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Gene duplication tied to juvenile glaucoma in 20 patients across 10 families

Clinical genetics news

Gene duplication tied to juvenile glaucoma in 20 patients across 10 families

A major international study led by Flinders University has identified a genetic contributor to juvenile glaucoma. Published today in the journal JAMA Ophthalmology, the study marks another important step toward treating multiple ...

1 hour ago

Hidden sex differences may explain why lupus strikes women far more often

Ahead of World Lupus Day on May 10, new research from the Garvan Institute of Medical Research and UNSW Sydney helps explain why women are significantly more likely to be diagnosed with an autoimmune disease—a condition where ...

4 hours ago

Why unusually long telomeres could raise lymphoma risk and reshape cancer monitoring

Researchers at the Johns Hopkins Kimmel Cancer Center and the Telomere Clinic at Johns Hopkins have identified a genetic syndrome in which unusually long telomeres—the protective caps at the ends of chromosomes—allow immune ...

3 hours ago

One overlooked detail in cancer genomes is rewriting which mutations really matter

It's a fundamental principle of science: Correlation does not equal causation. Every cancer cell has genetic mutations, but not all of those mutations necessarily drive the cancer.

23 hours ago

Blood protein study of 78,000 people uncovers disease mechanisms and drug repurposing leads

Involving a collaboration with 118 investigators contributing from 89 institutions, scientists from Queen Mary University of London's Precision Healthcare University Research Institute and Berlin Institute of Health (BIH) ...

23 hours ago

Rapid genomic testing helps 1,100 families worldwide target treatment for rare childhood disease

An international partnership designed to improve equality in access to genomic medicine for a rare disease has now provided potentially life-saving genetic testing for over 1,100 families across the world.

May 6, 2026

Same genetic mutation, different clinical outcomes: Study shows why neurodevelopmental disorders vary so widely

Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders, but some experience severe intellectual disability or developmental delay, while others may only ...

May 5, 2026

Unmasking autism spectrum disorder through its gene-based roots

Two studies led by the Chahrour Lab at UT Southwestern Medical Center shed new light on genes associated with autism spectrum disorder (ASD), the neurodevelopmental disease characterized by impaired communication, abnormal ...

May 5, 2026

Complete remission of aggressive pituitary tumor achieved through immunotherapy

Researchers at the University of Cincinnati Gardner Neuroscience Institute's Brain Tumor Center have been confirmed as the first in the world to achieve complete remission of a rare pituitary cancer using a novel immunotherapy ...

May 4, 2026

Many genes have been linked to autism—but a new study suggests it may be their path to the brain that matters

In recent years, scientists have identified hundreds of different genes associated with autism, a burst of discovery that has prompted a new and perplexing question: how can so many different genes produce the same or very ...

May 4, 2026

How sugar fuels sight: Glucose metabolism linked to epigenetic and gene expression changes in the retina

National Eye Institute (NEI) scientists have found that the way the retina metabolizes glucose directly controls which genes get switched on and off in light-sensing photoreceptors. The findings suggest that metabolic disruptions ...

May 4, 2026

Digital archive opens funding 'black box' behind genomics breakthroughs

A new digital archive developed by Northwestern scientists reveals how state-supported research funding agencies cooperate with the scientific community to decide to support scientific research projects and contribute to ...

May 4, 2026

Family data reveal two genetic paths to childhood depression and anxiety

Many common mental health disorders, including depression and anxiety, are associated with a tendency to internalize problems or, in other words, to direct feelings inwards instead of expressing them and sharing them with ...

May 3, 2026 feature

Discovery of a new gene pattern could help doctors identify Ebola faster and more accurately

When someone is infected with Ebola, the body mounts a strong immune response, as it does in response to many pathogens. Researchers at the Wake Forest Institute for Regenerative Medicine (WFIRM) have now made an important ...

May 3, 2026

Cold skin, hot heart, one gene: Hidden temperature switch decides where disease appears

The saying "cold hands, warm heart" is usually meant metaphorically—but new research from UC Davis School of Medicine and collaborating institutions suggests it has a striking biological parallel.

May 2, 2026

Cell-by-cell analysis uncovers 345 risk genes across six neuropsychiatric disorders

The emergence of neuropsychiatric disorders, conditions that affect various brain functions and behaviors, is known to be driven by an intricate combination of factors. These can include both a genetic predisposition and ...

May 1, 2026 feature

A gene that keeps intestinal stem cells stable offers insight into how tissues repair themselves

Years before he conducted the research that would earn him a Nobel Prize in Physiology and Medicine, Shinya Yamanaka, MD, Ph.D., was a postdoctoral scientist at Gladstone Institutes, studying genes. There, he helped discover ...

Apr 30, 2026

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Genetic discovery may explain why pancreatic cancer is so difficult to treat

Pancreatic cancer can remain quiet for years, developing undetected before causing symptoms that lead to a diagnosis. Even after a surgeon removes a pancreas tumor, other cells often hide and erupt later. But University of ...

Apr 30, 2026

A study in 1.4 million women expands knowledge on endometriosis and its biological complexity

Endometriosis, a chronic inflammatory disease that affects approximately one in ten women of reproductive age—around 190 million worldwide—remains poorly understood from a biological perspective, which has historically hindered ...

Apr 30, 2026

Predicting genetic risk for type 1 diabetes just got more accurate thanks to machine learning study

In people with type 1 diabetes (T1D), the immune system shuts down the body's ability to make the hormone insulin, responsible for regulating blood sugar and providing cells with glucose to produce energy. As a result, they ...

Apr 30, 2026

Validation study reveals new tool can predict patients' genetic risk of 8 cardiovascular conditions

Researchers at Mass General Brigham Heart and Vascular Institute and collaborators have developed and validated a new genetic risk test that can estimate a person's inherited risk for eight common cardiovascular conditions, ...

Apr 29, 2026

Common genetic marker may guide new treatment for acute leukemia

A genetic alteration that is already routinely analyzed in patients with acute myeloid leukemia can be used to identify patients who respond to a new targeted therapy, according to a study published in the journal Discover ...

Apr 29, 2026

A banned chemical still lingers, and its strangest effect may depend on sex, genes and one common vitamin

In two new studies, researchers at the UC Davis MIND Institute have clarified how a long-banned group of chemicals, called polychlorinated biphenyls (PCBs), affect genetic activity. The research helps explain how biological ...

Apr 28, 2026

Cancer cells can rewrite RNA messages, creating new drug targets in aggressive tumors

Scientists have uncovered an unexpected way cells can generate cancer-driving proteins—by cutting RNA into shorter, functional fragments rather than following the standard blueprint. This process, newly termed as "RNA dicing," ...

Apr 28, 2026

Macaques reveal human-like genetic cause of inherited blindness, offering new disease model

An inherited form of blindness directly comparable to a common inherited optic nerve disease in humans has been discovered in rhesus macaques at the California National Primate Research Center at the University of California, ...

Apr 28, 2026