by CheckRare Staff | Jun 23, 2023
Jordi Duran, PhD, Associate Professor at Institut Químic de Sarrià in Barcelona, and Niki Markou, parent of a child with Lafora disease, discuss the symptoms and pathophysiology of Lafora Disease. Lafora disease is a rare neurodegenerative condition that...
by CheckRare Staff | Jun 22, 2023
Jordi Duran, PhD, Associate Professor at Institut Químic de Sarrià in Barcelona, and Niki Markou, parent of a child with Lafora disease, discuss the documentary Fighting the Rare. Brothers Jordi and Jaume Duran created the documentary “Fighting the...
by Madaline Spencer | Jun 19, 2023
Staci Kallish, DO, a medical geneticist at Penn Medicine explains the difference between a geneticist and a genetic counselor. A geneticist is a physician trained in the identification and management of genetic conditions, either through genetic residency...
by CheckRare Staff | Jun 16, 2023
Alexandra Gaudlap, the founder of VAMP2.org and the Raging Raymond Foundation, discusses her son’s VAMP2 diagnostic journey. VAMP2 stands for vesical-associated membrane protein 2. The VAMP2 gene encodes it. The protein is expressed in neurons and is...
by Madaline Spencer and Peter Ciszewski | Jun 15, 2023
Pierantonio Russo, MD, Chief Medical Officer at Eversana, discusses the expanding role artificial intelligence (AI) plays in the diagnostics of rare conditions. As noted by Dr. Russo, diagnostic delays are expected in rare diseases due to many factors....
