Genetic Counselor Amy Patterson shares about genetic screening and testing available for rare disease including her speciality of skeletal dysplasia.

The Founder of the Stiff Person Syndrome Research Foundation shares her personal journey with the rare and debilitating autoimmune disorder.

The co-founder of Congenital Hyperinsulinism International (CHI) shares her son’s diagnosis and teaches us about the condition.

Parent and Rare Disease Advocates share their son’s diagnosis odyssey with Bloom Syndrome.

A mother opens up about the death of her daughter from Tay-Sachs disease and how it lead to writing her memoir, Fifty-Seven Fridays.

A physician-scientist father shares his heartbreaking story of the death of his daughter who was diagnosed with Tay-Sachs disease and how it motivated him to become the CEO of JScreen to prevent this experience in other families.

Experts from Terumo Blood and Cell Technologies share information about the patient experience of blood transfusions.

Celebrate Rare Disease month in this episode with the President and Founder of Rare Patient Voice.

Dr. Apkek, internationally renowned leader in the fields of corneal transplantation and surface reconstruction, shares her expertise in these areas.

Internationally renowned leader in the fields of corneal transplantation and surface reconstruction, Dr. Apkek, shares her insight on dry eye.

Caren Forsten and Sean Curry share low vision and blindness resources.

Dr. Fumihiko Urano shares his world renowned expertise from leading the clinical, translational, and interventional studies of Wolfram syndrome and related disorders.

Pat Gibilisco is Patient Advocacy Liaison for the Snow Foundation for Wolfram Syndrome research. In 2021, her daughter Lauren died from Wolfram Syndrome in her mid-30s.

We learn about the genetic conditions Familial Dysautonomia with three lovely guests: Lanie Etkind, Rita Taryan, and Keshi Taryan-Kigel.

Patient advocate and genetic counseling student Corinne Merlino shares about her rare congenital birth defect that affects craniofacial development.

Social worker Tamara Blum shares her personal experience being a single mom of 6 children, 5 surviving children include a son with Hattersley-Urano subtype of Wolfram Syndrome.

In this podcast episode, Parents Bonnie and Will Alms share their son's diagnostic odyssey with Bardet Biedl Syndrome. Everett’s condition is a rare genetic disorder. People may suffer symptoms that include retinal degeneration, obesity, reduced kidney function, extra digits of the hands or feet, as well as many other manifestations.

In this podcast episode, Parents Bonnie and Will Alms share their son's diagnostic odyssey with Bardet Biedl Syndrome. Everett’s condition is a rare genetic disorder. People may suffer symptoms that include retinal degeneration, obesity, reduced kidney function, extra digits of the hands or feet, as well as many other manifestations.

In this 30 minute podcast episode, Dr. Judith Goldstein shares her insight on low vision as an Associate Professor of Ophthalmology and the Chief of the Low Vision and Rehabilitation Department at Wilmer Johns Hopkins.

Stephanie Gebel Snow shares her perspective as a patient advocate creating the Snow Foundation for Wolfram Syndrome research.