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Clinical genetics news
Rare bone disease mutation linked to kidney failure pathway, mouse study shows
Researchers at University of Tsukuba have elucidated the molecular pathogenesis of multicentric carpotarsal osteolysis (MCTO), a rare hereditary disorder that frequently results in renal failure. Using a mouse model, they ...
7 hours ago
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Antisense oligonucleotide strategy reverses HNRNPH2-related neurodevelopmental disorder
Scientists at St. Jude Children's Research Hospital have found that they can reverse the effects of HNRNPH2-related neurodevelopmental disorder using antisense oligonucleotides (ASOs) in preclinical models. ASOs are short ...
Apr 26, 2026
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Postmenopausal white women with genetic risk regain weight two times faster
In a new study of women in post-menopause, white women with higher genetic risk of obesity regained weight about two times faster than white women whose genetic risk was lower. Black women in the study regained weight at ...
Apr 25, 2026
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Gene therapy targets untreatable cystic fibrosis mutation affecting about 10% of patients
Cystic fibrosis is among the most common, known and studied genetic diseases. It affects over 100,000 people worldwide and reduces life expectancy mainly as it causes lung and respiratory problems. Over the years, scientific ...
Apr 24, 2026
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Epigenome map reveals how blood sugar-regulating cells change in type 2 diabetes
Researchers at Lund University in Sweden have carried out the most detailed mapping to date of the epigenome in the cells that regulate the body's blood sugar levels. The study, published in Nature Metabolism, shows how chemical ...
Apr 24, 2026
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Genetic study reveals likely cause of common heart valve defect
New clues from genetic research may help explain what causes the most common heart defect present at birth. Researchers at KTH Royal Institute of Technology and Karolinska Institutet have identified rare DNA changes during ...
Apr 24, 2026
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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, ...
Apr 23, 2026
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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 ...
Apr 23, 2026
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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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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 ...
Apr 23, 2026
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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, ...
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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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 ...
Apr 23, 2026
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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 ...
Apr 23, 2026
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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 ...
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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