by CheckRare Staff | Mar 25, 2026
Cem Akin, MD, PhD, Professor, Allergy and Immunology at the University of Michigan, discusses with CheckRare systemic mastocytosis, and the results of the phase 2 PIONEER study, which tested the tyrosine-kinase inhibitor avapritinib (Ayvakit) against placebo in...
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...
