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Deletion of long non-coding RNA linked to rare neurodevelopmental disorder

When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with an overproduction of protein from the chromodomain helicase DNA binding (CHD2) gene can develop a rare and severe neurodevelopmental disorder that renders them wheelchair-bound, nonverbal and with profound intellectual delays.

24 Oct 2024

Study connects brain volume variations with genetic risk factors for Parkinson’s disease and ADHD

Unprecedented genome analysis reveals genetic links between brain structure and disorders like Parkinson's and ADHD, paving the way for innovative treatments.

23 Oct 2024

P-stalk ribosomes identified as key regulators of immune evasion in cancer

Research uncovers how P-stalk ribosomes regulate cytokine responses, driving immune evasion in tumors across multiple cancer types. It offers new insights into post-translational mechanisms influencing immunotherapy success.

23 Oct 2024

Structural biology reveals secrets of DEV phage infection

The viruses that infect bacteria are the most abundant biological entities on the planet. For example, a recent simple study of 92 showerheads and 36 toothbrushes from American bathrooms found more than 600 types of bacterial viruses, commonly called bacteriophages or phages.

22 Oct 2024

New insights into how gene transcription influences genome motion

A team of scientists has discovered surprising connections among gene activity, genome packing, and genome-wide motions, revealing aspects of the genome's organization that directly affect gene regulation and expression.

22 Oct 2024

Genetic variant identified as potential predictor for severe ulcerative colitis

The HLA-DRB1*01:03 genetic variant is associated with severe ulcerative colitis, significantly raising the risk of major surgeries and hospitalizations.

21 Oct 2024

Researchers identify genetic links to brain volume and disorders

In one of the largest-ever studies of DNA and brain volume, researchers have identified 254 genetic variants that shape key structures in the "deep brain," including those that control memory, motor skills, addictive behaviors and more.

21 Oct 2024

Ancient DNA reveals insights into starch digestion

If you've ever struggled to reduce your carb intake, ancient DNA might be to blame. It has long been known that humans carry multiple copies of a gene that allows us to begin breaking down complex carbohydrate starch in the mouth, providing the first step in metabolizing starchy foods like bread and pasta.

18 Oct 2024

Revolutionizing precision nutrition with gut microbiome insights

Researchers at Rutgers University-New Brunswick, along with international collaborators, have introduced a novel method for identifying the crucial set of gut microbes commonly found in humans and essential for health.

18 Oct 2024

Scientists map the genetic landscape of drug resistance in cancers

All cancer mutations that cause drug resistance fall into one of four categories. New research has detailed each type, helping to uncover targets for drug development and identify potential effective second-line therapies.

18 Oct 2024

Researchers identify protein linked to cardiovascular health in progeria

A new University of Maryland-led discovery could spur the development of new and improved treatments for Hutchinson-Gilford progeria syndrome (HGPS), a rare genetic disorder with no known cure that causes accelerated aging in children.

18 Oct 2024

Study identifies genetic associations with youth psychopathology

When trying to understand how genetic influences factor into youth behavior, researchers at Washington University in St. Louis have taken the "big trawl" approach, casting their net wide to pull in all the measured traits, behaviors and environments that make up who we are and examine associations with the genetic building blocks comprising risk for mental health problems.

17 Oct 2024

Genetic analysis shows smoking and high BMI increase dementia risk, but education and exercise protect

Mendelian randomization of 400,000 participants reveals smoking, high BMI, and high cholesterol as major genetic risk factors for dementia, while longer education and physical activity reduce risks.

17 Oct 2024

Adenine base editors show potential to correct X-CGD-causing mutations

A collaborative effort between investigators at the National Institutes of Health's National Institute of Allergy and Infectious Diseases (NIAID) and Massachusetts General Hospital (MGH), a founding member of the Mass General Brigham healthcare system, demonstrates the potential of precise genome editing technologies, called adenine base editors, to correct disease-causing mutations in stem cells from patients with X-linked chronic granulomatous disease (X-CGD), a rare genetic disorder characterized by high susceptibility to infections.

16 Oct 2024