New tool helps uncover rare genetic mutations in common diseases, including Parkinson's

Studies of genetics conducted in yeast cells, human neurons, mice or other model systems often reveal networks of genes that ...
Neuroscience News

Autism Mutations Converge on Shared Early Brain Pathways

Researchers discover that diverse genetic causes of autism converge on shared cell types and temporary maturation delays during early brain development.
ascopubs.org

Heterozygous Germline Fanconi Anemia–Related Gene Mutations Increase Susceptibility to Germ Cell Tumors

Germ cell tumors (GCTs) are a heterogeneous group of neoplasms that predominantly affect adolescents and young adults. Notably, geographical disparities in GCT incidence exist, with higher rates ...
Nature

Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant

Panel of known genetic mutations (SPINK1, PRSS1, PRSS2, CTRC, and CFTR) in patients with Fibrocalcific pancreatic diabetes (FCPD)compared to Type 2 Diabetes (T2DM) and healthy controls with emphasis ...
News Medical

Novel AI tool not only identifies genetic mutations but also predicts the type of disease

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic mutations but also predicts the type of ...
Nature

Mutational profiling using liquid biopsy to guide targeted therapy in patients with metastatic cancer

Liquid biopsy gained significant interest in the area of cancer management. This study aims to evaluate the effectiveness of molecular testing using ctDNA (circulating tumor DNA) to; detect genetic ...

Researchers find rare genetic mutation doesn't always result in blood cancer

Researchers have found that a genetic mutation associated with a rare group of blood cancers does not always result in ...
Yahoo

Scientists Discovered a Genetic Mutation That May Protect Against Alzheimer’s

Add Yahoo as a preferred source to see more of our stories on Google. Genetic mutations aren't always a bad thing. A groundbreaking new study suggests that mutations on a single gene may actually be ...
Forbes

Does Smoking Cause Genetic Mutations In Your Children?

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...
Technology Networks

Genetic Variants Linked to Spontaneous Cerebrospinal Fluid Leaks

A study linked spontaneous spinal CSF leaks to genetic variants that weaken connective tissue around the spinal cord, ...
Medical Xpress

Telomere protection failure: How genetic mutations cause pulmonary fibrosis

A research group from the National Cancer Research Center (CNIO) has found that an alteration in the POT1 gene prevents lung tissue from regenerating, which over time makes breathing difficult. The ...

Gene mutations may explain some spontaneous spinal fluid leaks

Researchers at Cedars-Sinai Health Sciences University and Johns Hopkins University have identified genetic mutations that ...