Rare and Genetic Disease Network
Mitochondrial genetic disorders refer to a group of conditions that affect the mitochondria (the structures in each cell of the body that are responsible for making energy).
BioMarin Pharmaceutical dosed the first participant in their global phase 2 study for vosoritide, an analog of C-type Natriuretic Peptide (CNP), in infants and young children with achondroplasia.
Lara Sullivan, MD, President and Founder at SpringWorks Therapeutics discusses Hereditary Xerocytosis, a genetic disorder in which red blood cells become dehydrated due to loss of potassium and cell water.
The U.S. Food and Drug Administration has granted Orphan Drug Designation to AMO Pharma for it’s investigational therapy called AMO-04 for the treatment of Rett syndrome, a rare childhood neurodevelopmental disorder.
Rhythm Pharmaceuticals announced that it has completed enrollment of the pivotal cohorts of 10 patients in two separate, ongoing, registration-enabling Phase 3 clinical trials evaluating setmelanotide in pro-opiomelanocortin (POMC) and leptin receptor (LEPR) deficiency obesity.
Roxana Sulica, MD, Associate Professor, Department of Medicine and Director, Pulmonary Hypertension at NYU Langone in New York City discusses some of the emerging tretment options for pulmonary arterial hypertension (PAH).
As clinical trials gear up with the aim of attaining the first FDA-approved treatments for mitochondrial disease, a new study reports for the first time what patients and families say would motivate them for or against participating in such research trials. Mitochondrial genetic disorders refer to a group of conditions that affect the mitochondria (the structures in each cell of the body that are responsible for making energy).
Daniel de Boer, Founder and CEO of ProQR, discussuses Usher syndrome, a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa.
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Mucopolysaccharidosis type I (MPS I).
Mr. Robert (Bob) E. Ward, Chairman of the Board and Chief Executive Officer of Eloxx Pharmaceuticals provides an overview of his company and it’s focus on cystic fibrosis.
The Food and Drug Administration (FDA) granted approval to venetoclax for patients with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL), with or without 17p deletion, who have received at least one prior therapy.
Chris Garabedian discusses his new compay, Xontogeny, a biotech aggregator with a differentiated business model to support the accelerated development of life science technologies in the pursuit of helping patients with serious diseases.