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Clinical genetics news
Neural signaling protein could be therapeutic target for autism-linked gene deletion
A particular signaling protein in the brain could be a therapeutic target for neurological disorders arising from the deletion of the autism-linked gene MEF2C, University of Illinois Urbana-Champaign researchers found in ...
16 hours ago
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Researchers establish best methods to measure genetic variation within the body
WashU Medicine researchers have verified the accuracy of genetics tools to correctly identify all the rare DNA changes that make up an individual's genomic mosaic, paving the way to understanding these variants' impact on ...
21 hours ago
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One gene, two paths: Opposite synaptic defects linked to same intellectual disability
A research team led by Dr. Sheng Nengyin of the Kunming Institute of Zoology (KIZ) of the Chinese Academy of Sciences has reframed ZC4H2-associated rare disorder (ZARD)—a disorder marked by intellectual disability, developmental ...
21 hours ago
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New blood count ranges could prevent unnecessary testing for people with Duffy-null trait
The American Society of Hematology has developed new reference ranges for children and adults with Duffy-null status, a common genetic trait associated with naturally lower circulating white blood cell counts that affects ...
22 hours ago
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Scientists pinpoint hundreds of genetic variants that offer new insights into inherited breast cancer risk
Scientists have carried out one of the largest experimental studies of breast cancer variants to date, helping pinpoint genetic changes that are most likely to contribute to the development of the disease.
22 hours ago
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'Genetic map' of patient's tumor uncovers cancer risk genes that would otherwise remain hidden
Using next-generation sequencing (NGS) to profile tumor cells from patients with solid tumors, researchers at Fondazione Policlinico Universitario A. Gemelli IRCCS identified genetic alterations associated with cancer predisposition ...
21 hours ago
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Key gene preserves lifelong supply of stem cells that make bone healing possible, study suggests
The action of a key gene is required to maintain a lifelong supply of stem cells that make bone healing possible, a new study finds.
Nov 4, 2026
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Researchers identify genetic 'convergence' in autism and a possible explanation for the female protective effect
In many cases, all it takes is one mutated gene to orchestrate changes across a whole network of genes linked to autism, according to new results published in Nature by researchers at Boston Children's Hospital. The finding ...
Nov 4, 2026
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New CRISPR proteins expand editing access to heart disease genes
Rice University's Han Xiao has used his AI-supported Sequence Display technology to expand the targeting abilities of CRISPR/Cas9. In a paper recently published in Nature Communications, Xiao evolved several variants of a ...
Nov 4, 2026
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Why humans are more sensitive than other species to a brain developmental disease
Researchers at VIB and KU Leuven have uncovered how mutations in the ASPM gene disrupt the development of neural stem cells that help the human brain grow. This disruption explains how these mutations cause microcephaly, ...
Nov 4, 2026
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Breast cancer atlas reveals hidden subtypes to help chart course for precision oncology
A new molecular map of breast cancer has identified novel forms of the disease and provides a foundation for selecting personalized treatments guided by a tumor's molecular characteristics rather than standard pathology alone.
Nov 3, 2026
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Hidden ancestral links found in motor neuron disease and dementia could speed up gene discovery
Researchers at the Macquarie University Brain Institute and Clinic have helped accelerate the search for disease-causing genes by building new genetic 'families.' The team uncovered hundreds of previously unrecognized family ...
Nov 3, 2026
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New clues about why the eye's iris sheds in pigmentary glaucoma
Yale School of Medicine researchers have discovered new genetic risk factors associated with a subtype of the eye condition glaucoma. The findings highlight a novel mechanism that may contribute to the onset of the disease.
Nov 3, 2026
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Rapid genome sequencing helps guide care for about 50% of children with cancer
Two studies involving investigators at Cedars-Sinai Guerin Children's and the University of Cambridge, U.K., highlight the growing potential of whole-genome sequencing to transform the diagnosis and treatment of childhood ...
Nov 2, 2026
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Hereditary lung and liver disease successfully treated for the first time using gene correction
Alpha-1 antitrypsin deficiency (AATM) is a congenital metabolic disorder. It is caused by a genetic defect, which results in the protective protein alpha-1 antitrypsin (AAT) being produced incorrectly. This deficiency primarily ...
Nov 2, 2026
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Researchers identify connection between pulmonary hypertension and cognitive impairment
University of Pittsburgh and UPMC researcher-clinicians have uncovered why many pulmonary hypertension patients report symptoms of cognitive decline.
Nov 2, 2026
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Subtype-specific mutations drive relapse risk in most common childhood leukemia
Some cases of the most common childhood cancer, B-cell acute lymphoblastic leukemia (B-ALL), return after treatment—and genetic changes present from the start may help explain why. Scientists at St. Jude Children's Research ...
Nov 2, 2026
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Halting muscular dystrophy with a 'backup' protein
A new use of CRISPR gene editing has halted and even reversed the progression of a model of Duchenne muscular dystrophy, according to work led by scientists at the Perelman School of Medicine. The technique boosted a protein, ...
Oct 29, 2026
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Genetic testing may help identify inherited blood disorder carrier status earlier
Mayo Clinic researchers have found that genetic testing can help identify people who carry inherited blood disorder traits, including individuals who may not otherwise know their carrier status. Earlier identification can ...
Oct 29, 2026
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Large-scale genetic study on Alzheimer's identifies new DNA risks
A large-scale international study offers new insights for understanding Alzheimer's disease and developing future treatments. The University of Exeter–led PROTECT study was part of the research, led by Vrije Universiteit ...
Oct 28, 2026
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Unifying mechanism explains how common cancer mutations fuel growth
A family of mutations seen in about 20% of human cancers drives malignancy by changing the accessibility of genes to a particular regulatory protein, according to a study by Weill Cornell Medicine investigators. The findings ...
Oct 28, 2026
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Three studies reveal the hidden layers between DNA and disease
In three studies published in Nature today, Australian researchers have made advances in our understanding of how genetic differences between people influence disease. The team from the Garvan Institute of Medical Research, ...
Oct 28, 2026
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Abnormal neurons are surprisingly common in the developing brain
During fetal development, the human brain generates an excess of neurons, most of which are eliminated shortly before and after birth. New research from Harvard Medical School and Boston Children's Hospital suggests that ...
Oct 28, 2026
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Switching on healthy silent genes reveals new way to treat Prader-Willi syndrome
WEHI researchers have discovered a way to release a genetic 'brake' that silences healthy genes in Prader-Willi syndrome, opening a potential new path to treating the condition.
Oct 27, 2026
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Rare gene variants linked to dental differences that shape our smiles
Rare variants in a gene involved in early development have been linked to a range of dental differences in people, including missing teeth, unusual tooth shapes and teeth present at birth. By studying changes in the same ...
Oct 26, 2026
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