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.

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.

JScreen Genetic Counselor Karen Grinzaid explains the options for genetic testing for cancer risk and the chance to have a biological child with a genetic condition.

A glaucoma surgeon and Wilmer Johns Hopkins researcher shares about risk factors, development, and screening for glaucoma.

Dr. Sarah Gladstone joins the show to share her perspective of Wolfram Syndrome being a parent of a child with the condition and a physician.

Genetic Counselor, and our podcast co-producer, Kira Dineen shares her insight on when to pursue genetic counseling and how genetic counselors can help people in the rare disease community.