A genetic change or variant in a gene called SCN2A is a known cause of infantile seizures, autism spectrum disorder, and intellectual disability, as well as a wide range of other moderate-to-profound impairments in mobility, communication, eating, and vision ..read more

A team of clinician-scientists have conducted the largest study done to date of BRCA1 and BRCA2 (BReast CAncer Gene 1 and 2) carriers in an Asian population and refined breast and ovarian cancer risk estimates for this population. The findings, published in The Lancet Regional Health—Western Pacific, will better guide the clinical management of Asian patients with BRCA1 and BRCA2 mutations ..read more

In a new analysis of genetic susceptibility to kidney cancer, an international team of researchers has identified 50 new areas across the genome that are associated with the risk of developing kidney cancer. These insights could one day be used to advance our understanding of the molecular basis of kidney cancer, inform screening efforts for those at highest risk, and identify new drug targets ..read more

A new study highlights possible cardiovascular health advantages in individuals with a rare condition known as growth hormone receptor deficiency (GHRD), also called Laron syndrome ..read more

A new paper by Dana-Farber Cancer Institute scientists lays the foundation for targeted therapies to inhibit the activation of nuclear factor kappa B (NF-κB), a transcription factor that plays a role in various autoimmune and inflammatory diseases and cancers ..read more

Shutting down a gene called PRMT5 stopped metastatic estrogen receptor-positive (ER+) breast cancer cells from growing after they acquired resistance to a standard therapy known as CDK4/6 inhibitors, UT Southwestern Medical Center researchers have shown in a recent study ..read more

A team of researchers at Johannes Gutenberg University Mainz (JGU) has identified a mechanism that causes mitochondrial dysfunction in Alzheimer's patients resulting in a reduction of the supply of energy to the brain ..read more

In a landmark study, an international consortium led by researchers at Children's Hospital of Philadelphia (CHOP) published the final results of a key clinical trial of the gene therapy CASGEVY (exagamglogene autotemcel) for the treatment of sickle cell disease in patients 12 years and older with recurrent vaso-occlusive crises (VOCs ..read more

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using artificial intelligence. The team developed a machine learning system called AI-MARRVEL (AIM) to help prioritize potentially causative variants for Mendelian disorders. The study is published in NEJM AI ..read more

A new UCLA Health study has found that certain genetic variants could help explain how long-term pesticide exposure could increase the risk of Parkinson's disease ..read more