Mutation News and Research

RSS

Study finds both the liver and brain drive distinct symptoms of rare genetic epilepsy

A recent study from Johns Hopkins Medicine reveals that both the liver and brain contribute pathways to differing symptoms of the same rare inherited disorder.

9 Oct 2026

Study explains why autism is more common in boys

Researchers at Baylor College of Medicine, the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital and collaborating institutions have identified new genetic candidates that help explain why autism is diagnosed about four times more often in boys than in girls.

9 Oct 2026

Study explains how sickle cell variant shapes malaria parasite infections

Malaria is one of the deadliest infectious diseases on the planet, afflicting people for the entirety of recorded history.

8 Oct 2026

Universal germline genetic testing catches missed cancer risks in older patients

Universal germline genetic testing of nearly 40,000 patients with solid tumors detected a substantial proportion of inherited gene variants that would have been missed by the standard germline testing approach that excludes those over age 50.

8 Oct 2026

Study links non-brain gene variant to anorexia risk

A gene primarily active in fat and muscles could make a person more susceptible to anorexia nervosa, a deadly eating disorder with one of the highest mortality rates of any psychiatric disease.

8 Oct 2026

Ancient gut microbes migrated with humans across the globe

As waves of humans left Africa tens of thousands of years ago, eventually populating the entire planet, they were joined on their world-conquering ride by the trillions of microorganisms that compose the gut microbiome.

7 Oct 2026

Genetic and tissue analysis reveals new targets for lymphatic malformations

Lymphatic malformations are rare disorders in which lymph vessels develop abnormally, often beginning in childhood and sometimes causing swelling, infection, bleeding, pain, or airway obstruction.

6 Oct 2026

Timing of brain surgery critical for certain Parkinson's patients

The timing of Deep Brain Stimulation (DBS) surgery is a critical factor in preserving cognitive function for Parkinson's disease patients with a specific genetic mutation, according to a new study by an international team of researchers.

6 Oct 2026

Cigarette smoke alters lung stem cells to drive specific cancers

Chronic exposure to cigarette smoke may reprogram different populations of lung stem cells, which maintain and repair lung tissue, in ways that make them vulnerable to specific cancer-causing gene alterations and ultimately helps determine the type of lung cancer that develops.

6 Oct 2026

ASAC trial reveals aspirin fails to improve metastatic colorectal cancer survival

Colorectal cancer is one of the most common cancers worldwide, and up to half of patients develop liver metastases during the course of their disease.

5 Oct 2026

Varying mutation rates in healthy organs explain cancer risk

A new study by scientists at City of Hope® and TGen, part of City of Hope, found surprisingly large differences in the number of mutations present in organs of healthy individuals.

1 Oct 2026

Fluorescent sensors could help researchers see diabetes in action

Researchers from the University of Bath have developed fluorescent molecular probes that can detect changes in glucose levels inside living animals, giving scientists new ways of visualizing sugar uptake, studying diabetes, cancer and other metabolic diseases in whole organisms in real time.

1 Oct 2026

Personalized navigation support increases genetic testing among cancer patients' relatives

Among cancer patients who received personalized support and navigation services from experts throughout the genetic testing process, their first-degree relatives – parents, siblings and children – were significantly more likely to receive genetic testing, as well.

30 Sep 2026

Bile DNA sequencing helps identify hidden pancreatobiliary tumors

Distinguishing malignant from benign biliary strictures remains a major clinical challenge. Endoscopic retrograde cholangiopancreatography (ERCP)-guided cytology and biopsy may be inconclusive, particularly in early-stage disease or when tissue is scarce.

29 Sep 2026

Triple combination therapy trial for HR+/HER2− breast cancer halts early due to toxicity concerns

HR+/HER2− breast cancer constitutes approximately 65–75% of all breast cancer cases worldwide. Although CDK4/6 inhibitors have substantially extended progression-free survival (PFS), up to 60% of patients derive no clinical benefit from these agents, underscoring the urgent need for more effective therapeutic strategies.

28 Sep 2026

Zebrafish study reveals how albinism gene influences embryonic eye development

Tiny, striped zebrafish are helping scientists trace how a gene linked to albinism influences eye development, work that may ultimately help explain some of the vision problems experienced by people with the condition and guide the search for new treatments.

28 Sep 2026

New EASD study highlights red meat sugar as independent risk factor for type 2 diabetes

Preliminary results of an observational study being presented at the Annual Meeting of The European Association for the Study of Diabetes (EASD) in Milan, Italy (Sept 28 – Oct 2), reveal that a sugar called dietary N-glycolylneuraminic acid (Neu5Gc), which is common in red meat, is independently associated with a 63% higher risk of developing type 2 diabetes (T2D) in those with the highest versus lowest consumption, even after taking into account other T2D risk factors such as level of physical activity, overall diet, smoking status and other health conditions.

28 Sep 2026

Review highlights emerging treatments for glioblastoma multiforme

A new research perspective was published in Volume 13 of Oncoscience on September 17, 2026, titled "Emerging pharmacological agents for glioblastoma multiforme: An update on active clinical trials (2025–2026)."

25 Sep 2026

USP15 enzyme emerges as potential target for ovarian cancer treatment

Ovarian cancer is often diagnosed after it has already spread to other parts of the body, at which point the five-year survival rate is under 30 percent.

24 Sep 2026

Five research teams secure funding for frontotemporal dementia studies

The Kissick Family Foundation, in partnership with the Milken Institute Science Philanthropy's Accelerator for Research and Collaboration (SPARC), today announced five research teams selected to receive a total of $2.5 million through the third funding cycle of the Kissick Family Foundation Frontotemporal Dementia (FTD) Grant Program.

24 Sep 2026