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 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 CheckRare Staff | Jun 8, 2023
Brittany Cudzilo, a parent of two children with galactosemia, describes her daughter’s experience in a clinical trial testing a new treatment for this rare condition. Galactosemia is a rare, autosomal recessive, inborn error of metabolism. It is characterized by the...
by CheckRare Staff | Jun 7, 2023
Brittany Cudzilo, Vice President of the Galactosemia Foundation, and parent of two children with galactosemia, describes this rare condition and the impact it has had on their family. Galactosemia is a rare, genetic, metabolic disorder that affects an...
by CheckRare Staff | May 23, 2023
Progressive familial intrahepatic cholestasis (PFIC) is a group of rare genetic diseases that result in reduced bile flow from the liver, also called cholestasis. It commonly presents in infants and early childhood. First identified in 1965, the genetic dysfunction in...
