by Madaline Spencer | May 9, 2025
Daniel DeFabio, Director of Community Engagement and Education at Global Genes, Co-Founder of Disorder: The Rare Disease Film Festival, and rare disease father, discusses Global Genes’ patient and advocate initiatives. Global Genes is an organization...
by Madaline Spencer | May 8, 2025
Sonia Gobeil, co-founder of Ataxia of Charlevoix-Saguenay Foundation, discusses their organization and ongoing research for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ARSACS is a rare neuromuscular disorder characterized by...
by Madaline Spencer | May 5, 2025
Dean Suhr, President and co-founder of the MLD Foundation, discusses newborn screening updates and plans for gaining recommended uniform screening panel (RUSP) approval. As noted by Mr. Suhr, the recent termination of the Advisory Committee on Heritable...
by Madaline Spencer | May 2, 2025
The U.S. Food and Drug Administration (FDA) has approved Imaavy (nipocalimab) for the treatment of generalized myasthenia gravis (MG). The approval is for patients, 12 years of age and older, with anti-acetylcholine receptor (AChR) or anti-muscle-specific kinase...
by Madaline Spencer | May 1, 2025
Nicola Longo, MD, PhD, Professor and Chief of Division of Clinical Genetics at the University of California, Los Angeles, discusses data presented at the 2025 ACMG Annual Clinical Genetics Meeting highlighting the benefits of sepiapterin in patients with classical...
