Scientists at the Icahn School of Medicine at Mount Sinai and collaborators have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect.

Each year, the ACMG Foundation for Genetic and Genomic Medicine grants its Next Generation Fellowship awards to promising early career professionals in a range of medical genetics and genomics ...

Myriad Genetics, Inc. announced that its MyRisk® Hereditary Cancer Test with RiskScore® was recognized in the American Journal of Human Genetics as one of the top 10 significant advances in genomic ...

The American College of Medical Genetics and Genomics has just published its highly anticipated Evidence-Based Clinical Guideline (EBG): “Phenylalanine Hydroxylase (PAH) Deficiency Diagnosis and ...

SALT LAKE CITY, Jan. 29, 2025 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc (MYGN). (NASDAQ: MYGN), a leader in genetic testing and precision medicine, today announced it will unveil groundbreaking ...

Thousands of children with severe developmental disorders have benefited from more targeted treatments and support with genetic insights from the large-scale Deciphering Developmental Disorders (DDD) ...

Technological advances, higher chronic disease prevalence, a greater focus on personalized healthcare, AI and big data, and regulatory changes, including orphan drug market expansions, have bolstered ...

An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing. The study, conducted ...

Adding genetic testing to the evaluation of pediatric patients with neurodevelopmental disorders (NDD) resulted in more individualized care. Adding genetic testing to the evaluation of pediatric ...

Peer-reviewed publication examines the benefits of proactive exome reanalysis on diagnostic outcomes Ambry Genetics’ Patient for Life program is supported by a dedicated team of scientists who ...