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Clinical genetics news
Unexpected link identified between rare metabolic disease gene and inherited blindness
Researchers at the Greenwood Genetic Center (GGC) led the discovery of an unexpected connection between inherited blindness and a gene known for causing a rare metabolic disorder.
11 hours ago
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International study validates less invasive approach to diagnosing mitochondrial disease
Researchers at Children's Hospital Colorado (Children's Colorado) and the University of Colorado Anschutz School of Medicine have published one of the largest studies to date evaluating advanced laboratory testing for mitochondrial ...
13 hours ago
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New HPV selection method could help develop more stable, easier-to-produce vaccines
It's recommended that all adolescents get vaccinated against human papillomavirus (HPV), as the infection can cause cancer. HPV causes nearly all cases of cervical cancer and about 70% of some forms of head and neck cancers. ...
16 hours ago
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Abnormal lymph vessels show heightened growth signaling regardless of key gene mutation
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.
8 hours ago
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Inherited lupus can begin early—and continue silently
A multicenter study led by researchers at Sultan Qaboos University has found that patients with a rare inherited form of lupus may continue to accumulate organ damage even when conventional measures indicate that their disease ...
11 hours ago
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Brain stimulation timing may shape memory outcomes in Parkinson's patients with GBA1 mutations
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 ...
15 hours ago
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Rare genetic variants linked to lower cognitive test scores in expanded analysis
The largest genetic study of cognition to date has been published, involving nearly half a million people of European ancestry. This provides a new understanding of the genetic factors that shape cognitive differences and ...
Oct 5, 2026
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Tracing fetal DNA through maternal blood can help reduce prenatal testing errors
Understanding how fetal DNA travels in a pregnant woman's blood could unlock the next generation of prenatal screening, according to a new paper published in Science Advances.
Oct 2, 2026
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Researchers report early results from therapy designed for a single patient with a rare genetic form of ALS
Mayo Clinic researchers report encouraging early results from an experimental therapy targeting the genetic cause of a rare form of amyotrophic lateral sclerosis, or ALS.
Oct 2, 2026
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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.
Oct 1, 2026
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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 ...
Oct 1, 2026
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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 ...
Oct 1, 2026
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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 ...
Oct 1, 2026
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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. ...
Sep 30, 2026
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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