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Clinical genetics news
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 ...
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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 ...
4 hours ago
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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.
6 hours ago
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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 ...
5 hours ago
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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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'Average' human genome described for first time, with implications for disease risk
A new study has characterized the "average" human genome, providing key information on normal human genetic variation and genetic disease risk. The researchers conclude that everyone—regardless of their current health status—could ...
Oct 22, 2026
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New gene-editing approach shows promise in treating Huntington's disease in mice
Huntington's disease is caused by repetitive "stutters" in DNA—specifically repeated CAG sequences—that expand abnormally over time, leading to toxic protein accumulation that contributes to the progression of the disease. ...
Oct 22, 2026
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Liver tumors form without detectable driver mutations in mice, revealing epigenetic route
Cancers can develop through epigenetic pathways even without driver gene mutations (DGMs), according to a study from Science Tokyo. Researchers uncovered the YAP1–TEAD–TET1 axis, which triggers DNA demethylation and activates ...
Oct 22, 2026
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MRI scans and DNA data uncover new genetic links to fatty liver disease
Fatty liver disease is characterized by the accumulation of triglycerides—a type of fat—in the liver. The disease has a strong genetic component, but until now, knowledge about which genes influence its development has been ...
Oct 22, 2026
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Comprehensive DNA sequencing reveals hidden drivers of cancer
Michigan's Oncology Sequencing Program, or MiOncoSeq, was the first of its kind in the nation to sequence patient tumors. Launched in 2010, the program analyzes DNA and RNA from normal tissue and tumors to identify alterations ...
Oct 22, 2026
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Pancreatic cancer study highlights body's natural molecules as potential treatment tools
Pancreatic cancer cells are remarkably good at doing one thing: growing. But new Texas A&M research suggests that two tiny molecules already present in the body may help slow them down.
Oct 21, 2026
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Experimental treatment selectively reduces harmful protein in lab models of rare inherited brain disorder
Researchers from DZNE and the Hertie Institute for Clinical Brain Research (HIH) at the University of Tübingen, together with experts from Bonn, London and Portugal, have developed and successfully tested in human neurons ...
Oct 21, 2026
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