Gary Joseph Lelli, MD, of the Department of Ophthalmology at Weill Cornell Medicine talks about thyroid eye disease due to Graves’ disease, including which clinicians are most likely to diagnose this condition and the most common symptoms in this highly variable rare condition.
Norman Putzki, MD, Novartis, discusses positive safety and efficacy data for OAV101 IT, an investigational gene therapy for SMA.
Dr. Sonal Kumar, discusses the integral role of the patient voice in navigating disease progression and determining an individualized care plan for people living with…
Gavin Lindberg details his family’s experience with neuroblastoma, provides advice to families, and discusses the EVAN Foundation.
Tenosynovial giant cell tumor (TGCT) is a rare benign tumor involving the joint synovium, bursae, and tendon sheath.
Daniel DeFabio, Global Genes and rare disease father, discusses Global Genes’ patient and advocate initiatives.
Sonia Gobeil, discusses their organization and ongoing research for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Jean Elwing discusses PAH research leading to better management of people with Pulmonary Arterial Hypertension
Drs. Patrick McKiernan and Nadia Ovchinsky discuss the recently published guidance on best practices to diagnose, treat, and monitor patients with progressive familial intrahepatic cholestasis…
This educational webinar on fibrodysplasia ossificans progressiva (FOP), hosted by Ellen Elias, MD and Christiaan Scott, MD, examines best practices to suspect and diagnose this…
Dean Suhr, President and co-founder of the MLD Foundation, discusses newborn screening updates and plans for gaining RUSP approval.
