GeneticsDiagnostic and genetic testing
- Tay Sachs Overview and Diagnosis Challenges
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Tay-Sachs disease, a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
- NIH to Accelerate Genetic Therapies for Sickle Cell Disease
The National Institutes of Health (NIH) today announced the launch of a new initiative to help speed the development of cures for sickle cell disease, a group of inherited blood disorders affecting at least 100,000 people in the United States and 20 million worldwide.
- New Biomarker Panel Could Accelerate Autism Diagnoses
Investigators at the UC Davis MIND Institute and NeuroPointDX, a division of Stemina Biomarker Discovery, have identified a group of blood metabolites that could help detect some children with autism spectrum disorder (ASD).
- Dr. David Birch Explains X-Linked Retinoschisis (XLRS)
David Birch, PhD, Scientific Director at the Retina Foundation discusses X-linked retinoschisis (XLRS) is an inherited early onset retinal degenerative disease caused by mutations in the RS1 gene. It is the leading cause of juvenile macular degeneratio …
- 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.