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Clinical genetics news
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, ...
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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 ...
4 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.
4 hours ago
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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 ...
5 hours ago
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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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Multiomic atlas of the developing thalamus reveals how neuronal identities emerge
A team from the Institute for Neurosciences (IN), a joint center of the Spanish National Research Council (CSIC) and Miguel Hernández University of Elche (UMH), has developed the first multiomic atlas of the mouse embryonic ...
Oct 26, 2026
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Reproductive health and cystic fibrosis: New guidance offers options and hope
For much of the history of cystic fibrosis (CF) care, reproductive health was not a major part of the conversation. Fertility challenges were the norm for men and women with this genetic disorder, and many grew up assuming ...
Oct 26, 2026
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Six-gene scoring system could help predict leukemia survival
The activity of six different genes can help determine survival in patients with acute myeloid leukemia (AML), according to a study published in Science Advances. The findings by researchers at the Center for Genomic Regulation ...
Oct 23, 2026
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Online resources and coaching helped people seek genetic testing for cancer
About 10% of cancers are linked to an inherited genetic variant, but as few as one in 15 cancer patients eligible for genetic testing complete it.
Oct 23, 2026
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ESMO: New analysis reinforces survival benefits of targeted therapy for advanced pancreatic cancer
A new analysis of a phase 3 clinical trial found that the targeted drug daraxonrasib improved survival compared with standard chemotherapy across multiple groups of patients with advanced pancreatic cancer, including those ...
Oct 23, 2026
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Updated cancer treatment framework offers new guidance on actionability and resistance biomarkers
ESMO has published version 2 of the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT), a major update to the internationally recognized precision oncology framework that helps oncologists assess the clinical ...
Oct 23, 2026
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