by CheckRare Staff | Jul 1, 2026
An Expert Panel on the Evolution of SMA Care Spinal muscular atrophy (SMA) has undergone a remarkable transformation over the past decade. Drs. Nancy Kuntz, Alicia Henriquez, and Angela Lek discuss how advances in disease-modifying therapies have fundamentally changed...
by CheckRare Staff | Jul 1, 2026
Congenital adrenal hyperplasia (CAH) is a group of rare autosomal, recessive genetic disorders that impair production of cortisol (also known as hydrocortisone).[1,2] The hypothalmus and pituitary gland are prompted to overproduce corticotropin-releasing hormone (CRH)...
by CheckRare Staff | Jun 24, 2026
Plasminogen is a precursor protein that is converted into plasmin. Plasmin is crucial to break down fibrin, the main protein component of blood clots.[1] When the body does not produce sufficient plasminogen or does not produce adequate active plasminogen, fibrin can...
by CheckRare Staff | Jun 17, 2026
Lauren Shea, MD, Assistant Professor of Hematology and Oncology, University of Alabama, Birmingham, discusses important aspects of medical treatment and stem-cell transplantation in patients with cutaneous T-cell lymphoma (CTCL). When faced with a...
by CheckRare Staff | Jun 11, 2026
Mitchell Geffner, MD, Co-Director, Congenital Adrenal Hyperplasia Clinic, and Ron Burkle Chair, Center for Endocrinology, Diabetes, and Metabolism, Children’s Hospital of Los Angeles, discusses the etiology, diagnosis, and management of pediatric adrenocortical...
