Spinal muscular atrophy (SMA) is a rare inherited neuromuscular disorder caused by an inadequate level of the survivor motor neuron (SMN) protein due to mutations in the SMN1 gene. The SMN protein appears to play a role in regulating small nuclear ribonucleoproteins complexes, and while its exact function remains unclear, the absence of the SMN …
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.
The role of neonatal fragment crystallizable receptor (FcRn) in myasthenia gravis (MG) and treatment options
