GeneticsDiagnostic and genetic testing
- Angelman Syndrome Overview
Amit Rakhit, MD, Chief Medical and Portfolio Officer at Ovid Therapeutics, provides an overview on Angelman syndrome. Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition i …
- Pompe Disease: Overview, Diagnosis Challenges, Treatments, and Emerging Therapies
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Pompe disease, an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells.
- Novel Therapy for Cystic Fibrosis Completes Phase 2 Trial
Greg Duncan, President and Chief Executive Officer of Celtaxsys, provides an overview of cystic fibrosis (CF), an inherited chronic disease that affects the lungs and digestive system of about 70,000 children and adults worldwide.
- FDA Approves New Prophylactic Drug for Rare Hereditary Angioedema
The U.S. Food and Drug Administration (FDA) approved lanadelumab (Takhzyro), the first monoclonal antibody to help prevent attacks of hereditary angioedema (HAE) in patients aged 12 years and older with types I and II of the disease. HAE is a rare and …
- Focus on Cystinosis
Mr. Robert (Bob) E. Ward, Chairman of the Board and Chief Executive Officer of Eloxx Pharmaceuticals provides an overview of Cystinosis, an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells.
- Working With Rare Nerogenetic Disorders
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses her experience working with rare diseases and neurogenetics.
- FDA Allows Use of Kalydeco in Children Under Two Years Old
The U.S. Food and Drug Administration (FDA) has approved ivacaftor (KALYDECO) to be used in children with cystic fibrosis ages under the age of 2 years old who have at least 1 mutation in their cystic fibrosis transmembrane conductance regulator (CFTR) gene that is responsive to the drug.
- Dup15q Syndrome Research
Vanessa Vogel-Farley, Executive Director, Dup15q Alliance discusses her Alliance and some of the research for Dup15q syndrome, the common name for chromosome 15q11.2-q13.1 duplication syndrome.
- Baebies: Newborn Screening Platforms
Richard West, Founder and CEO of Baebies, a newborn testing diagnostic company. In this video, Mr West discusses the company’s two main platforms.
- Correlation Between NIHF and MPS VII
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses the correlation between non-immune Hydrops fetalis (NIHF) and MPS VII.