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Clinical genetics news
Researchers identify DNA marker that could predict treatment response in myelodysplastic syndromes
DNA methylation patterns present at diagnosis could help predict which patients with myelodysplastic syndromes (MDS) will respond to azacitidine. That's the key finding of a new multicenter study involving researchers at ...
2 hours ago
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Scientists turn protein-making errors in cancer cells into a targeted kill switch
Like every other cell in the human body, cancer cells also produce their own share of proteins for survival. During this production process, cells often encounter a glitch called ribosomal frameshifting. This exceptionally ...
22 hours ago
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DNA 'switch' uncovers new brake on breast cancer growth
Adelaide University researchers have found a DNA "switch" that helps the body stop the growth of the most common form of breast cancer, providing new insights that could help with future treatments. Up to 80% of breast cancer ...
Nov 6, 2026
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Drug restores kidney cell function in experimental models of rare Lowe syndrome
Over two decades of research into the cellular mechanisms underlying Lowe syndrome have led to the identification of a potential therapeutic strategy for this rare genetic disorder, which affects the eyes, nervous system ...
Nov 6, 2026
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New research identifies biological differences in pancreatic cancer
New research from the University of Cincinnati Cancer Center found biological differences in pancreatic cancer tumors and immune environments, opening the possibility for more personalized treatments for different populations.
Nov 6, 2026
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Genetic variant may increase the risk of pneumonia
Pneumonia is a common and sometimes serious infection that affects 20,000–30,000 people in Sweden every year. Well-known risk factors include advanced age, smoking and underlying medical conditions. In a new study published ...
Nov 6, 2026
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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 ...
Nov 5, 2026
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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 ...
Nov 5, 2026
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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 ...
Nov 5, 2026
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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 ...
Nov 5, 2026
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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.
Nov 5, 2026
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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 ...
Nov 5, 2026
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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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