Last update:
Clinical genetics news
How sex chromosomes influence lifelong health beyond determining biological sex
A new review published in Science brings together growing evidence that the X and Y chromosomes do more than determine biological sex. They also shape how cells function, age and respond to disease.
2 minutes ago
0
0
How damaged mitochondria may contribute to liver disease
Mitochondria supply cells with energy, and they also play an important role in metabolism. The Institute of Biochemistry and Molecular Biology I at Heinrich Heine University Düsseldorf (HHU) and University Hospital Düsseldorf ...
3 hours ago
0
0
Study finds hidden mutation rates may shape 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 the organs of healthy individuals. Some study participants had mutation ...
2 hours ago
0
0
Children with a common genetic variant may have more inflammation in response to an asthma drug
Children with a variant in the SERPINE1 gene—which is found in 60% of the population—may be less responsive to mepolizumab, a drug used to treat asthma flares, according to a study published in the Journal of Allergy and ...
9 hours ago
0
3
Atlas of immune cells explains how genetic variants cause disease
Scientists have identified thousands of genetic differences that change a person's risk of disease, but working out how they actually affect biology—an important step toward creating new treatments—has been much more challenging. ...
22 hours ago
0
7
Research offers new hope for those at higher risk of Alzheimer's disease
A new study from the University of Missouri offers hope for those who are at significantly higher risk of developing Alzheimer's disease later in life.
Sep 30, 2026
0
30
Personalized support increases genetic testing for hereditary cancers among immediate family members
First-degree relatives—parents, siblings and children—of cancer patients who received personalized support and navigation services throughout the genetic testing process were significantly more likely to receive genetic testing ...
Sep 30, 2026
0
6
Children with preventable heart disease being missed through gaps in care
A new report has revealed critical gaps in the care of Australian children with a preventable pediatric disorder that can lead to premature cardiovascular disease (CVD). Familial hypercholesterolemia (FH) is a common genetic ...
Sep 30, 2026
0
5
Low-cost platform maps gene activity and metabolites in the same tissue sample
Spatial transcriptomics (ST) shows which genes are being expressed and where within a tissue. Spatial metabolomics (SM), on the other hand, maps the location of metabolites—small molecules produced or used by cells—within ...
Sep 29, 2026
0
4
Study identifies inherited genetic risk factors in childhood leukemia
A study from Karolinska Institutet shows that genetic testing can identify germline predisposition underlying childhood leukemia. The findings, published in Nature Communications, could help enable more personalized treatment ...
Sep 29, 2026
0
6
Gene editing approach opens potential new route to Alzheimer's treatment
Dr. Kevin Kemp and his research team at the University of Bristol have converted the high-risk Alzheimer's gene APOE4 into the lower-risk APOE3 gene.
Sep 29, 2026
0
9
New genetic testing guidance could improve patient diagnosis worldwide
New guidance co-led by University of Otago researchers could help more people with suspected inherited diseases receive a clear genetic diagnosis.
Sep 29, 2026
0
6
How missing pieces of the Y chromosome drive cancer in men
A new study found that cancer cells selectively chip away gene-rich sections of the Y chromosome, triggering changes that regulate tumor growth. Co-led by University of Arizona Cancer Center physician-scientist Dr. Dan Theodorescu, ...
Sep 28, 2026
0
25
AI and fruit fly tests link BRSK1 gene to rare neurodevelopmental disorder
Researchers at Baylor College of Medicine, the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, the Texome Project and collaborating institutions have identified variants in the BRSK1 gene ...
Sep 28, 2026
0
7
DNA sequencing test finds answers for patients with inherited muscle disease
A test developed by researchers at the Garvan Institute of Medical Research has identified the genetic cause of inherited muscle disease in people who remained without answers after years, sometimes decades, of standard testing. ...
Sep 25, 2026
0
38
New brain tumor test could transform diagnosis and treatment
Scientists and doctors at Newcastle are among the first in the U.K. to use a pioneering brain tumor test with the potential to speed up diagnosis for patients—from weeks to hours.
Sep 25, 2026
0
11
How the APOE4 gene damages brain blood vessels in Alzheimer's disease
Mount Sinai researchers have identified how APOE4, the strongest genetic risk factor for Alzheimer's disease, damages the brain's blood vessels and promotes the buildup of abnormal proteins linked to neurodegenerative disease. ...
Sep 24, 2026
0
121
How specific changes in DNA shape human brain structure
Why do human brains vary in size and shape, and how did our brains expand over evolutionary time to give us our enhanced cognitive abilities? Researchers at the UNC Department of Genetics and the UNC Neuroscience Center have ...
Sep 24, 2026
0
10
Earlier stem cell transplants may improve survival in rare inherited bone marrow disorder
More than 90% of children born with the rare bone marrow condition Shwachman-Diamond syndrome (SDS) survive beyond age 20. But fewer than 30% live beyond age 50. Long-term survival could improve if clinicians act on early ...
Sep 24, 2026
0
33
Genetic clues help reveal kids' cancer risk
Every person is a collection of genetic puzzle pieces. On their own, those pieces can be hard to understand, but together, they form the picture that is you.
Sep 24, 2026
0
7
Large-scale studies create one of the world's most comprehensive single-cell atlases of human brain disease
Research led by Mount Sinai scientists within the PsychAD Consortium, a large-scale, multidisciplinary initiative launched in 2019 with support from the National Institute on Aging (NIA), is featured in a collection of nine ...
Sep 23, 2026
0
46
New filters help genetic sequencing flag possible causes of meningitis and encephalitis
New research led by Aston University's Dr. Ghaniah Hassan-Smith has found a new way to diagnose infections of the central nervous system, such as meningitis and encephalitis, that can be difficult to identify using conventional ...
Sep 23, 2026
0
11
Cancer's 'rogue DNA' relies on two proteins to prevent and repair breaks
Researchers at Memorial Sloan Kettering Cancer Center (MSK) and their colleagues have discovered that a type of rogue DNA found in aggressive cancers has a hidden structural weakness—and that blocking a single repair protein ...
Sep 23, 2026
0
8
Year-old brain organoids reveal astrocytes may fuel early-onset epilepsy
Tiny, year-old human brain organoids that mimic the brain of a newborn are providing new clues to potential treatments for a leading genetic cause of childhood epilepsy that typically manifests as the brain matures shortly ...
Sep 23, 2026
0
6
FDA approves first gene therapy treatment for Sanfilippo syndrome type A
The Abigail Wexner Research Institute at Nationwide Children's Hospital celebrated the Food and Drug Administration's (FDA) approval of FAYUVI for Sanfilippo syndrome type A, following years of research in its Jerry R. Mendell ...
Sep 23, 2026
0
13
