GeneticsDiagnostic and genetic testing
- Sickle Cell Trait Increases Risk for Some Health Conditions
In the United States, an estimated 2.5 to 3 million people have a gene variant associated sickle cell trait (SCT) and most never have related health complications. Researchers have now identified three health conditions for which people with SCT are at increased risk.
- Dravet Syndrome Overview
Barry Ticho, MD, Chief Medical Officer at Stoke Therapeutics, provides an overview of Dravet syndrome, a severe form of epilepsy that is part of a group of diseases known as SCN1A-related seizure disorders.
- Partnerships Between Genetic Testing Companies and Drug Developers
Katherine Stueland, Chief Commercial Officer at Invitae, discusses how genetic testing companies partner with drug developers, including her company’s work with Alnylam.
- The Important Role of Diagnostic Companies in Rare Diseases
Katherine Stueland, Chief Commercial Officer at Invitae, discusses the roles of genetic companies in assisting patients and physicians in diagnosing rare diseases.
- 22q11.2 Deletion Syndrome
Bernice Morrow, PhD, Director of Translational Genetics, Albert Einstein College of Medicine, talks about the challenges of developing treatments for 22q11.2 deletion syndrome, a disorder caused by the deletion of a small piece of chromosome 22.
- The Link Between Lipds and the Origin of Myelomas
Dr. Pramod Mistry discusses the link between lipids and the origin of myelomas, a type of cancer affecting plasma cells. Multiple myeloma is a cancer involving the growth of plasma cells, which are immune cells that make antibodies to fight infection.
- 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 …