Kristin McKay, Executive Director of Project Alive, is dedicated to accelerating treatments, expanding care, and supporting families affected by Hunter Syndrome, a disease that impacted her brother and now her son.
All in Rare Disease
#371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy
Geana Dyer, BS, RN, the Founder of the Cockayne Syndrome Foundation shares her experience parenting 5-year-old Ronin, filmed at the New England Regional Genetics Group (NERGG) conference.
#362 Optical Genome Mapping: Detecting Structural Variants Missed by Traditional Tests
Greenwood Genetics Center’s Dr. Nikhil Sahajpal reveals how OGM is changing clinical diagnostics from missed structural variants to new gene disease association.
#358 AGBT Precision Health 2025 Meeting Recaps and Reflections
Drs. Christine Eng, Eric Green, and Marina Sirota share highlights of their presentations at this week’s AGBT Precision Health 2025 Meeting in California.
#356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases
The Rare Disease Diversity Coalition’s Jenifer Waldrop shares her insider strategies on advancing health equity for rare diseases through advocacy, partnerships, and policy change.
#355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey
Explore how MGI’s genomic innovation is transforming rare diseases (and even dual diagnoses) care in Turkey and around the globe from Dr. Serdar Ceylaner and Alice Peng.
#343 The First Child to Receive CRISPR for Duchenne? A Father’s Fight for a Cure
When William was diagnosed with DMD, his family set out to raise $2.2 million to design a cure with CRISPR.
#342 $10 Million for a Cure: Donating Mr. Beast’s “Beast Games” Winnings For Son’s Creatine Transporter Deficiency
Behind the scenes of Beast Games, and the bigger battle the Allens are fighting.
#338 Social Determinants of Health and Mental Health in Urea Cycle Disorders
Neuropsychologist Kendra Bjoraker and metabolic nurse practitioner Erika Vucko share how clinicians can better support patients with UCDs by addressing SDOH and mental health challenges.
#332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight
An in-person conversation at the 2025 Connecticut Rare Disease Forum with The National Organization for Rare Disorder’s President/CEO Pam Gavin sharing how patient advocacy organizations are vital to research and development.
#330 Rare Disease Parenting: A 7-Year Diagnostic Odyssey to Wiedemann-Steiner Syndrome
What parents Caleb and Abbi Walh wish every family knew about navigating a rare diagnosis.
#329 Preventive Genomic Medicine: Saving Lives and Healthcare Costs with MyOme
Shifting healthcare from reactive to proactive, Dr. Matthew Rabinowitz breaks down how preventive genomic medicine can save $200 billion annually in healthcare costs.
#328 Breakthrough Biotech: CAR-Ts for Solid Tumors & Engineered Bacteria for Rare Diseases
Interviews recorded at BIO’s CEO and Investor Conference with two biotech executives: Cellinfinty Bio’s Dr. Premal Patel and Azitra’s Dr. Travis Whitfill.
#323 Supporting Ongoing Urea Cycle Disorder (UCD) Care
Two UCD experts, Holly Bernal and Laurie Bernstein, share how clinicians can better engage patients in their own care to help them sustain their daily UCD management needs.
#322 Susannah’s Nano-Rare Journey: 2 Years of Treatment and Triumph
Join Susannah’s father, Luke Rosen, and her physician, Dr. Jennifer Bain, as they share her remarkable progress and hope-filled journey with n-Lorem’s groundbreaking nano-rare treatments.
#308 Congenital Myasthenic Syndromes with Dr. Hanns Lochmüller
After discovering she’s a carrier for Congenital Myasthenic Syndromes, host Kira Dineen sought out to learn more. She met a leading expert in CMS, Dr. Hanns Lochmüller.
#303 RNA Analysis with Ambry Genetics
Dr. Rachid Karam explains how RNA testing increases diagnostic yield and reduces variants of uncertain significance in cancer and exomes.
#299 Genetic Causes of Epilepsy with Dr. Mattison, Dr. Oliveira and Ana Rita
The role of the ATP6V0C gene in epilepsy is explored with researcher Dr. Kari Mattison and v-ATPase Alliance’s Dr. Luis Miguel Oliveira and Ana Rita.
#296 Epigenetics and Beyond: Dr. John Greally's Journey
Exploring genomics while serving communities in The Bronx, the evolving study of epigenetics, and learning through personal insight from a clinical geneticist.