by CheckRare Staff | May 15, 2026
Emmanuel Mignot, MD, PhD, is one of the pioneers in the study of narcolepsy and served a vital role in discerning the genetic cause of this rare and underdiagnosed disorder. Dr. Mignot, Professor of Sleep Medicine in the Department of Psychiatry and Behavioral...
by CheckRare Staff | Apr 22, 2026
Merlin G. Butler, MD, Medical Geneticist and Professor, Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, and one of the pioneers in Prader–Willi syndrome research, discusses the clinical features of...
by CheckRare Staff | Apr 18, 2026
Stacey Kallish, MD, Clinical Geneticist at Penn Medicine in Philadelphia, is helping to lead a new wave of innovation at the intersection of artificial intelligence (AI) and rare disease care. With a clinical focus on lysosomal storage diseases (LSDs)—including Fabry...
by CheckRare Staff | Apr 16, 2026
In this expert-led discussion, the faculty examine how advances in rational drug design are translating into meaningful clinical impact, with a particular focus on pegunigalsidase alfa and its emerging role in patient care for Fabry disease. João Gonçalves, PhD...
by CheckRare Staff | Apr 1, 2026
Narcolepsy is a chronic disorder characterized by excessive daytime sleepiness (EDS); it can be associated with significant sleep disturbance and functional impairment, resulting in increased risk of disability, negative quality of life, and impaired...
