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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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 ...
Apr 27, 2026
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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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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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A new study led by researchers at UNSW Sydney's Center for Healthy Brain Aging (CHeBA) has identified potential biological targets that could help guide future research into treatments for vascular dementia—a common and serious ...
13 hours ago
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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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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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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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Decades after researchers first sequenced the human genome, scientists throughout the world are still working to understand it. Despite diligent global efforts to link uncommon variations in DNA sequences with human disease, ...
9 hours ago
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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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