by CheckRare Staff | Mar 19, 2026
SMA in Focus: Practical Insights from MDA 2026Key data updates, therapeutic strategies, and evolving standards of care in spinal muscular atrophy Early Screening and Treatment Effects on Motor Function in SMA CheckRare conducted a joint interview with two key opinion...
by CheckRare Staff | Mar 13, 2026
First described in 1956,[1] Prader–Willi syndrome is a complex genetic condition that is characterized by hyperphagia (unremitting, chronic overeating) with accompanying endocrine, cognitive, and sensory deficits.{2] Its symptoms evolve from severe hypotonia and...
by CheckRare Staff | Feb 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 | Feb 23, 2026
Sophia Ceulemans, MS, Medical Science Liaison at GeneDx offered a high-level overview of the problem of unexplained epilepsy and the rapidly advancing field of genetic testing for this challenging disorder. Ms. Ceulemans co-authored the current guidelines from the...
by CheckRare Staff | Feb 20, 2026
PRIMA Clinical Trial Bradley J. Monk, MD, Medical Director, Florida Cancer Specialists and Research Institute, West Palm Beach, and Founder of GOG Partners, discusses the clinical advances in the treatment of ovarian cancer, including research using PARP inhibitors,...
