Author and advocate Tanita Allen shares about the delay in her accurate diagnosis of Huntington’s Disease and living with the condition.

Charismatic Colleen Gioffreda shares her experience living with dwarfism including her roles at Johns Hopkins, Little People of America, and as a mother.

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

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.

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

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.