by Peter Ciszewski | Dec 9, 2021
Daniela Rogoff, MD, PhD, Vice President of Clinical Development at QED Therapeutics, a BridgeBio Company, gives an overview of achondroplasia. As Dr. Rogoff explains, achondroplasia is a skeletal dysplasia characterized by the failure of normal conversion of...
by Peter Ciszewski | Dec 9, 2021
Jerry Vockley, MD, PhD, Head of the Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh, gives an update on the phase 2 trial testing SYNB1618 to treat phenylketonuria (PKU). PKU is a rare genetic metabolic disorder that results in reduced...
by Peter Ciszewski | Dec 8, 2021
Jeroen Valkenburg, General Manager of the Lumasiran program at Alnylam Pharmaceuticals, discusses the reaction of the primary hyperoxaluria type 1 (PH1) community following the approval of lumasiran last November. PH1 is a rare genetic condition that is often...
by Peter Ciszewski | Dec 7, 2021
Bradley Galer, MD, Chief Medical Officer at Zogenix, provides an overview of thymidine kinase 2 deficiency (TK2d). TK2d, as Dr. Galer explains, is an ultra rare genetic mitochondrial disease characterized by progressive myopathy, often leading to difficulty...
by Peter Ciszewski | Dec 6, 2021
Henk Schuring, Chief Regulatory and Commercialization Officer at Prilenia Therapeutics, discusses the PROOF-HD Huntington disease clinical trial, which has completed its patient enrollment ahead of schedule. Huntington disease is an inherited, neurodegenerative...
