Feature Channels: Genetics

• share
• favorite_border

Dr. David Beck, nationally known for his work studying a novel inflammatory disorder called VEXAS, joins NYU Langone’s Division of Rheumatology.

• share
• favorite_border

Genetic meta-analysis helps researchers detect genes related to FMD, a cardiovascular disease that affects mostly women, and defines relationships to other more common cardiovascular conditions.

• share
• favorite_border

Researchers find that restoring CDKL5 gene activity reverses many disease signs in young adult mice

• share
• favorite_border

Over a decade ago, UCLA physician-scientists began using a pioneering gene therapy they developed to treat children born with a rare and deadly immune system disorder. They now report that the effects of the therapy appear to be long-lasting, with 90% of patients who received the treatment eight to 11 years ago still disease-free.

• share
• favorite_border

Using supercomputer-driven dynamic modeling based on experimental data, researchers can now probe the process that turns off one X chromosome in female mammal embryos.

• share
• favorite_border

An artificial intelligence (AI)-based technology rapidly diagnoses rare disorders in critically ill children with high accuracy. The benchmark finding, published in Genomic Medicine, foreshadows the next phase of medicine, where technology helps clinicians quickly determine the root cause of disease so they can give patients the right treatment sooner.

• share
• favorite_border

Understanding how fully functional LUBAC blocks the cell death pathway can help scientists learn how to treat patients with rare genetic mutations in LUBAC components that impair the enzyme pathway.

• share
• favorite_border

UC San Diego researchers report that conducting genomic evaluations of advanced malignancies can be effective in guiding first-line-of-treatment, rather than waiting until standard-of-care therapies have failed.

• share
• favorite_border

The NIGMS Human Genetic Cell Repository (HGCR) and NHGRI Sample Repository for Human Genetic Research (SRHGR) now offer high molecular weight (HMW) DNA samples isolated from cell lines in the collections. HMW DNA is useful for long-read next-generation sequencing and studies that investigate large-scale genomic variation such as structural variation.

• share
• favorite_border

Ian Cheeseman, Ph.D., and his collaborators can now sequence the genomes of individual parasites found in the blood of infected patients -- even when the infection burden is very low, which can occur during asymptomatic infections. Gaining this incredibly detailed view is expected to help develop more effective treatments, vaccines or therapies.

• share
• favorite_border

Yale Cancer Center and Smilow Cancer Hospital experts explain why the PALB2 gene can increase your breast cancer risk.

• share
• favorite_border

Researchers at UC San Diego School of Medicine awarded $11.7 million by National Institutes of Health to identify genomic and socioeconomic factors contributing to health and disease in admixed individuals. The new center aims to bring the genomic revolution to all.

• share
• favorite_border

The reconstituted biological clock maintains daily cycles for days on end, allowing researchers to study the interactions of its component parts

• share
• favorite_border

A team of researchers at UT Southwestern Medical Center’s Touchstone Diabetes Center have successfully used CRISPR gene editing to turn fat cells normally used for storage into energy-burning cells.

• share
• favorite_border

SEATTLE — Oct. 5, 2021 — Below are summaries of recent Fred Hutch research findings and other news.

• share
• favorite_border

Neurologists say it's time for a moonshot for their patients with ALS, the neurodegenerative disease that is always deadly, often in just a few years or less.