by CheckRare Staff | Jun 8, 2026
Julia Scarisbrick, MD, MBhons, ChB, FRCP, is one of the leaders of the PROCLIPI (Prospective Cutaneous Lymphoma International Prognostic Index) study, a registry of patients with cutaneous T-cell lymphoma (CTCL). Dr. Scarisbrick, Professor of Dermatology, Department...
by CheckRare Staff | Jun 2, 2026
Christopher Romero, MD, a pediatric endocrinologist at Mount Sinai Medical Center, New York City, and Associate Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai discusses arginine vasopressin deficiency. The name of the rare disease central...
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...
