by Peter Ciszewski | May 27, 2022
Richard Poulin, father of a young girl with aromatic L-amino acid decarboxylase (AADC) deficiency, discusses the importance of an early diagnosis of the ultra-rare condition. AADC deficiency is a rare genetic disorder that affects the nervous and...
by Peter Ciszewski | May 25, 2022
Edward Neilan, MD, PhD, Chief Scientific and Medical Officer at the National Organization for Rare Disorders (NORD), discusses how the NORD Rare Disease Centers of Excellence has already identified 11 potential working groups that could tackle unmet needs...
by Peter Ciszewski | May 24, 2022
James Howard Jr, MD, Distinguished Professor of Neuromuscular Disease and Professor of Neurology and Medicine at UNC School of Medicine, discusses the need to better educate physicians about myasthenia gravis. Myasthenia gravis is a chronic autoimmune...
by Peter Ciszewski | May 21, 2022
Today, the US Food and Drug Administration (FDA) approved dupilumab (Dupixent) to treat eosinophilic esophagitis (EoE) in patients 12 years and older weighing at least 40 kilograms (approximately 88 pounds). This is the first treatment to be FDA approved for this...
by Peter Ciszewski | May 20, 2022
Priya Kishnani, MD, Chief, Division of Medical Genetics and Professor of Pediatrics at the Duke University School of Medicine, discusses the need for a team approach to care for Pompe disease. Pompe disease is a rare inherited lysosomal storage disorder...
