#48 Sudden Cardiac Death with The Dressmaker’s Mirror’s Dr. Susan Liebman
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.
#42 Huntington’s Disease with Tanita Allen
Author and advocate Tanita Allen shares about the delay in her accurate diagnosis of Huntington’s Disease and living with the condition.
#41 Dwarfism with Colleen Gioffreda
Charismatic Colleen Gioffreda shares her experience living with dwarfism including her roles at Johns Hopkins, Little People of America, and as a mother.
#39 Genetic Testing for Rare Diseases with Amy Patterson
Genetic Counselor Amy Patterson shares about genetic screening and testing available for rare disease including her speciality of skeletal dysplasia.
#34 Bloom Syndrome with The Yasbins
Parent and Rare Disease Advocates share their son’s diagnosis odyssey with Bloom Syndrome.
#33 Tay-Sachs and Grief with Myra Sack
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.
#32 Tay-Sachs and Carrier Screening with Dr. Matthew Goldstein
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.
#26 Wolfram Syndrome Expertise from Dr. Fumihiko Urano
Dr. Fumihiko Urano shares his world renowned expertise from leading the clinical, translational, and interventional studies of Wolfram syndrome and related disorders.
#12 Bardet Biedl Syndrome with The Alms (Part 2)
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.
#11 Bardet Biedl Syndrome with The Alms (Part 1)
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.