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Clinical genetics news
Vitamin D may help prevent diabetes, depending on genes
More than two in five U.S. adults have prediabetes, a condition marked by higher-than-normal blood sugar levels that often leads to type 2 diabetes. A new study finds that vitamin D may help delay or prevent that progression, ...
17 hours ago
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Gene-screen strategy separates Parkinson's promoters from protectors, revealing new drug targets
A novel strategy that combines computational and experimental approaches has allowed researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital to distinguish ...
18 hours ago
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Astrocytes reveal fragile X pathway tied to seizures and synapse problems
Fragile X syndrome (FXS) is an inherited genetic developmental condition that strongly impacts brain development. Despite the syndrome stemming from an altered genetic code for the single protein fragile X messenger ribonucleoprotein ...
18 hours ago
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Genetic test forecasts chemo response in breast cancer
A new study from Karolinska Institutet shows that gene analysis of breast cancer tumors can identify patients who do not benefit from chemotherapy given before surgery. The findings, published in the journal Nature Communications, ...
20 hours ago
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Genetic clues in 3,000 Indians reveal new lipid routes to cardiometabolic disease
A study conducted in an Indian population has identified new molecular pathways that contribute to cardiovascular disease, which had not been reported previously in studies of Europeans. Dharambir Sanghera of the University ...
19 hours ago
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Uncovering hidden genetic risks for early-onset and familial colorectal cancer
Researchers and clinicians from National Taiwan University (NTU) and NTU Hospital have compiled the first large-scale genetic database for colorectal cancer (CRC) in Taiwan. This initiative identified inherited genetic abnormalities ...
17 hours ago
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Novel tool more accurately predicts risk of Li-Fraumeni syndrome
In a prospective validation study, researchers at The University of Texas MD Anderson Cancer Center have demonstrated that a new mathematical model called LFSPRO was effective in supporting genetic counselor decision-making ...
17 hours ago
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3D DNA switch in brown fat could reshape obesity and diabetes treatment
Most fat stores energy; the body's brown fat does the opposite. Unlike the white fat that accumulates just under our skin, brown fat burns calories and glucose to generate heat. Formally known as brown adipose tissue, it ...
Apr 23, 2026
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Unraveling the evolution of leukemia in children with Down syndrome
It may be possible to identify which pre-cancerous cells will develop into a rare type of blood cancer, due to new research showing that a single genetic change drives myeloid leukemia in children with Down syndrome.
Apr 23, 2026
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A hidden DNA region helps drive frailty, exposing brain and immune links that reshape aging risk
Researchers at McMaster University have identified, for the first time, a novel region of DNA and two associated genes connected to frailty, offering neurological and immune-related insights that might help explain why some ...
Apr 22, 2026
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Study explores the genetic basis of an encephalopathy associated with epilepsy and autism
SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment. It causes epilepsy, intellectual disability, psychomotor delay and, frequently, autism. It arises from mutations in the SYNGAP1 gene, which ...
Apr 22, 2026
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Unexpected cancer mutations in brain's immune cells may help fuel Alzheimer's disease
As the body ages, cells naturally accumulate dozens of genetic mutations each year. New research from Boston Children's Hospital, published in Cell, finds that the brain's resident immune cells, microglia, amass mutations ...
Apr 21, 2026
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How a key regulatory protein guides cartilage formation during embryonic development
Sox9, a master regulator of cartilage formation, switches its target genes dynamically during embryonic limb development instead of following a fixed program, as reported by researchers from Science Tokyo. They analyzed mouse ...
Apr 21, 2026
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A newly uncovered gene switch rewires infant heart cells and opens a treatment path for a deadly disease
Researchers from the Keck School of Medicine of USC have made an important advance toward understanding—and potentially treating—a rare cardiomyopathy (heart muscle disease) that is present from birth. The condition, known ...
Apr 20, 2026
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Bowel cancer immunotherapy clinical trial follow-up shows zero relapses
Patients with a specific type of bowel cancer who were treated with a short course of immunotherapy before surgery instead of post-op chemotherapy have remained cancer-free after almost three years of follow-up, according ...
Apr 20, 2026
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AACR: Zedoresertib and lunresertib combination shows promising antitumor activity
For patients with advanced solid tumors harboring specific genetic alterations, the first-in-class synthetic lethal combination of WEE1 inhibitor zedoresertib plus PKMYT1 inhibitor lunresertib demonstrated promising antitumor ...
Apr 20, 2026
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Sex differences in brain gene activity could explain why some disorders affect men and women differently
The physical differences between men and women are all too obvious, but the biological divide goes right down to the cellular level in the brain, according to a new study published in the journal Science.
Waves of gene control reveal how a key gene times limb development
In a new study published in Genes & Development, research led by Dr. Lila Allou at the MRC Laboratory of Medical Sciences (LMS) in London and Professor Stefan Mundlos at the Max Planck Institute for Molecular Genetics and ...
Apr 17, 2026
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Programming the immune system to manufacture its own therapeutic proteins
An innovative gene-editing strategy could establish a new way for the body to manufacture therapeutic proteins—including certain kinds of highly potent antibodies that are naturally difficult to produce—by reprogramming the ...
Apr 16, 2026
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Epilepsy gene implicated in severe migraine disorder
Investigators led by Northwestern Medicine scientists have identified mutations in a gene coding for a key ion channel in the brain as a new cause of a debilitating form of migraine, according to a study published in Brain. ...
Apr 16, 2026
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Lab-grown mini-brains shed light on childhood epilepsy
Why does the same genetic mutation cause a severe brain malformation in some patients but not in others? Researchers from the MOSAIC team at the Paris Brain Institute have developed mosaic human cortical organoids carrying ...
Apr 16, 2026
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A powerful new cancer map tracks hundreds of mutations to one escape route and exposes a drug target
Diseases like cancer or neurodegeneration are known to arise from genetic misfires. But treating such complex conditions hasn't been simply a matter of identifying the malfunctioning genes involved. With hundreds of genetic ...
Apr 15, 2026
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Genome-wide analysis reveals host–virus genetic interactions in cancer risk
A study from Columbia University Mailman School of Public Health reports a major advance in understanding how interactions between human and viral genomes shape disease risk. The research found that variations in the Epstein–Barr ...
Apr 15, 2026
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RNA sequencing platform unlocks rare disease diagnoses missed by standard tests
Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how genetic variants disrupt gene function and improve the diagnosis of rare diseases.
Apr 15, 2026
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A major cancer protein hijacks RNA editing, exposing a new weakness in prostate tumors
Northwestern Medicine scientists have uncovered an unexpected role for a well-known cancer-related protein, revealing a new layer of genetic regulation that could reshape how certain cancers are treated. In a new study published ...
Apr 15, 2026
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