American Kidney Fund’s CMO and a patient advocate explore FSGS, APOL1 risk, delayed diagnosis, and the realities of living with genetic kidney disease.
All in Rare Disease
#390 Prince, Mayte Garcia, and Their Son Amiir’s Pfeiffer Syndrome Type 2 Story
Ten years after Prince’s passing, his first wife, Mayte Garcia reflects on her grief of losing him and their son Amiir, while honoring their legacies through Live 4 Love Charities.
#389 From Natural History to Gene Therapy: The Future of Danon Disease Research
Unlocking the cellular 'traffic jam' of Danon disease: how global natural history data is paving the way for life-saving gene therapy to stop heart failure in its tracks.
#388 From Medical Mystery to Gene Therapy: One Family’s Sialidosis Journey
Siblings Dan and Faith share their family’s experience with Sialidosis; from the decade-long hunt for a diagnosis to the groundbreaking research they are involved in.
#387 The Hidden Work of Rare Disease: Navigating a Broken Healthcare System
Recorded live at UConn’s 2026 Rare Disease Symposium, we reveal the grueling work of the rare journey, from battling medical dismissal and insurance denials to the fierce advocacy required.
#385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity
See how tools like long read sequencing, RNA sequencing, MAVEs, and AI are ethically transforming WGS to make patients lives better.
#384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey
Baylor Genetics’ Chief Medical Officer Dr. Christine Eng explains how RNA sequencing complements DNA testing to unlock diagnoses for rare disease patients.
#383 Inside the Brazilian Rare Genomes Project
How whole genome sequencing is transforming rare disease diagnosis in Brazil featuring MGI’s Victor Camillo and Neogenomica’s Dr. João Bosco Oliveira.
#380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I
In the pilot episode of Gene Pool Media’s newest podcast Rare Rebels, parent Mark Dant shares how grassroots advocacy and a scientist’s persistence reshaped rare disease drug development.
#378 Why This Week’s NIH Funding Vote Matters for Rare Disease Patients
Policy expert Paul Melmeyer breaks down what the current NIH funding decisions (in late Jan 2026) could mean for research momentum and patients.
#376 Why Females with Fabry Disease Aren’t “Just Carriers”
Clinical geneticist Dr. Amy Kritzer reveals why Fabry disease looks so different across sexes and what that means for diagnosis and treatment.
#372 Fighting for Time: Hunter Syndrome, Gene Therapy & Urgent Advocacy
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.
#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.