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Clinical genetics news
Fat-storing gene emerges as possible contributor 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.
2 hours ago
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Current age-based genetic testing in patients with cancer may miss the majority of inherited gene variants
Germline genetic screening can identify whether a patient with cancer has inherited genetic alterations in a gene or genes that are implicated in cancer. These inherited genetic alterations, known as germline pathogenic variants, ...
2 hours ago
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IVF-conceived children show more 'jumping gene' DNA, study finds
Infertility affects more than 15% of couples worldwide. Thanks to medical science, infertility treatments have come a long way over the past few years. For millions of people, in vitro fertilization (IVF) has opened a medical ...
First single-cell DNA analysis reveals mitochondrial damage in vulnerable Parkinson's brainstem neurons
Researchers have carried out the first single-cell analysis of mitochondrial DNA in a population of brainstem neurons that are particularly vulnerable to degeneration in Parkinson's disease.
10 hours ago
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Health records link ADHD to more than fourfold higher risk of later cognitive impairment
A new study led by University of Pittsburgh School of Medicine researchers finds that adults with attention-deficit/hyperactivity disorder (ADHD) face a significantly higher risk of developing dementia or mild cognitive impairment ...
15 hours ago
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NHS labs fail to share data vital for diagnosis and care of rare diseases, investigation finds
Three of England's seven NHS genetics laboratories are failing to routinely share vital information about genetic variants in public databases that helps patients with rare diseases access diagnosis and care, an investigation ...
8 hours ago
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We may need a new map to properly interpret our genome
Genetic information may play an increasingly important role in the personalized preventive medicine of the future. Whole-genome sequencing could open up new possibilities for identifying susceptibility to and risk of specific ...
9 hours ago
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Scientists identify gene signatures in children with severe COVID-19 infection
Researchers have identified patterns of gene activity associated with severe COVID-19 in children that are shared with other serious respiratory infections.
19 hours ago
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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.
Oct 6, 2026
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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 ...
Oct 6, 2026
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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. ...
Oct 6, 2026
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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.
Oct 6, 2026
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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 ...
Oct 6, 2026
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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 ...
Oct 6, 2026
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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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