The Rare Disorder Podcast

This episode isn’t about rare disease, advocacy, or biotech—at least not directly. It’s different. It’s slower. It’s personal.I recorded this audio piece on my summer abroad in Switzerland and Italy, where I spent time hiking, wandering, and rethinking what leadership means when you’re not in control, but still choosing how to move.It’s part travel log, part inner documentary. I talk about stillness, curiosity, presence, and how stepping away from my usual roles helped me return to them with more clarity.If you’ve been feeling burnt out, stuck, or unsure how to lead when you don’t have answers—this one’s for you.🎙️ It’s not my usual content, but maybe it’s exactly what I needed to create right now.Stay tuned for the next episode of The Rare Disorder Podcast, coming soon.

Welcome to "Innovate, Iterate, Impact" ft. Co-Founder of AdaptTrack, Samuel Taggard. This is a podcast exploring the transformative journey of entrepreneurship through the lens of academic learning and real-world insights. Join Shivani Vyas, a Duke University student studying Financial Economics and Entrepreneurship, as she reflects on key lessons from the course I&E 352: Strategies for Innovation and Entrepreneurship, taught by Professor Shep Moyle. In this episode, Shivani dives into the art of understanding customer needs, building scalable solutions, and leveraging data-driven strategies to solve meaningful problems. Featuring insights from Duke alumni and entrepreneur Samuel Taggard, listeners will discover the challenges and triumphs of launching and scaling a successful venture.Packed with actionable takeaways, personal growth stories, and practical advice, this podcast is perfect for aspiring entrepreneurs and innovators eager to turn their ideas into impactful solutions. Whether you're starting small or dreaming big, this episode will inspire you to take the first step toward your entrepreneurial journey.

Show Notes: In this episode, I chat with Wes Michael, President at Rare Patient Voice. Wes Michael, President and Founder of Rare Patient Voice, has been involved in rare and orphan diseases since 1998, interviewing and surveying patients, caregivers, physicians, nurses and advocacy leaders. Wes has more than 40 years experience in marketing research, and more than 20 years in healthcare marketing research. Rare Patient Voice, LLC provides patients and caregivers with rare diseases an opportunity to voice their opinions through surveys and interviews to improve medical products and services. While Rare Patient Voice started by focusing on rare diseases, they now welcome patients and caregivers with all medical conditions. Rare Patient Voice takes an active approach to meet patients at conferences and events. Their phone is always open to members. The more they can engage with patients, the more they can advocate for them and help their voices be heard.  Explore more! Website: https://rarepatientvoice.com/ LinkedIn: https://www.linkedin.com/company/rare-patient-voice/ See you all next week! - Shivani Vyas ☺ @raredisorderpod on IG, FB, & Twitter, The Rare Disorder Podcast on LinkedIn https://linktr.ee/theraredisorderpodcast

Show Notes: In this episode, I chat with Ben LeNail, Healthcare Investor & Consultant.  Ben Lenail, based in Palo Alto CA, has consulted with biotech companies such as Minoryx Therapeutics, Autobahn Therapeutics, and Deep Genomics. Ben is an investor in 15 early-stage healthcare companies with HealthTech Capital. He is a mentor with the Chan Zuckerberg Initiative; and serves on the Board of ALD Connect and the Advisory Board of the UCSF Center for Vulnerable Populations. Ben has worked in high-tech in Silicon Valley for 30+ years. He’s a graduate of the University of Washington in Seattle WA and Sciences-Po in Paris. Ben’s wife Laurie Yoler has been his partner for three decades. Explore more! WSJ Profile: https://www.wsj.com/articles/a-rare-disease-wont-keep-this-mountain-man-off-the-trails-11544875201 Mercury News Profile: https://www.mercurynews.com/2017/11/13/palo-alto-entrepreneur-brings-tech-savvy-to-an-illness-that-hits-home-ald/ Brain & Life Profile: https://www.brainandlife.org/articles/adrenoleukodystrophy-inspires-purpose/ See you all on Saturday! - Shivani Vyas ☺ @raredisorderpod on IG & Twitter, The Rare Disorder Podcast on LinkedIn https://linktr.ee/theraredisorderpodcast

Show Notes: In this episode, I chat with Dr. Terry Jo Bichell, Founder & Director at COMBINEDBrain.  Terry Jo Bichell worked as a documentary filmmaker in the early days of videotape, then became a public health nurse-midwife after filming a difficult birth in West Africa. When her youngest child, Lou, was diagnosed with Angelman syndrome, she switched from midwifery to clinical research on Angelman syndrome. Eventually, she went back to school to earn a PhD in neuroscience from Vanderbilt University in an effort to find treatments for her son. Along the way, she studied gene-environment interactions in Huntington disease as well as circadian aspects of Angelman syndrome and was a columnist for HDBuzz. After graduating, she was the Founding Director of the Angelman Biomarkers and Outcome Measures Alliance until 2018.  Dr. Bichell founded a new non-profit in 2019, COMBINEDBrain (Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders), to assist other rare and ultra-rare neurogenetic disorders with clinical trial preparations. Explore more!  Website: https://combinedbrain.org/ Instagram: https://www.instagram.com/combinedbrain/ Episode Segments: Intro, Rare disease fact of the week, Guest interview, Q & A Session, Outro See you all next week! - Shivani Vyas ☺ @raredisorderpod on IG & Twitter, The Rare Disorder Podcast on LinkedIn https://linktr.ee/theraredisorderpodcast

Show Notes: In this episode, I chat with Daniel Dry Dock Shockley, a retired Navy, a veteran, and a 10 year hereditary colon cancer warrior. Daniel serves as a member of the University of Michigan Genetic Hereditary Testing (Might) Advisory Board and of the University of Texas Health Center, San Antonio, Texas, where he does live-case presentations for the Genetics in GI Malignancy multidisciplinary annual conferences. Daniel says that his purpose is to educate the world about Attenuated Familial Adenomatous Polyposis (AFAP) and continuing the legacy of Dr. Henry T. Lynch, who emphasized the importance of early detection in a hope of saving lives. Right now, Daniel is seeking legislative jurisdiction to designate the last full week of March as Hereditary Colon Cancer Syndrome Awareness Week. It's a daunting task and will take years to accomplish. However, he is “battle tested” and ready to lead the charge! After three years of collaborating on March 23, 2021, Texas Senator Donna Campbell, M.D., sponsored Daniel’s HCC resolution initiative and presented the resolution on the Senate Floor, during Texas 87th Legislature Session. Connect with Daniel! Instagram: instagram.com/dandrydock___ Important Links: https://linktr.ee/Dandrydock Episode Segments:  Intro Rare disease fact of the week Guest interview Q & A Session Outro See you all next Saturday!  - Shivani Vyas ☺ @raredisorderpod on IG & Twitter, The Rare Disorder Podcast on LinkedIn https://linktr.ee/theraredisorderpodcast

The episode we've all been waiting for, and it's finally here! In this episode, I'm so honored to chat with Beth Nguyen. Beth is the Managing Director; Founding Partner, and President of Rare STRIDES. Beth is a seasoned registered nurse with a diverse background in critical care, transplant, and emergency room; Honored Atlanta AJC Nurse of the Year Nominee three years consecutively for excellence in bedside care; Serves as the volunteer Georgia Ambassador for the National Organization for Rare Disorders; Led efforts to establish the Georgia Rare Disease Advisory Council; Leader of Annual Rare Disease Day events in Georgia; Founder of Worldwide Syringomyelia & Chiari Task Force; a 501c3 nonprofit; Founder of Rare STRIDES; Developed the first Rare Multidisciplinary Rare Disease Model of Care, Authored numerous published articles and a book including “What is the Purpose of Collaboration and Continuity of Care”, “Beyond Syringomyelia”, and was the Recipient of the 2017 Rare Impact Awards in Washington, DC. Beth’s humbling and often difficult personal experiences with rare as a patient, medical professional and rare leader empowered her to give back to those with unmet needs in the rare community. She is leveraging wisdom gained over the years through first-hand experience as a powerhouse of knowledge to help drive progress in all areas of care coordination and direct medical care in the field of rare diseases. She is fiercely devoted to empowering healthcare teams and patients with groundbreaking technology that will promote patient safety, prevent complications, advance care coordination, deliver vetted services, streamline models of care, and set a new standard for excellent medical care across all disciplines for men, women and children with rare diseases. Favorite quote: “Rather, ten times, die in the surf, heralding the way to a new world, than stand idly on the shore.” Florence Nightingale ***note: in this episode, I mentioned that Rare STRIDES is a non-profit organization. Instead, it is an organization that is passionate about giving back to fund patient programs and continued innovation for children and adults with rare diseases who deserve excellence in healthcare. Explore more!  rarestrides.com @rarestrides 

In this episode, I chat with Rich Horgan, the Founder and President of Cure Rare Disease.  Cure Rare Disease is developing custom therapeutics that are as unique to the individuals they are meant to treat. Their mission is to offer effective, life-saving treatments developed through collaborations with world-renowned researchers and clinicians, and in partnership with our generous donors. Their customized therapeutics are designed specifically for the men and women who continue to fight for their right to live long, full, healthy lives despite having been diagnosed with a rare genetic disorder for which they’ve been told there is no treatment or cure. Richard Horgan is the Founder and President of Cure Rare Disease. He has a deep passion for reimagining how rare and ultra-rare diseases are treated. With a younger sibling impacted by a rare disease, Rich has a strong interest in accelerating promising treatments for rare diseases. He formed an interdisciplinary collaboration of world-class researchers and clinicians to pioneer the rapid development of customized therapies for rare, genetic diseases. Prior to making his foray into biotech, Rich had extensive experience working in new business development at Corning Incorporated where he led the successful launch of a new product line. He also launched a successful car washing business in New York. He holds a BS from Cornell University where he graduated summa cum laude and an MBA from Harvard Business School where he was awarded the Blavatnik Fellowship for Life Science Entrepreneurship. Rich was recognized by Business Insider as one of ‘30 leaders under 40 transforming healthcare in 2020’ and, most recently, was named on the 2021 Forbes 30 under 30 list. Learn more about Cure Rare Disease and how to get involved! Website: https://www.cureraredisease.org/ Instagram: https://www.instagram.com/cureraredisease/

In this episode, I chat with Saida Mahoney, a fighter of Partial Trisomy Of 8q. Saida Luvenia Mahoney is 25 years old and lives in Oakland, California. She is an author and a proud student at Modesto Junior College, San Joaquin Delta College, and Merced College. Saida is a performing arts major and creates music, does dance, and performs in theatre. She also does recording arts, songwriting, and acting. Saida is a Pageant Queen and was crowned 2021 California Miss Amazing Queen and was also a finalist at The Miss Amazing Nationals. In addition, she is a athlete for the Special Olympics, Miracle League, and AYSO Soccer. She loves to dance, cheer, and sing.  Saida is a proud rare disease and disability advocate. One of her goals is to transfer to UCLA, UC Irvine, or UC Santa Barbara when she graduates from Modesto Junior College. Some of her favorite music artists and bands include Don Henley, The Eagles, Justin Bieber, Glenn Frey, Joe Walsh, Timothy B Schmit, KT Oslin, Amy Grant, Vince Gill, The Doobie Brothers, Dolly Parton, Reba McEntire, Martina McBride, Deacon Frey, Lucy Walsh,  Katy Perry, Foreigner, Linda Ronstadt, Jackson Browne, James Taylor, Stevie Nicks, Lindsey Buckingham, Fleetwood Mac, Tom Petty, Jack Tempchin, Jojo Siwa, Bob Seger, and more! Finally, she loves to travel, camp, go to the moves, and help others. Currently, she is getting many projects and foundations starting up regarding her rare disease advocacy! Keep up with her advocacy journey! Blog: https://drewsloversmoon.wordpress.com/2021/01/03/my-journey/ Facebook: https://www.facebook.com/OMGWHATSHAPPENINGWITHSAIDA/ Instagram: https://www.instagram.com/drewsloversmoon/ Her very own published book: https://www.wattpad.com/story/259234397?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=DREWSLOVERSMOON&wp_originator=bB2OGyqdMAHwEBepVCAm99f4Qefqwd4PscGeT0WXFc%2Bq%2Bn3zL%2Fpo9avRH92bI09Xz5cc8gX0oIlEn0ArI%2BGF80ihE%2B%2BIEMBCl%2BEy3MPGdbMsZq10l29nMnvVsJcrMq%2Bi

In this episode, I chat with Ella Balasa, a Patient Advocate, Speaker, and Consultant.  Ella is passionate about amplifying the patient voice in healthcare. Having a background in biology, Ella has experienced both sides of the research spectrum - as a patient and a scientist.  Examining antibiotic resistant bacteria in the environment, which is the same bacteria that thrive in the lungs of those with CF, her work in the lab intersected with her health. This fueled Ella's interest in involving herself in a research capacity on committees and advisory roles with organizations providing a patient perspective and promoting patient centricity. Simultaneously she developed a passion for writing, sharing her research experiences and introspectively writing about life with a chronic disease. ​ When Ella became very ill in the winter of 2019 with an exacerbation of the bacteria in her lungs due to CF, these experiences and interactions with researchers gave her the confidence to leverage her voice – and pursue an experimental treatment called phage therapy. Ella sought out and coordinated her treatment directly with researchers at Yale University. Being one of a few patients in the US who had tried this therapy, her experience was documented by the Associated Press. Because of the success of her treatment, Ella wanted to share about her experience to increase visibility for a viable alternative for other patients facing drug resistant infections. The exposure provided a platform from which Ella established herself as a patient advocate, publishing her experience, empowering other patients also battling infection, and inspiring the research community in further pursuit of phage research. Since then, Ella has spoken publicly at various conferences, congressional meetings, the Milken Institute, and the FDA about the need for the development of novel therapies for the treatment of antibiotic-resistant infections. Ella has been published in medical journals, she is a patient reviewer for BMJ journal, and on the board of directors of the US Adult CF Association, a CF non-profit committed to educating and supporting the CF community. Ella believes that understanding the patient experience is vital to healthcare companies, researchers, and initiatives and receiving this information through solution focused patient advocates facilitates both the disease community and all other stakeholders to advance medical progress together.​ Learn more about Ella & her work!  Website: https://www.ellabalasa.com/ Instagram: https://www.instagram.com/ellabalasaadvocacy/

In this episode, I chat with Terry Wilcox, the Founder and Executive Director of Patients Rising and Patients Rising Now.  Formed in 2015 as a 501(c)3, Patients Rising has developed a significant following of over 110,000 patients and caregivers and has guided more than 25,000 of them on their journeys to advocate for themselves and their loved ones to get the care and treatments they need to live a fulfilling life. Patients Rising Now is a national nonprofit organization dedicated to advocating for the rights of patients with chronic and life-threatening illnesses. We work at community, state and federal levels to activate patients in support of reforms and legislation aimed at advancing patient access to and affordability of healthcare. A passionate advocate for patients with cancer and other serious diseases, Terry Wilcox is Executive Director of Patients Rising, a non-profit patient education and advocacy organization that helps patients get access to essential diagnostics and the treatments they need. Inspired by Selma Schimmel, considered by many as the “original” young adult survivor advocate, Terry left a career in Los Angeles in the entertainment industry to join Vital Options International (VOI), a cancer communication, education and advocacy organization Selma launched in 1983 to facilitate a global dialogue on cancer. From 2008 to Selma’s death in May 2014, Terry worked alongside her mentor as creative director of VOI and the supervising producer of a video program called The Group Room that featured discussions with the world’s leading oncologists and cancer researchers. After Selma’s death, Terry continued to advance Selma’s legacy as VOI’s ExecutiveDirector until August 2015, when she moved to Washington, DC and co-founded Patients Rising with her husband. Now Terry and her team engage the patient community, along with physicians, health policy experts and allied healthcare professions, to develop realistic, solution-oriented discussions so those with life-threatening and chronic diseases will have a voice in shaping policies that will improve access to quality care. Learn more about Patients Rising and Patients Rising Now and how to get involved! Websites: https://www.patientsrising.org/ & https://patientsrisingnow.org/  Instagram: https://www.instagram.com/patientsrising/ & https://www.instagram.com/patientsrisenow/

In this episode, I interview Jenny Jones, a fighter of Familial Adenomatous Polyposis and Short Bowel Syndrome. Jenny was diagnosed with the rare, hereditary colon cancer syndrome Familial Adenomatous Polyposis at age 8 and had her first surgery to remove her colon at age 9. After experiencing life-threatening complications, Jenny required 4 more surgeries that year and developed another rare disease - Short Bowel Syndrome as a result. She lived with an ileostomy for 6 years before having it reversed into a Straight Pull Thru and again experienced life-threatening complications. Jenny has been able to surpass all the odds though and went on to earn a Master's Degree and maintains full time employment in addition to her rare disease awareness and advocacy efforts through her blog, Life's a Polyp. Keep up with her advocacy journey! Blog: www.LifesaPolyp.com Youtube: www.Youtube.com/LifesaPolyp Merch Website: www.CafePress.com/LifesaPolyp Social Media Handle: LifesaPolyp

In this episode, I chat with Parvathy Krishnan, a rare mom and the Foundation Alliance Manager at Global Genes. Global Genes provides hope for the more than 400 million people affected by rare disease around the globe. They fulfill their mission by helping patients find and build communities, gain access to information and resources, connect to researchers, clinicians, industry, government, and other stakeholders, share data and experiences, stand up, stand out, and become effective advocates on their own behalf. Parvathy Krishnan earned her MS from Rutgers University, NJ and her clinical training from Mayo Clinic of Health Sciences, Rochester, MN. She has worked as a clinical dietitian at Duke University Medical Center and has gained experience in the nonprofit world from her role as a Patient Engagemen and Advocate in NC. Parvathy is a speaker, panelist and often serves on national and international efforts to promote patient and caregiver experience. As a mom to two medically complex children, Yash and Ira, Parvathy is passionate in helping others find their voice and message. She loves sunshine, gardening and traveling. Learn more about Global Genes and how to get involved! Website: https://globalgenes.org/ Instagram: https://www.instagram.com/globalgenes/

In this episode, I chat with Courtney Felle, a Patient Engagement Fellow at EveryLife Foundation for Rare Diseases. The EveryLife Foundation for Rare Diseases is a 501(c)(3) nonprofit, nonpartisan organization dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures. The Young Adult Representatives of RDLA (YARR) are a highly motivated group of rare disease community members between 16 and 30 years old, including patient advocates, siblings, caregivers, and loved ones. The main purpose of YARR is to instill confidence in the next generation of rare disease advocates. We want to ensure that young adults have a growing impact on public policy in the rare space, offer skill-building opportunities to foster growth in each individual’s advocacy journey, and have diverse young adult representation across each state. YARR members will have opportunities to improve their advocacy skills no matter what level they are at and meet other like-minded young adults who want to make their voices heard. Courtney Felle (she/they) recently graduated from Kenyon College, where she concentrated in Health, Illness, and Disability Studies. As a person living with multiple chronic conditions and disabilities, including hypermobile Ehlers-Danlos syndrome, they are passionate about patient-advocate organizing, health equity, diagnostic processes, and disability justice. Previously, they interned with the American Association for People with Disabilities, the Administration for Community Living in HHS, and the Anthem, Inc. Disability Policy Engagement Team, and they co-organized student initiatives around accessibility, LGBTQ+ rights, and student workers’ justice. In their free time, they enjoy crocheting, drinking too much tea, and taking long road trips. Follow YARR on Instagram: https://www.instagram.com/hearusyarr/ Become a YARR Member: https://everylifefoundation.org/young-adult-representatives/

In this episode, I chat with Maria Thacker-Goethe, the CEO of Georgia Bio.  Maria Thacker-Goethe has more than 13 years of experience in non-profit management and development. She was appointed president and CEO for Georgia Bio and the Georgia BioEd Institute in February 2019. Maria has helped build the organization into one of the top state bioscience and medtech associations through her community outreach and engagement, member development, and leadership on various special projects and programs to increase community connections and resources. Additionally, she had been responsible for conceiving, developing and executing a comprehensive internal and external communications strategy. In addition to her work with Georgia Bio, Maria is Executive Director of the Georgia Global Health Alliance which strives to advance global health equity by promoting and facilitating collaboration amongst business, academia, non-profits and government organizations within Georgia and linking them with partners in the US and other countries. Officially launched in late 2016, GGHA is working with the global health community in Georgia, local community business leaders, and national partners to develop strategy and organize the sector to embrace collaboration and speak with a collective voice. GGHA is a lead partner along with the Metro Atlanta Chamber and Deloitte for the Global Health ATL campaign. GGHA is housed within Georgia Bio. Maria has a diverse background including environmental health, women’s health and health communications and marketing. Prior to joining Georgia Bio, Maria participated in a fellowship at Centers for Disease Control & Prevention/Agency for Toxic Substances and Disease Registry in environmental investigations, working closely with the National Center of Environmental Health in Chemical Demilitarization. Maria serves as a board member of the CJD Foundation, the Southeast Life Sciences Association, the Council of State Bioscience Associations, the Coalition of State Bioscience Institutes, and the Kennesaw State University Research and Service Foundation. She is a 2019 recipient of the Atlanta Business Chronicle’s 40 Under 40 Award for career achievements and having demonstrated social responsibility; 2019 recipient of the Metro Atlanta Chamber Phoenix Award for her role as an ambassador for life sciences and global health in the state of Georgia; and 2009 recipient of the Power 30 Under 30 Award for professional and community excellence. Maria received her Master in Public Health in health education/communication, and maternal and child health from Tulane School of Public Health and Tropical Medicine, and her Bachelor of Arts in Environmental Studies from Sweet Briar College. Additionally, Maria has volunteered for over 10 years with the Junior League of Atlanta/La Amistad Estrellitas program which works to empower Latina teens. When she is not busy working or volunteering, she spends her time with her daughter Cecilia and husband Patrick.

In this episode, I chat with Dr. Sarah McCool, who is a Clinical Associate Professor and Director of Undergraduate Programs at the School of Public Health at Georgia State University. In this podcast, Dr. McCool discusses various projects she has completed, causes she is passionate about, her extensive background and experience, and much more!  Dr. McCool has worked in global health in various capacities since 2010. She most recently worked to support a United States Agency for International Development (USAID)- funded child protection/anti-trafficking project in Haiti. She has worked extensively in the area of tuberculosis surveillance and prevention in Asia. She completed a USAID Research & Development fellowship in Indonesia and consulted for a Fortune 500 company on methods for reducing tuberculosis incidence among garment factory workers in South Asia. Dr. McCool was previously the Executive Director of a Haiti-based NGO that provides primary care to the rural southwest population. She has lived in Singapore, Indonesia and Haiti and has studied and learned—to varying degrees—French, Haitian Creole, Bahasa Indonesia and BCS (Bosnian, Croatian and Serbian) as a U.S. Department of State Critical Languages Scholar. She continues to work with the Good Birth Network, a global network of birthing homes in more than 30 countries. She also initiated and currently facilitates the partnership between Georgia State University and the United Nations Population Fund (UNFPA). Her research interests include collective action among global health stakeholders and maternal health. She is currently researching collective action between global health organizational stakeholders during the 2014-2016 West Africa Ebola epidemic. ----- Hope you all enjoyed this one; See you on Wednesday for a new episode! In the meantime, keep up to date with my podcast and involvement (Lately, I've been speaking at conferences!): https://linktr.ee/theraredisorderpodcast Shivani Vyas☺

In this episode, I chat with Dr. Monkol Lek, who is an assistant professor of genetics at Yale University, and an avid researcher with his own established lab, the Lek Lab, at Yale Medical School. He is also part of the research team at Cure Rare Disease, an organization with a mission to develop custom therapeutics that are as unique to the individuals they are meant to treat. In this podcast, Dr. Lek discusses what piqued his interest in rare disease research, his extensive background and experience, topics of interest, and much more! Dr. Lek received an undergraduate degree in Engineering (Computer Engineering) in 2000 at the University of New South Wales (UNSW) and then worked for IBM for 3.5 years. He returned to UNSW and completed undergraduate degrees in Science (Physiology) and Engineering (Bioinformatics) and received the University Medal in 2007. He completed his PhD (Medicine) at the University of Sydney in 2012 with the thesis topic: Functional differences between alpha-actinin-2 and alpha-actinin-3. Dr. Lek then did his post-doctoral training in Daniel MacArthur’s lab based at Massachusetts General Hospital, Harvard Medical School and the Broad Institute. He was the lead author/analyst for the Exome Aggregation Consortium (ExAC) project that was published in Nature 2016. Dr. Lek then went on to lead the NIH funded Broad Center for Mendelian Genomics (CMG) analysis team. As lead analyst, he oversaw the analysis strategy for all major CMG collaborations and organized monthly meetings to foster sharing of new methods and analysis amongst the rare disease community. He also coordinated the data processing and preliminary analysis of NIH Gabriella Miller Kids First (GMKF) cohorts sequenced or reprocessed at the Broad Institute. Dr. Lek has a strong passion for rare muscle disease research as a patient with Limb Girdle Muscular dystrophy (LGMD2G). During his time in the Broad Institute, he led the exome/genome analysis of MYOSEQ (European cohort of >1000 LGMD patients) and SeqNMD (an international consortium of undiagnosed rare muscle diseases) which has resulted in novel disease gene discovery. Now, Dr. Lek has his own established lab, the Lek Lab. The Lek lab was established in January 2018 at Yale School of Medicine and is focused on understanding the genetic mechanism of rare diseases that may lead to rational approaches for therapies. Learn about Cure Rare Disease, an organization Dr. Lek researches for! Website: https://www.cureraredisease.org/ Instagram: https://www.instagram.com/cureraredisease/ ----- Hope you all enjoyed this one; See you on Saturday for a new episode!  In the meantime, keep up to date with my podcast and involvement (Lately, I've been cross-podcasting!): https://linktr.ee/theraredisorderpodcast Shivani Vyas ☺

In this episode, I chat with Tara Britt, who is the Associate Chair of the North Carolina Rare Disease Advisory Council and Founder and President of the Rare Disease Innovations Institute. Rare Disease Innovations Institute is a global non-profit focused on educating, engaging and equipping the rare disease community. Through policy, tools and data they achieve a higher quality of life, accelerating diagnosis and enabling access and treatment. Tara currently serves as Associate Chair of the North Carolina Rare Disease Advisory Council and Network.  The council was created as a result of co-authoring legislation with a North Carolina patient advocate to create a Rare Disease Advisory Council signed into law, August 2015. Tara has created a unique rare disease ecosystem within the state that brings together patients, caregivers, academics, clinicians, foundations, industry and any entity in rare disease.  Through this non-profit and her rare disease network, RDII has developed exclusive toolkits for other states to build upon the learning and success of North Carolina enabling creation of successful councils and unique rare disease networks. The toolkits are state tailored to the unique rare disease population.  RDII also partners with rare disease advocacy groups, academia, foundations, healthcare systems, state and federal government and industry to build disease specific models to support targeted disease populations and the challenges to accessing care and managing their disease.  These models are currently developed in North Carolina and can be modeled globally by the RDII team. Learn more about RDII! Website: https://rdii.org/ Instagram: https://www.instagram.com/rdii__org/

In this episode, I chat with Annie Watson, a high school student, aspiring journalist and podcaster who has a rare sleep disorder called narcolepsy. She was diagnosed at 6 years old, and finally stepped into the rare disease community as a freshman in high school. She has been involved with Narcolepsy Network since 2018, and started her podcast, R is for Rare, in January 2021. She writes for her high school newspaper, works on set construction for her high school musicals, and is hoping to study journalism and political science in college next year. Listen to her podcast, and follow along on her advocacy journey! Apple Podcasts: https://podcasts.apple.com/us/podcast/r-is-for-rare/id1547442737 Spotify: https://open.spotify.com/show/1r3U5ahuNCIzPlxqzKvbmS?si=Dh0hsHVWR0SAX8wqD3qqrg&dl_branch=1 Instagram: https://www.instagram.com/risforrarepodcast/?hl=en

In this episode, I chat with Anna Laurent, who is the Head of Programs and Initiatives at Our Odyssey, an organization which aims to connect young adults impacted by a rare or chronic condition with social and emotional support in the hope of improving their quality of life. Our Odyssey's vision is to establish a national organization with a platform that empowers, educates, and connects young adults experiencing health challenges. After becoming involved in numerous patient advocacy organizations, she found a lack of resources supporting young adults and this ignited her passion for uplifting the needs and voices of young adults. Anna has lobbied on Capitol Hill leading a team of Kentuckians advocating for vital rare disease and healthcare legislation. The culmination of this work led to Anna becoming the Head of Programs and Initiatives at Our Odyssey, an organization connecting young adults impacted by rare or chronic conditions with social and emotional support in the hope of improving their quality of life. She is a powerful advocate, educator, and speaker and plans to continue advocating for years to come! Anna, herself, battles Alagille syndrome, an inherited condition in which bile builds up in the liver because there are too few bile ducts to drain the bile, thus resulting in liver damage. She is deeply involved in advocacy efforts and strives to bring awareness to this rare condition.  Learn more about Our Odyssey and get involved! Website: https://ourodyssey.org/ Instagram: https://www.instagram.com/_ourodyssey_/