Kira Dineen and Karl Krahn recap and reflect on their first attendance at the American College of Medical Genetics (ACMG) 2025 conference in Los Angeles.
#333 Approaching a Down Syndrome Diagnosis with Care
To celebrate World Down Syndrome Day the Founder of Jack’s Basket, Carissa Carroll, shares how healthcare providers can approach a Down syndrome diagnosis with care and neutrality.
#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.
#331 Pediatric Mock Genetic Counseling Session: Autism and Developmental Delay
Genetic Counselor Miranda Di Biase and students Claire Zimlinghaus and Joy Lin perform a mock pediatric genetic counseling session where genetic testing for a child who has autism and developmental delay is explored.
#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.
#326 How DNA Solves Crimes: The Forensic Science Behind True Crime
Dr. Henry Erlich on DNA Evidence, Exonerations, and Ethical Dilemmas.
#325 Revolutionizing Variant Curation with MAVEs
Drs. Fowler and Starita explain how multiplexed assays of variant effect are helping to curate variants. Fast.
#324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists)
Dr. Josiah Allen explains how genetic mutations (like RET) influence the safety of GLP-1 agonists like Ozempic and Wegovy.
#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.
#321 Reuniting Amerasian Families: John Haines' Story & Father Founded's Mission
Discover the powerful work of Father Founded and the inspiring story of one man's search for his daughter.
#320 Genetics in Neuromuscular Disorders: Diagnosis and Treatment with Dr. Robert Bucelli
“It Happened To Me” episode featuring Dr. Robert Bucelli on the role of genetics in diagnosing and treating neuromuscular disorders.
#319 New CPT Code 96041 Explained: 2025 Billing for Genetic Counselors
Learn from Dr. Colleen Campbell and Brian Reys how the new code will transform billing for genetic counselors and streamline the service.
#318 Genetics Wrapped 2024: Top Advances in Genomic Medicine
Drs. Eric Green and Bruce Gelb join our host Kira Dineen for our annual reflection and recap on the biggest genetics/genomics advancements this year!
#317 Prenatal Mock Genetic Counseling Session
Genetic counselor Kira Dineen and student Annette Grynspan perform a mock prenatal genetic counseling session.
#316 Cascade Genetic Testing: How “Connect My Variant” Empowers Families
Dr. Brian Shirts and Katy Meta explore how cascade genetic testing empowers families to prevent hereditary conditions.
#315 Preventing Sudden Cardiac Death via Genetics with Drs. Liebman & McNally
Dr. Susan Liebman’s powerful new book, The Dressmaker's Mirror, reflects on her family’s tragedies and how genetic insights can prevent cardiac sudden death and save lives.