#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.
#7 Prenatal and Cancer Genetic Testing with Karen Grinzaid
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.
#6 Glaucoma with Dr. Mona Kaleem
A glaucoma surgeon and Wilmer Johns Hopkins researcher shares about risk factors, development, and screening for glaucoma.
#5 Wolfram Syndrome with Dr. Sarah Gladstone
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.
#4 Genetic Counseling for Rare Diseases with Kira Dineen
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.