by CheckRare Staff | Jan 11, 2022
Sihoun Hahn, MD, Director of the Wilson Disease Center of Excellence at Seattle Children’s Research Institute, discusses the diagnosis and management of Wilson disease. Wilson disease is a genetic disorder caused by mutations on the ATP7B gene. These mutations...
by CheckRare Staff | Jan 11, 2022
Monica Fay, PharmD, Senior Vice President of Global Medical Affairs at Apellis Pharmaceuticals, discusses recent data from the PRINCE study, a phase 3 study of pegcetacoplan in patients with paroxysmal nocturnal hemoglobinuria (PNH). PNH is a rare,...
by CheckRare Staff | Jan 1, 2022
A group of leading experts in pediatric neurology and movement disorders attended a virtual roundtable to discuss diagnostic, symptomatic, and research aspects of aromatic L-amino acid decarboxylase (AADC) deficiency. AADC deficiency is characterized by a...
by CheckRare Staff | Dec 29, 2021
Evan S. Dellon, MD, MPH, Gastroenterologist, and Professor of Medicine and Adjunct Professor of Epidemiology at the University of North Carolina Chapel Hill, gives an overview of the symptoms of eosinophilic esophagitis (EoE). As Dr. Dellon explains, EoE is a...
by CheckRare Staff | Dec 27, 2021
Kevin and Amy Young, parents of a young boy named Jack with KAT6A syndrome, talk about their son’s diagnostic journey. KAT6A syndrome is an ultra-rare genetic condition due to a mutation in the KAT6A gene. KAT6A syndrome patients vary widely in terms of...
