New podcast launch! Check out the first episode of the official Journal of Genetic Counseling Podcast, “DNA Dialogues”.
All tagged rare disorders
Episode drop of “It Happened To Me” focusing on the rare disease Wolfram Syndrome.
Episode drop of “It Happened To Me” exploring the genetics of rare optic neuropathies.
Dr. Julian Barwell shares insight on the 100,000 Genomes Project and how digital pedigrees are essential to the project and healthcare.
The robust processes to evaluate applications to n-Lorem’s nano-rare patient treatments.
Amber Olsen and Faith McGown of the United MSD Foundation discuss Multiple Sulfatase Deficiency.
Podcast host and rare disease advocate, Effie Parks, chats about her son Ford who has CTNNB1 Syndrome.
Patient advocate, Bryan Kelly, & HemoShear CMO, Dr. Pat Horn, discuss life with Proprionic and Methylmalonic Acidemia and an investigational therapy.
First episode of the N-Lorem Foundations’ “Patient Empowerment Program” features an actor turned patient advocate and a pediatric geneticist.
Keith McArthur shares about his son Bryson’s GRIN1 rare disease diagnosis and his family's experience connecting with others in the community.
Drs. Stephen Kingsmore, Marshall Summar, and Ellen Thomas join Dr. Pawel Buczkowicz to discuss the diagnostic odyssey in this installment of the PhenoTips Speaker Series.
In honor of Rare Disease Month we explore Farber Disease with Dr. Alex Solyom and Katie Crosby of Aceragen.
Investigational therapies for primary mitochondrial myopathy are discussed with Dr. Alejandro Dorenbaum in honor of rare disease month.