by CheckRare Staff | May 31, 2026
June is CAH Awareness Month, a time dedicated to increasing understanding of congenital adrenal hyperplasia (CAH) and supporting the individuals and families impacted by this rare genetic condition. CAH affects the adrenal glands and can interfere with the body’s...
by CheckRare Staff | May 27, 2026
John Day, MD, PhD, Director of Neuromuscular Medicine at Stanford University, discusses the development of Itvisma gene therapy for patients with spinal muscular atrophy (SMA). SMA is a group of genetic neuromuscular disorders that affect the motor...
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
Staci Kallish, DO, 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...
