GeneticsDiagnostic and genetic testing
- Baebies: A New Born Screening Company
Richard West, Founder and CEO of Baebies, a newborn testing diagnostic company, provides an overview of his platform.
- Sanfilippo Syndrome (MPS III) Overview
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome.
- Progressive Familial Intrahepatic Cholestasis (PFIC) Overview
Ron Cooper, President and CEO of Albireo, provides and overview of progressive familial intrahepatic cholestasis (PFIC), a rare genetic condition that affects the liver. PFIC is estimated to affect between one in every 50,000 to 100,000 children born worldwide and causes progressive, life-threatening liver disease.
- FDA Grants Fast Track Designation to CUTX-101 for Classic Menkes Disease
The U.S. Food and Drug Administration (FDA) granted Fast Track Designation to Cyprium Therapeutics’ Copper Histidinate, (CUTX-101), for patients diagnosed with classic Menkes disease who have not demonstrated significant clinical progression.
- Morquio and Maroteaux-Lamy Syndrome (MPS IV and VI) Overview
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City provides an overview of Mucopolysaccharidosis type IV and VI (MPS IV and VI). Mucopolysaccharidosis type IV is also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton.
- Hunter Syndrome (MPS Type II) Overview
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome.
- Alexion Submits BLA For Priority Review And Approval Of ALXN1210
Alexion Pharmaceuticals has submitted a Biologics License Application (BLA) to the YOU.S. Food and Drug Administration (FDA) for approval of ALXN1210 for the treatment of patients with paroxysmal nocturnal hemoglobinuria (PNH), an ultra-rare, potentially deadly disease of the blood.T
- Patient-Centric Perspective Offers Key Insights into Upcoming Mitochondrial Treatment Studies
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).
- FDA Approves Palynziq for PKU, a Rare Genetic Disease
The U.S. Food and Drug Administration today approved Palynziq (pegvaliase-pqpz) for adults with a rare and serious genetic disease known as phenylketonuria (PKU). Patients with PKU are born with an inability to break down phenylalanine (Phe), an amino …
- Overview of Lysosomal Storage Disorders
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses lysosomal storage diseases, a group of inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies.