A follow up interview to our most streamed episode of 2023 to explore how AI can be used as a tool to prioritize or curate variants from genetic testing.
All in Rare Disease
A follow up interview to our most streamed episode of 2023 to explore how AI can be used as a tool to prioritize or curate variants from genetic testing.
Episode drop of It Happened To Me with parents of a child with Bardet Biedl Syndrome, a rare disease affecting vision, obesity, extra fingers/toes and other symptoms.
Rare disease advocate, Felicia Morton, and genetic counselor, Torry Howell, join us to talk about inborn errors of immunity including chronic granulomatous disease.
Researchers, Dr. Aimée Dudley and Dr. Andrea Gropman, and patient advocate, Tresa Warner, discuss the most common urea cycle disorder.
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.
World-renowned geneticist, Madhuri Hegde, and Genetic counselor, Ann Martin discuss the genetics of Duchenne Muscular Dystrophy (DMD) and potential treatments.
Mitochondrial experts Devin Shuman and Lissa Poincenot discuss Leber Hereditary Optic Neuropathy.
Atticus Shaffer of The Middle on ABC discusses life with osteogenesis imperfecta and his acting career.
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.
A mother/advocate and a researcher share their unique insights on Prader-Willi Syndrome.
The Founder and President of Cure Rare Disease discusses treatments for Duchenne Muscular Dystrophy.
Genetic counselor and author Janice Berliner shares about the fertility and pediatric genetic counseling aspects in her novel, Brooke’s Promise.