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Researchers uncover a new genetic cause of neurodevelopmental disorders

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs).

10 Apr 2025

New study sharpens focus on genetic causes of asthma

Genome wide association studies (GWAS) have identified hundreds of genome regions containing thousands of genetic variants associated with asthma, but it's still not clear which variants have an actual causal link to the disease.

10 Apr 2025

Are food additives linked to type 2 diabetes?

This study identifies food additive mixtures associated with higher type 2 diabetes risk, urging a reevaluation of safety assessments for combined additives.

10 Apr 2025

Rapid growth of blood cancer driven by a single genetic ‘HIT’

A new study has unveiled when chronic myeloid leukaemia, a type of cancer that affects the blood and bone marrow, arises in life and how fast it grows.

10 Apr 2025

Largest study of osteoarthritis genetics uncovers new drug targets

Osteoarthritis is the leading cause of disability and chronic pain worldwide, affecting an estimated 595 million people globally.

9 Apr 2025

Genetic fusion drives unexpectedly fast growth in chronic myeloid leukemia

A new study has unveiled when chronic myeloid leukemia, a type of cancer that affects the blood and bone marrow, arises in life and how fast it grows.

9 Apr 2025

Genetic breakthrough in psychiatry using long-read genomic sequencing

In a manuscript published today in the American Journal of Psychiatry titled Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation, authors describe how they leveraged long-read genomic sequencing (LRS) to make a genetic diagnosis in a17-year-old male with autism spectrum disorder, intellectual disability, and acute behavioral decompensation that would not have been possible by standard methods.

9 Apr 2025

New STITCHR tool offers a promising step forward for gene therapy

Investigators from Mass General Brigham and Beth Israel Deaconess Medical Center have developed STITCHR, a new gene editing tool that can insert therapeutic genes into specific locations without causing unwanted mutations.

9 Apr 2025

ETH Zurich researchers identify redundancies between the genes involved in DNA repair

Researchers aThe DNA of human cells consists of a sequence of about 3.1 billion building blocks. Cells go to great lengths to maintain the integrity of this vast store of information.t ETH Zurich have unraveled the complex network that cells use to repair their genetic material.

9 Apr 2025

New molecular target identified for pancreatic cancer treatment

Researchers at City of Hope®, one of the largest and most advanced cancer research and treatment organizations in the U.S. with its National Medical Center named top 5 in the nation for cancer by U.S. News & World Report, have identified a new molecular target for treating pancreatic cancer, reports a Gastroenterology study published today.

8 Apr 2025

New discovery promises to revolutionize liver organoid development

Organoids are small-scale models that mimic human organs. These models could help scientists understand diseases and test treatments, and potentially aid in regenerative therapeutic methods.

8 Apr 2025

Genetic tendency to sedentary behavior linked to higher heart disease risk

Although sedentary behavior may be an evolutionarily selected trait, it is still important to try to be physically active, says a new study conducted at the University of Jyväskylä, Finland.

8 Apr 2025

AI model enhances detection of antibiotic resistance in deadly bacteria

Drug-resistant infections - especially from deadly bacteria like tuberculosis and staph - are a growing global health crisis.

7 Apr 2025

Blood test breakthrough pinpoints 70 proteins linked to asthma risk in major genetic study

Researchers used UK Biobank data to identify 70 proteins with genetically predicted roles in asthma, offering insights into disease mechanisms.

7 Apr 2025

Genetic pathways explain why some people grow tall and others stay short

A landmark review in Nature Reviews Genetics dissects the rare and common genetic variants that shape human height. The paper explains how monogenic and polygenic factors converge on key growth pathways and influence disease risk.

7 Apr 2025

Gut bacteria and blood metabolites directly affect children’s height, study finds

Researchers used Mendelian randomization to uncover causal links between gut microbiota, blood metabolites, and short stature in children.

7 Apr 2025

Cryo-EM reveals fine structural details of human chromatin remodeler in action

Chromatin remodeling plays a vital role in gene regulation, affecting how DNA is accessed. Disruptions in this process can also lead to cancer and other diseases.

4 Apr 2025

CRISPR tool unveils genetic drivers of blood cell maturation

Collaborative research led by investigators at Dana-Farber/Boston Children's Cancer and Blood Disorders Center defines a novel approach to understanding how certain proteins called transcription factors determine which genetic programs will drive cell growth and maturation.

4 Apr 2025

New study reveals hidden spread of C. diff in intensive care units

One of the most common health care-associated infections spreads within intensive care units (ICUs) more than three times more than previously thought, new research has found.

4 Apr 2025

Pancreatic cells show epigenetic marks before cancerous transformation

Johns Hopkins Medicine scientists say they have found a pattern of so-called epigenetic "marks" in a transition state between normal and pancreatic cancer cells in mice, and that the normal cells may keep at least a temporary "memory" of those cancer-linked marks.

4 Apr 2025