megabytes of data per patient per day. I shouldn't say patient -- per individual per day. Right. I was like, that's a lot of data. And she was, you know, the kid in a candy store because they're she's like, we can really see what's happening with people. And you can ask questions at a scale that you couldn't ask before. Like she was saying, you know, the last one of the things that we're working on publishing is 300,000 people. You couldn't imagine that in the world of, say, a clinical trial of 300,000 people are just going to, you know, and you have all the data, almost 24/7 on this person that's delivered by this device, which is sort of interesting, you know, place to be. So, you know, I know that you don't have 300,000 people in one in one area, but it'd be interesting to have that sort of 24/7 data available from these kids if you could, you know, get a device that would lend itself to that. But what stage is the company at in building the platform and you know, I guess the killer question is, when will drug developers or other researchers be able to start using it? If they already are, do you have any early success stories you can share?Charlene Son Rigby: Yeah, yeah. It's really a very exciting time at Rare-X. So the platform launched last summer and we have over 25 communities on the platform. And those encompass several hundred participants already. So we're really starting to see some exciting numbers in terms of in terms of participants. So we are launching our researcher portal at the end of Q2. So very soon. And at that point, any researcher, so academic researchers, pharma researchers, will be able to access the data and be able to utilize analytical tools to really interrogate the data. I'm excited that we also have launched our first sponsored program, and that's with Travere. They're supporting the homocystinuria community to start data collection, to start a registry. And we just launched that at the end of February.Harry Glorikian: So I want to. Jump back, like just talking through some of the biggest technical challenges along the way. I mean I know one of your goals is like interconnecting all these disparate data sources. But one of the issues that always comes up is how do you clean up that that existing data so that you can store it all the same way. And then obviously that enables somebody to then do the analytics right after that. But the biggest issue that I hear from a lot of people is, man, it takes a lot of effort to make sure that that data is cleaned up and put in the right place.Charlene Son Rigby: Yes, the data munging. Yeah. I mean, I think that that is really the, a significant challenge, because creating research-ready data and then harmonizing data sets is a huge amount of upfront work that has to happen before you can actually do any of the analysis and the data mining. So what we have done with the core data that's being generated within Rare-X is that we have mapped it to data standards. So we utilize standards like the human phenotype ontology, OMIM, HL7, so that the data that we're producing already is mapped to all of these generally utilized standards. And then we would if we were working on a federation project, the same thing would need to happen with these other data sets to really enable that type of integrated that type of integrated analysis. And you're right, it's it can be a very brute force effort in terms of doing it accurately. And that's why I think that it's really important from a from an industry perspective to really start adopting these standards and putting them into the base model, you know, for assuming just making the assumption up front that the data is going to be federated and utilized downstream. I think that kind of traditional studies, a lot of the scope was more really looked at in terms of what are we doing with the data today? And we need to be really thinking about from a lifetime perspective, how is this data going to be used?[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: Now if we go one step before like getting that data, I mean. I have to imagine there's a huge political, bureaucratic or organizational challenge when it comes to who controls that data. And I think I have to assume,  part of your job is convincing them to share it, right, despite its potential as intellectual property. Right. So how do you get on the phone and say, “Why don't you press send and shoot that over to me and so that we can take the next steps with it?”Charlene Son Rigby: Yeah, well, this is a really significant challenge, and I think that we're in a time of change in terms of attitudes around this. And part of it is what's been happening in terms of national programs to collect data. And people are starting to see the benefit of being able to share and really utilize these larger data sets. But the reality today is that in terms of the status quo, researchers control the data, and that's because the data was generated in a specific project that might have happened in academia or in industry. And there's a challenge with alignment of incentives. So on the academic side, I think that if one were to ask a researcher, do they want to hoard data, they don't want to hoard data. But the reality is, is that we still have this challenge with academic tenure and needing to publish or perish in that environment. And so researchers are still rightly concerned because of that paradigm that they have to write their paper and get their paper in before they can feel comfortable with allowing others to access the data. And so something really needs to happen there to that incentive system. Charlene Son Rigby: And in pharma, interestingly, I think that that's also an area where there has been a feeling that data is almost akin to intellectual property. But I think that especially in rare disease, there has been a growing understanding that accessing natural history data is not going to, at the end of the day, enable pharma to win because they're going to win on the quality of their therapeutic pipeline and how quickly they can get those therapies through to a successful market approval. And so what we've been really working to do is position natural history data as pre-competitive and for rare disease, frankly, it's too expensive to build these data sets, you know, alone. They're, as we scale to all of these disorders it's going to become untenable to for each company to build their own data set. The thing that we need to do and what Rare-X has been working to do with our collaborators is to transform the way that research has been done and initiated and break down these barriers and just show that the model of building these pre-competitive collaborations can work, both from a how does the business model work and then how is the data shared? And so I think that Rare-X being a nonprofit and a kind of neutral third party is really additive in terms of building those relationships so that this, this kind of public-private partnership model can really serve as a way to drive this type of change.Harry Glorikian: Now. Okay. So we've talked about industry sharing data, but I always I mean, especially in the last maybe 5 to 10 years, I keep thinking about, you know, how much of this comes directly or will come directly from patients, right? If they have control or access to their data, they have the ability, theoretically, the ability to then share that data. Right. And it could be just for the research in general as opposed to, not specifically to find a cure for a specific disease. So how do you get that data or convince patients to share it?Charlene Son Rigby: Yeah, well, I think that in in rare disease patients are typically highly motivated. You know, there are many rare diseases that can be pretty devastating in terms of the symptoms and the disease progression. And so overall, there is a a good portion of the rare disease population that is motivated to provide their data. And so what we do there and I think that that your points about the paradigms and thinking about it, that the patients are sharing their data, is really important. Because I think that that gets lost a lot. You know, a patient, and we've all signed up for some research study in our lives. You go and you fill out a survey or you contribute a blood sample or something, but oftentimes the patient contributions get forgotten because it becomes part of the researcher's data set. And so the what we're really trying to do is turn around that kind of paradigm with a core principle that patients are the ones who own their data and they're contributing their data. And so we enable them to, through an innovative consent process, we enable them to basically say that, yes, they're willing to share their data for these types of projects, and they can change that at any time. And we really feel that that changes the paradigm and allows them to have a real seat at the table. And then I wanted to also talk about, because obviously not everyone is — there is this proportion of folks who are motivated and trust and that's part of the reason that they will be willing to share their data — but there is also a portion of the population that might not be as motivated. And so it's important for us to be able to reach those populations and to build trust in the approach that we're taking and the value of it in terms of really being able to drive research. And so patient education is an important component of our model patient education, patient engagement. So we work directly with patient advocacy organizations and patient advocates to educate their communities on the value of data collection, how it really spurs and supports research. I think that that's a critical component to this as well.Harry Glorikian: Well, hopefully people will listen to this podcast worldwide and me that may spur someone to search you guys up on the web. But I noticed that another principle of the company is you don't sell patient data, right? Does that mean you're giving it away? And if that is true, what's the criteria of doing that? And do your data partners that you're giving it to have to meet certain standards?Charlene Son Rigby: Yeah, this is a great question because monetization models around data are very, very common today. Some companies have built significant valuations around data monetization. And for from a Rare-X standpoint, and this is part of the reason why we were started, is that the question was asked like, is that the right thing to do, especially for diseases where we're in the very early stages of understanding a disorder, and so I talked about this a little bit earlier, that if you have no data, getting any researcher interested is already then a huge challenge. And so we're here really to break down barriers to advancing rare disease research and encourage that research. And so I say sometimes that it's really important that we free the data. So we don't sell data at Rare-X. And we have an open access model for researchers to access the data. Charlene Son Rigby: And so there it is not, “we open the doors and anybody can come, come and access the data.” It's done in a responsible way. So one of the key things is that the data is de-identified. And so it is it is critical to do that, because we want the data to be utilized for research. It doesn't need to have identifiable information in it to drive that research forward. You know, the second thing is, is that researchers need to submit information on their project, and then that's reviewed by a data access committee. And the idea behind this data access committee is not to slow down things. It's a streamlined and efficient process. But the idea is that there is a review process. The researchers need to specify whether there's an IRB with whether that protocol has gone through an institutional review board review, and patients can opt to only have their data. As an example, patients can opt to only have their data shared with projects that have gone through IRB review. So there's really kind of a, since this is in many ways a two sided platform, there's really a way that patients can actively engage in terms of who's accessing their data. And then the researchers also in terms of the types of projects that they're that they're going to put forward.Harry Glorikian: Okay. So now you're giving away the data. Remember, I'm a venture capitalist, so you're giving away the data, right? First question somebody like me asks is, how do you pay for the operations? I mean, you're building this fairly sophisticated system that is, you know, you've got to clean the data, you've got to make it available. You're trying to talk to all these people. I mean, are you funded by let's say, I mean the typical stuff, grants? Is it member donations? Is it major gifts from individuals? You know, those are all the questions that that would cross my mind.Charlene Son Rigby: Yeah, absolutely. So frankly, it took me some time to get my arms around this, because my whole career has been in tech and venture backed companies. And so so I took some time to really think about this and think about this scalable model from a scalability standpoint before joining. So we get our funding largely through pharma and industry, as well as some grants. And the way that that funding happens is, it's basically platform investment. And I think that this is a really key thing from my perspective of, of thinking about the, the platform as something that is, if you will, a social good. Because they're investing in expanding the platform. They might invest, like Travere did, additionally to help to onboard specific groups or expand our capabilities in terms of being able to gather data in a particular disease area. But the funding that they're providing is to make the platform and the research program more robust. The data at the back end will be open in the way that we've we have talked about it. We have a unique ability to do that and create that kind of model as a nonprofit. And you're right that what we're doing, we're kind of blending this health tech company with this this nonprofit  tmodel. But I think that there are some good examples out there of public private partnerships that have been very successful in the long term in doing this. And that's the model that we're really pursuing.Harry Glorikian: This area is small. I feel like I've been in and around it for a long time because of, you know, being in and around genomics. But there's a small but sort of growing infrastructure of support for rare disease, you know, patients in the world, sort of nonprofits, NGOs, patient advocacy group. Tthere's Global Genes, right? There's the Rare and Undiagnosed Network, RUN. There's the Undiagnosed Disease Network Foundation, and then there's the n-Lorem Foundation. And so many others that I don't want to leave out, right, the long list. But how does your, or, does your group overlap with these? I mean, I was reading a press release that this summer you guys will launch a collaboration with RUN and the Undiagnosed Disease Network Foundation to launch something called the Undiagnosed Data Collection Program. I mean, if you could sort of talk about what that project is about. Is your real ambition to be the data infrastructure sharing platform for the entire community of rare disease patients and families?Charlene Son Rigby: Yeah, well, I love that you call it infrastructure because I think this is critical from a concept standpoint. Rare disease should not be a model where each rare disease is doing it on its own. That was one thing that really struck me, thinking again about my daughter's disorder, where we were looking at ways to ladder up to that prospective natural history study. And we were trying to do something. I talked to a few other genetic neurodevelopmental conditions that were kind of our cohort, if you will, and we were all doing it in different ways. And it's such an opportunity cost to be figuring out the model new each time. And so these groups like Global Genes, amazing organization, actually, the Rare-X founder, Nicole Boyce, was also the founder of Global Genes. And we were, the STXBP1 Foundation used every single resource possible that came out of Global Genes. You know, that there's this broad this really broad education and enablement that needs to happen for people who want to become rare disease advocates. And that Global Genes has really done that in a tremendous way for so many organizations and so many individuals. And so we partner with them in terms of, and are very complementary, in terms of providing that infrastructure where Rare-X is focused on this area of how do you accelerate research through data collection, and then we use that.Charlene Son Rigby: It's great that you saw the announcement on the work that we're doing with RUN and the UDNF. I'm particularly excited about this because Rare-X, we talked earlier about ultra rare diseases, about n of 1 diseases. The reason why Rare-X is able to collect data across all of these disorders is that we have a fundamental assumption in the way that we collect data, which is that we don't assume that anybody does or does not have any symptoms. So we start out with a very high level, head to toe type of set of questions that if you say yes to any of them, it leads into a more detailed set of questions to collect data on particular symptoms. And so this is really ideally suited to situations where there isn't a lot of characterization around or understanding of the symptoms in a disorder and where you don't have a diagnosis. Because then what we're really enabling an individual to do is to gather robust data about their individual symptoms and disease progression that then can be utilized for research. And so we're very excited about being able to work with and support RUN and UDNF in in that effort. Charlene Son Rigby: And so do we have, you asked about ambition? You know, do we have a goal of being the only data sharing platform? I would say that our goal is to be an incredibly robust comprehensive cross- disorder platform. We believe that the way that we are approaching things really is enabling us to support all rare diseases. And we're really focused on de- burdening patients. So we're enabling patient communities to get started very quickly. And they don't have to become experts in protocol development, they don't have to become experts in creating clinical outcome assessments, etc. At the same time, the world is large and that they're going to be groups who decide that they need specific solutions. They may want to take on the role of being a principal investigator, as an example. And so I think that that's also the reason why federation is an important component of what we're really bringing forward as a as a way to bring all of that data together.Harry Glorikian: So again, you know, being on the venture side, right. You can lead a horse to water, but you can't make them drink, right? So you can do a lot. You can improve clinical trial readiness. You can make sure the data is better about rare disease patients, and that it's available. But you can't force the drug discovery companies or the drug makers to sort of develop a cure for a specific disease. Right. How do you think about that as part of a rare disease problem? Is that is that part of the work that Rare-X is,are you making it less risky so that they are willing to take that next leap?Charlene Son Rigby: You're right that pharma is going to be making, I would say, rational business decisions based on commercial drivers. And the challenge with a lot of rare diseases is that no one knows about that individual rare disease, and there isn't much data on it. And so anything that can be done to de-risk that process for a pharma company  is huge in terms of increasing their interest or generating interest for them and then increasing their interest. And those things can include knowing that there's an activated community, you know, because if you have a clinical trial and nobody wants to participate in the clinical trial, that's going to be a huge problem in terms of being able to get that drug through an approval process. And so Rare-X, by building a very robust data set, is able to de-risk that process in terms of that investment, of trying to understand what the disorder is and also trying rto understand disease progression. And going back to that point about activation of the community, we're also able to help to demonstrate the activation of the community because of the number of people participating in the in the data collection.Harry Glorikian: I know it's not science fiction. I think it's right around the corner, hopefully, but I think, isn't an ideal future where we do either whole-exome or preferably whole genome on every newborn and scan for these genetic changes that are associated with rare diseases. I mean, I'm assuming that would really push this area much farther along. And if that is true, if that statement is true, how long do you think it'll take for us to get there?Charlene Son Rigby: Wow. You're reminding me of the Gattaca movie, but hopefully that's not the real future for us, you know. Winding things back. So my daughter was born, my daughter Juno was born in 2013. So that's nine years ago. And it took three years for us to get a diagnosis. And, you know, that's like an entire other podcast. But I think that the really, if we fast forward to 2022, we have groups like Stephen Kingsmore's group at Rady Children's where they're diagnosing newborns who are in the NICU, in less than 24 hours. And even standard exome testing, which it took us three months to get our results, the standard exome testing results are now returned in less than two weeks. You can also get it faster if you have an urgent testing and we have the tech. Illumina has long been dominant and continues to be dominant in the clinical area. But you have these new entrants with Oxford Nanopore, Element, Singular, and there are others that are entering now. And so these costs are coming down and this is really going to be a transformative in terms of becoming, I do think that this is going to become standard of care and it's closer than we think. I think that it's probably going to be in the next ten years, less than ten years.Charlene Son Rigby: We already have some analogs to this in terms of or precursors, I should say, in terms of newborn screening. And so what I think is going to happen is that genomic sequencing is is going to become a core newborn screening tool. And the interesting thing is that there are applications, not just in rare disease, but also in common conditions and the value of genomic sequencing. So today, 5% of rare diseases have a therapy, but there are right now hundreds of gene therapies that are currently in preclinical and clinical pipeline. So this picture is going to change enormously in the next five years. And so because the value of is going to grow, because there are therapies, the other important thing is therapeutic windows. So therapeutic windows are when we can intervene to have the most impact on a disorder. And so that's often when someone's young before the symptoms present or start or very early in that process. And so I think that this is going to become a reality in the next decade. And frankly, I think it's a very exciting time. I have always been a big believer that knowledge is power. And this is this is one of those great situations where we have the ability to do something because we know.Harry Glorikian: Yeah, I talk about some of this in my book and there's some, you know, interesting stories and it's a fascinating time. And when I think back, you know, to when we first started sequencing and people would say, why would you want to sequence anything? And now it's the complete opposite. And the price is coming down. It's becoming easier and faster. And I mean, at some point, I think the price is going to be low enough between the actual sequencing and then the analysis, that as my friend says, it's going to be a nothingburger. I mean, it's just going to be like, yeah, we should just do that because it gives us the information we need for the next step, which is sort of going to be interesting.Charlene Son Rigby: Yeah, absolutely. I think that the that is the challenges that I talked about, cost of sequencing. But you're right that, you know, the analysis is still quite expensive today. And that's something that we're also going to need to need to improve. I mean, AI and the growing knowledge bases is really going to help to address that. Yeah. And but that's a huge component of it as well today. Absolutely.Harry Glorikian: Yeah. I'm looking at a company that in this particular area of oncology, they've gotten the whole genome analytics down to about $60. So it's, you know, it's coming to a point where you're like, why wouldn't you do that? Like, what's stopping you from doing that? So it's been great having you. Great conversation. I wish you guys incredible success. A nd I'd love to keep up on how things are going with the organization.Charlene Son Rigby: That'd be great, Harry. Really enjoyed it today. Thanks.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.

Intro music by Scott Holmes

Welcome to our first podcast!  Ignore the sound issues...we can only go up from here!  But it will be hard to beat my first guest, Cynthia Lang.  Cynthia is a mom to a son that was recently diagnosed with Skraban-Deardorff and we had a great conversation about what the diagnoses has meant for her family and how it has set her on a path to find a treatment for this rare disease.  She has partnered with a company called Rarebase (rarebase.org) that is leveraging cutting edge technology to potentially help all the kids diagnosed with Skraban-Deardorff Syndrome.  If you are interested in participating in the Rarebase research, please visit their website or reach out to me at SmilesIncludedPodcast@gmail.com and I can share a document from Cynthia.Other allies in the genetic research fight mentioned in this podcast are:National Organization for Rare Disorders (rarediseases.org)Global Genes (globalgenes.org)

At the age of 12 months, Daniel DeFabio's first child Lucas was diagnosed with a rare disease called Menkes Syndrome. After adjusting his expectations of what raising a child might look like Daniel began to tell Lucas' story with a short documentary. That film led Daniel to co-found DISORDER: The Rare Disease Film Festival and later The Disorder Channel, both which are dedicated to spreading awareness for patient families facing any of the more than 7,000 rare diseases.One of Daniel's stories about Lucas won the 2015 Rare Patient Story Award from Global Genes. His award winning 12 minute documentary on Menkes Syndrome is narrated by Oscar nominee Mary McDonnell. In 2008 he founded that Ballston Spa Film Festival. He was a pioneer of original content online (now called web series) and co-wrote and co-produced the internet's first animated series.He has created videos and marketing materials for American Cinematographer, PBS, RightRace, bio-techs. Hospitals, most major movie studios, TNT's “The Closer” and HBOs “Curb Your Enthusiasm”, among others. Daniel currently works as Global Gene's Director of Community Engagement. Daniel is here to today to share his powerful personal story.The Disorder ChannelDISORDER: The Rare Disease Film FestivalFollow @disorderrarediseasefilms on Instagram!

When you hear someone share their hard circumstances, do you know how to offer empathy? Would you say you know how to put yourself in someone else's shoes and really enter into the pain with them? I am so excited to talk about this today on the podcast with Amanda Shanks. She is the mother of Taylor, and her daughter has a rare diagnosis called Pura Syndrome. I love that Amanda and I are having this conversation because I think sometimes when we don't know what to say, we think it is better to say nothing. So, Amanda is going to talk to us about what is looks like to offer empathy without pity as well as what does it look like to enter into someone else's hard circumstances and put yourself in their shoes. So, Amanda is going to talk to us about what it looks like to offer empathy without pity as well as what it looks like to enter into someone else's hard circumstances and put yourself in their shoes. She is going to help us with that language, and I know you are going to learn so much from her! Book Recommendations: *I Will Push You: A Journey of 500 miles, Two Best Friends and One Wheelchair by Patrick Gray and Justin Skeesuck *Everything Happens for a Reason: And Other Lies I've Loved by Kate Bowler *Run to the Light by Laura King Edwards Books by Dietrich Bonhoeffer Podcast Recommendations: Depth Podcast Episode 52 with Chris Simning Depth Podcast Episode 86 with Katherine Wolf Amanda Shanks is a passionate writer, speaker, teacher, and advocate.  She is a Licensed Clinical Mental Health Therapist specializing in Reproductive and Maternal Mental Health and currently serves as the President of the PURA Syndrome Foundation. She previously served as the Director of Fundraising for the PURA Syndrome Foundation and was a founding member and leader of the Annual World Rare Disease Day Rally of Charlotte and the Rare and Undiagnosed Network of Charlotte (RUNCharlotte).  She also volunteers at Shining Hope Farms, an organization which provides hippotherapy services to children with disabilities.  She has represented the PURA Syndrome Foundation and actively participates in various conferences hosted by Global Genes, NORD, and the EveryLife Foundation.  In addition to her rare disease advocacy work, she serves as an Elder at Avondale Presbyterian Church in Charlotte, NC, and recently followed a call to Union Presbyterian Seminary where she is pursuing a Master of Divinity and Master of Arts in Christian Education.  You can connect with Amanda on her website or on Instagram and Facebook @ToughLikeTaylor    *Note: If you are interested in purchasing this book or the books recommended, I would love for you to use the Amazon Affiliate link above to help support the podcast. Thank you!

Amy Grover has spent more than a decade in the rare disease space - cultivating her passion for helping others in the nonprofit world until recently. Now, Amy is using her expertise and heart of gold to bring patients and industry together in pursuit of better outcomes. As the newly appointed Senior Director of Patient Advocacy with Catalyst Pharmaceuticals, Amy is well-positioned to help meet the needs of patients while advancing treatments and services within the for-profit arena. Amy joins us for a casual conversation touching on the Niners vs. Rams, motherhood, and her work at Catalyst Pharmaceuticals.

Barby Ingle has received more than 20 accolades for her work in the chronic pain community over the years. She is a chronic pain educator, patient advocate, and President of the International Pain Foundation, as well as a motivational speaker and best selling author on pain topics. She has been a pain patient since developing endometriosis in 1997, and reflex sympathetic dystrophy in 2002. Barby wrapped up her live digital-tv webisode Season 8 of The Ken and Barby Show with her husband Ken Taylor late last year. Barby serves the Pain Community as a volunteer for the International Pain Foundation, Member 2006-2010, Executive Director 2011-2012, President 2013-current She also volunteers for Reality Rally, Global Genes, RDLA, CPATF, and other meaningful charity as she is able. http://www.barbyingle.com/ http://www.internationalpain.org/ Twitter @barbyIngle Facebook @barbyingleofficial Listen to more episodes at https://ResilientLifeHacks.com  MY BOOKS: Undefeated: From Trial to Triumph, How to Stop Fighting the Wrong Battles and Start Living Victoriously https://www.amazon.com/Undefeated-Trial-Triumph-Stand-Strong/dp/1640850872 Undaunted in Darkness: Finding Your Path From Broken to Bold, Your Daily Battle Plan for a Winning Life https://www.amazon.com/Undaunted-Darkness-Finding-Broken-Strong/dp/B09MYR8TH9/ Get my TOP 20 RESILIENT LIFE HACKS here! https://elizabeth-meyers.ck.page/1a1ef0ef89  Join our RESILIENT LIFE TRIBE: https://facebook.com/groups/resilientlifetribe

Today's guest: Monica Dudley-Weldon Her son was the 6th child diagnosed in the world! In November of 2012, Monica's twin son, Beckett, was the first to be diagnosed at Texas Children's Genetics Clinic with the gene mutation SYNGAP1. When Beckett was 4 months old, we noticed he was not meeting the same milestones as his twin sister. We then began a journey to find answers to help our son. She began to blog about his progress & this led to building a community of parents & caregivers & a strong support group. She is the Founder, President/CEO of Bridge the Gap – SYNGAP Education & Research Foundation. It is her passion to help support these families by raising awareness & creating a strong foundation that will accelerate a path to better therapies. She retired in 2016 after 23 years in education teaching secondary science. Her new focus is on building the programs & mission of Bridge the Gap – SYNGAP Education and Research Foundation. She is the Primary Investigator on the SYNGAP1 (MRD5) Registry & Natural History Study. She is a life member of the Worldwide Association of Female Professionals, DIA 2016 Patient Scholar, a member of the first-class of 2017 Illumina Ambassadors established in the United States, and a member of Women in Bio – Capital DC and Texas Chapters. In addition to leading the foundation, she is an author, public speaker, consultant on rare disease business strategies & advocates for rare disease legislation at both the federal & state levels. Several of her authored scientific publications include Nature Neuroscience, The Journal of Neurodevelopmental Disorders, The Journal of Pediatrics, and Value in Health Journal. She is also an internationally known editorial contributor and key opinion leader for Pharma Boardroom, London. She has authored a book about her son Beckett's diagnostic journey called “Slow Moving Stream - My Special Boy”. She is a graduate from East Texas Baptist University with a Bachelor of Science in Biology/Psychology (1991) & Secondary Certification in Education (1995). She is a Northwestern University Pritzker Law School candidate earning her Master in Science Law with a concentration in health and data privacy law. The projected graduation is in the Summer of 2022. She has five beautiful children, Haleigh (29), Taylor, USMC (27), Sawyer (24), & the twins Beckett & Pyper (13). A Global Genes 2015 & 2016 RARE Champion in Advocacy Award nominee & WEGO Health Awards Nominee for years 2015, 2017, 2018, 2019, 2020, & 2021 and chosen as a Global Shakers Rare Disease Awardee 2020 and 2021. To get in touch with Monica or follow her on Social Media: Founder of Syngap1 President/CEO SYNGAP1 Foundation 1012 14th Street NW, Suite 500 Washington DC 20005 O: 240-347-0302 C: 832-671-0010 Website: http://www.syngap1foundation.org Facebook Page: https://www.facebook.com/SYNGAP1Foundation Twitter Page: https://twitter.com/Syngap1Fnd Instagram: https://www.instagram.com/syngap1_foundation/ Linkedin: https://www.linkedin.com/company/syngap1foundation/

Investors poured almost $23 billion into rare disease therapeutics development last year, a 28% increase over 2020. Patients have been the spark plug behind the robust funding for, and greater attention around, these drugs. Craig Martin, CEO of rare disease advocacy group Global Genes, explains the perils and pitfalls to this patient-led revolution.

The growing concerns about equity, diversity, and inclusion has had particular resonance in the area of rare disease, where health disparities have been felt throughout the community. Eve Dryer, vice president of patient advocacy for Travere Therapeutics, has been involved in a number of efforts to address these issues and her company has played a critical role in funding initiatives to address health disparities that result from racial and socioeconomic drivers. On the heels of the recently completed Global Genes 2021 RARE Health Equity Summit, we spoke to Dryer about why Travere has focused on these issues, the work it is doing, and why it is such a critical issue for the rare disease community.

RARE MAMAS RISING- EPISODE 8  The Power of Storytelling in Community Building with Loving Large Author Patti M. Hall Patti M. Hall is a writer, collaborator, book coach, and founder of the Story House Mastermind. She is also the author of Loving Large: a mother's rare disease memoir. Patti's life was pitched into an abyss of uncertainty when a golf ball-sized tumor was discovered in her teenage son's head, and he was diagnosed with gigantism, a disease of both legend and stigma. After scrambling to access a handful of medical experts in the field, Patti learned that her son could grow uncontrollably, his mobility could be permanently limited, and his life could be cut short without timely and aggressive treatment. Patti's attention shifted fully to her son, away from her relationships as well as her own career and health. Patti's story is all of our stories. In fact, Patti wrote Loving Large for parents like us, whose children suffer from rare, chronic, or incurable diseases. In this episode, Patti gives a peek into her life, her book, and lessons learned along the way. Patti illuminates how sharing our stories has the power to build community and why a community is the very thing we need when navigating rare. EPISODE HIGHLIGHTS In this episode Patti & Nikki dig into: Receiving Aaron's diagnosis and the aftermath  Patti's experience scrambling to find doctors, research, and resources all while time was ticking away How the notion of “advocates as experts” has evolved during Patti's time in rare and why forming partnerships with care providers is necessary  Navigating ever-changing symptoms and circumstances and deciphering between big and small things on the rare ride The many roles Patti played while being a caregiver to her son including being a story keeper and a promise maker  The story behind her book Loving Large and how she rewrote it entirely  The bond she developed with her son while being “cellmates” together  How we, as rare moms, have to relieve ourselves from the guilt of being away from our kids long enough to take a break and shut off the “monkey mind.” The importance of sharing our lived experiences because community is how we survive and endure  LINKS & RESOURCES MENTIONED Patti M. Hall https://pattimhall.com/loving-large-book/ https://www.instagram.com/patti_m_hall/ https://www.facebook.com/pattimhallwriter Global Genes https://globalgenes.org/ Acromegaly Canada https://acromegalycanada.ca/ CONNECT WITH NIKKI Facebook https://www.facebook.com/RareMamas1/ Instagram https://www.instagram.com/Rare_Mamas/ Website https://raremamas.com/ Email info@raremamas.com  

On this episode, Mariah Heller sits down with Professor Lara Bloom to discuss Ehlers Danlos, Chronic Pain, and "Invisible Ilnesses" to dig deeper into WHY these issues have been so heavily neglected by the healthcare system, and WHAT we can do about it. Tune in for a conversation with an incredible person doing incredible things. Lara Bloom is the President and CEO of The Ehlers-Danlos Society and responsible for globally raising awareness of rare, chronic and invisible diseases, specialising in the Ehlers-Danlos syndromes, hypermobility spectrum disorders (HSD) and related disorders. Before joining the Ehlers-Danlos Society Lara ran EDS UK from 2010-2015. Lara regularly works with umbrella organisations lobbying at government level internationally. In addition to her role as President and CEO of The Ehlers-Danlos Society, she is the Global Ambassador for Global Genes and Advocacy Committee Member for Rare Diseases International, Co-Investigator in the NIHR CONCORD: CO-ordiNated Care Of Rare Diseases, Expert Advisor in the European Reference Network Groups RECONNECT & VASCERN, Expert Advisor to PARADIGM & EPF, Working Group Member of the GenTAC Alliance Patients, Families, and Clinicians, and a Patient Group Consultative Forum Member for the Medicines and Healthcare Products Regulatory Agency. Commemorating ten years in the field of patient advocacy for the Ehlers-Danlos syndromes (EDS), hypermobility spectrum disorders (HSD), chronic illnesses, and rare diseases, Lara was officially appointed a Professor of Practice in Patient Engagement and Global Collaboration at Penn State College of Medicine, USA, on March 11, 2020. Website: www.ehlers-danlos.com Website 2: www.larabloom.com LinkedIn: https://www.linkedin.com/in/larabloom/?originalSubdomain=uk Instagram: @lara.bloom and @ehlers.danlos

RARE MAMAS RISING - EPISODE 4 Best Case Scenarios with Special Education Community Advisory Committee Chair & Rare Mama Rachel Niemeyer-Sutherland When Rachel's daughter Sophia was diagnosed with Anophthalmia, the absence of a fully formed eye in her right eye, and Microphthalmia or small eye in her left, Rachel left her opera performing career to care for Sophia. At the age of seven, Sophia received the genetic diagnosis of RARB, a gene alteration in her Retinoic Acid Receptor Beta gene. At that time, Sophia was the only known person in the world with her specific mutation. Since then, Rachel has learned how to work with both researchers and other rare parents to advance treatment options. Rachel is also the chair of one of California's largest school district's Special Education Community Advisory Committees. Rachel offers up ways to work with researchers, tips for collaborating with special education administrators, and how she's learned to focus on best-case scenarios. EPISODE HIGHLIGHTS Can you tell me about Sophia? At two days old, I was told Sophia was blind and that her cognitive and motor functions would be limited. A few weeks later, it was confirmed that she had sight in one eye. A year later, we received a cerebral palsy diagnosis and eventually she was diagnosed with RARB. Sophia is now 13 years old, rides a horse, and walks with assistance. Any advice about how to keep pushing for answers?      Journal and keep notes and data to give to doctors. Try your best to learn to speak the doctor's language and learn as much as you can about your child's diagnosis. How do you move forward with a diagnosis where there aren't a lot of other known cases? The first thing I did was research. The next thing I did was widen my network to potentially find other patients. I looked at papers published and connected with the authors. I posted on Facebook about Sophia's RARB diagnosis and my network continued to grow. When you begin connecting with others, share information and knowledge to refine the possibilities. What have you learned about how to work with researchers? I learned about the National Institutes of Health (NIH), learned how to submit to clinical trials, how to do research, and about repurposed medications. Global Genes was a huge resource, and they have a Rare Patient Advocacy Summit each year that is very helpful.  In addition, I take notes and share them with researchers and doctors as giving them specifics is critical. What is your role in your school district's Special Education Community Advisory Committee? The Community Advisory Committee is made up of parents, educators, and community members who work collaboratively to improve programs, services, and communications for students with special needs. We discuss concerns, identify how to support parents, and advise the district and educational specialists. What are some learnings for navigating special education? Create a document that tells everything about your child and share this information. Go to your school district and ask for the organization that serves as the liaison between special education administration and parents and plug into that organization.  Build a relationship with your child's case carrier. What advice do you have for mothers who have a child with a newly diagnosed rare disease? Breathe and realize that a diagnosis is a starting place. It's essential to have hope because you don't know what your child will be capable of. It's important to assess parameters and know the worst-case scenario, but always ask for the best-case scenario. Knowledge is power and will help you navigate through. No matter how bleak the situation, realize the possibilities. Never give up. RESOURCES MENTIONED Global Genes https://globalgenes.org/ National Institutes of Health https://www.nih.gov/ CONNECT WITH NIKKI Facebook https://www.facebook.com/RareMamas1/ Instagram https://www.instagram.com/Rare_Mamas/ Website https://raremamas.com/ Email info@raremamas.com