Atticus Shaffer of The Middle on ABC discusses life with osteogenesis imperfecta and his acting career.
All in Rare Disease
#188 Propionic and Methylmalonic Acidemia with HemoShear Therapeutics
Patient advocate, Bryan Kelly, & HemoShear CMO, Dr. Pat Horn, discuss life with Proprionic and Methylmalonic Acidemia and an investigational therapy.
#186 n-Lorem: Nano-Rare Diseases with Luke Rosen and Wendy Chung
First episode of the N-Lorem Foundations’ “Patient Empowerment Program” features an actor turned patient advocate and a pediatric geneticist.
#173 GRIN1 with Keith McArthur
Keith McArthur shares about his son Bryson’s GRIN1 rare disease diagnosis and his family's experience connecting with others in the community.
#172 PhenoTips: Advances in Rare Disease Diagnosis
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.
#171 Farber Disease with Aceragen
In honor of Rare Disease Month we explore Farber Disease with Dr. Alex Solyom and Katie Crosby of Aceragen.
#170 Mitochondrial Disorders with Alejandro Dorenbaum
Investigational therapies for primary mitochondrial myopathy are discussed with Dr. Alejandro Dorenbaum in honor of rare disease month.
#163 Rachel Pastiloff & Krystle Davis On Prader-Willi Syndrome
A mother/advocate and a researcher share their unique insights on Prader-Willi Syndrome.
#156 Rich Horgan on Duchenne Muscular Dystrophy (DMD)
The Founder and President of Cure Rare Disease discusses treatments for Duchenne Muscular Dystrophy.
#152: Janice Berliner on Brooke's Promise
Genetic counselor and author Janice Berliner shares about the fertility and pediatric genetic counseling aspects in her novel, Brooke’s Promise.
#149 CF Series: Gunnar Esiason on Patient Advocacy
Rare disease patient leader shares about his journey with cystic fibrosis and how he utilizes his experience to advocate for the community.
#141 Stan Crooke on Ultra Rare Disease Drugs
Biotech titan Dr. Stan Crooke, who developed 20+ drugs, shares about his new n-Lorem Foundation.
#140 Patti Hall on Gigantism
Author of “Loving Large” shares her son’s rare disease diagnostic odyssey.
#115 Dr. Daria Julkowska on The European Joint Program on Rare Diseases
Celebrate Rare Disease Month with the Coordinator of the EJPRD discussing rare disease research.
#102 Seth Rotberg on Huntington Disease
Patient Advocate and Motivational Speaker shares his journey with Huntington Disease.
#98 Lydia Seiders on Aplastic Anemia
Maryland State Ambassador for NORD brings her passion for patient advocacy for the rare disease community including her daughter known as #EmmaStrong.
#96 Jim Cavan on Backpack Health
A mobile and cloud-based app that helps people with chronic, serious and rare health concerns better manage their health journeys.
#95 Kieger Family on Familial Adenomatous Polyposis
Author Laura Kieger and her son, Dr. Alexander Kieger, share their family’s courageous, century-long struggle with a rare genetic cancer syndrome.
#93 Team Telomere
A community for telomere biology disorders discusses dyskeratosis congenita.
#77 Rare Disease Day 2018
Recap of CT’s event and interviews with Angelman Syndrome and ALD patient advocates