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Clinical genetics news
Life-changing drug identified for children with rare epilepsy
A new experimental treatment for children with a hard-to-treat form of epilepsy is safe and can reduce seizures dramatically, helping them lead much healthier and happier lives, according to the findings of a UCL (University ...
11 hours ago
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A promising potential therapeutic strategy for Rett syndrome
A team of researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital reports in Science Translational Medicine a potential new approach to treat Rett ...
14 hours ago
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Key DNA changes in the brains of people with Alzheimer's disease identified
In a study published in Nature Communications, Mayo Clinic researchers have identified specific DNA-level changes in the brains of people with Alzheimer's disease (AD). Using advanced biological analysis, the team mapped ...
Mar 3, 2026
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Tracking mysteries of loss of Y chromosome, cancer
The Y chromosome is among the smallest in the human body and carries the fewest genes. Researchers are paying renewed attention to its role in cancer—specifically, what happens when it vanishes.
Mar 2, 2026
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New knowledge on heritability paves the way for better treatment of chronic inflammatory bowel disease
Approximately 60,000 Danes live with chronic inflammatory bowel disease. Some experience limited discomfort, while others go through a debilitating disease course involving surgery and a stoma. Add to this the fear of leaving ...
Mar 2, 2026
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What is a 'cancer gene'? How genetic mutations lead to cancer
An estimated 170,000 Australians were diagnosed with cancer in 2025. Many people know the causes of cancer are partly genetic. But how do your genes, which contribute so much of what makes you you, change what they do and ...
Mar 1, 2026
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Jumping 'DNA parasites' linked to early stages of tumor formation
A study published in the journal Science reveals how jumping fragments of human DNA, a type of genetic parasite, destabilize the cancer genome. Unstable genomes are a fertile playground for cancer evolution, giving malignant ...
Feb 26, 2026
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Study reveals genetic balancing act between autoimmunity and cancer risk
An autoimmune disorder that affects the thyroid gland, called autoimmune hypothyroidism (AIHT), is the most common autoimmune disease, yet it remains largely understudied. New research from scientists at Broad Institute, ...
Feb 26, 2026
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Cigarette smoke accelerates eye aging via epigenetic changes, study finds
Through a series of experiments supported by the National Institutes of Health, Johns Hopkins Medicine (JHM) researchers say they have advanced understanding of how smoking damages the eye and contributes to the development ...
Feb 26, 2026
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The developing Down syndrome brain: Scientists create most detailed molecular map to date
Scientists from Duke-NUS Medical School, working with collaborators at Imperial College London and partners in Europe and the United States, have uncovered new insights into how an additional copy of chromosome 21 alters ...
Feb 26, 2026
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Chondrocytes' behavior reveals novel targets for bone growth disorders
Achondroplasia, also known as short-limb dwarfism, is associated with neurological symptoms and complications due to narrowing of the skeletal structures surrounding the spinal cord. Despite achondroplasia being the most ...
Feb 26, 2026
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Is a baby's heart defect hereditary? A NOTCH1 methylation test may clarify
One to two out of every 100 newborn babies are born with a Congenital Heart Defect (CHD), yet the exact cause remains unclear. Human geneticists at the University Medicine Oldenburg (Germany) have now presented a new method ...
Feb 26, 2026
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Study identifies erythropoietin as a potential active ingredient in Primrose syndrome
A research team from Mannheim, Göttingen, Varna, and Princeton has discovered in animal studies with mice that the growth factor recombinant human erythropoietin (rhEPO) can significantly improve cognitive and social problems ...
Feb 26, 2026
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Scientists sharpen genetic maps to help pinpoint DNA changes that influence human health traits and disease risk
Scientists have identified how specific genetic changes function in cells to influence disease risk and other human health traits. By probing regions of DNA previously linked to disease, the work has created high-resolution ...
Feb 25, 2026
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Vitamin B3 therapy offers hope for fatal childhood disease
Scientists at Gladstone Institutes have flipped the traditional approach to finding potential treatments for deadly diseases. Instead of starting with a disease and hunting for a cure, they began with vitamins and systematically ...
Feb 25, 2026
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'Off the shelf' immunotherapy could get a lift from gene-edited natural killer cells
Since scientists first discovered that human immune cells could be modified to become cancer-fighting agents, they've been trying to engineer a cell that's effective against solid tumors, which account for the vast majority ...
Feb 25, 2026
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Could a gene lower nicotine dependence? What a CHRNB3 variant suggests
Variants in a nicotine receptor gene are associated with a lower likelihood of heavy smoking, according to a study published in Nature Communications. The findings are based on data from populations in Mexico and validated ...
Feb 24, 2026
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Genetics helps explain who gets the 'telltale tingle' from music, art and literature
Why do some people feel chills when listening to music, reading poetry, or viewing a powerful work of art, while others do not? New research by Giacomo Bignardi and his colleagues from Max Planck Institute for Psycholinguistics ...
Feb 23, 2026
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Rare genetic variant protects against malaria-causing parasite by making red blood cells bigger
Scientists have found that a special component in some people's blood provides them with natural protection against malaria. A recent study has demonstrated that a genetic variant named rs112233623-T reduces the activity ...
Engineers sharpen gene-editing tools to target cystic fibrosis
Engineers at the University of Pennsylvania and Rice University have refined a technology for editing individual genetic "base pairs" to a new level of precision, opening the door to safer, more reliable therapies for a wide ...
Feb 23, 2026
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New targeted base-editing tool corrects genetic brain disorder in mice
Researchers have found that a new base-editing gene therapy can help treat a rare neurodevelopmental disorder called Snijders Blok–Campeau syndrome caused by mutations in the CHD3 gene. A specialized gene-editing tool, ...
Study reveals why some immune disorders trigger severe food allergies, and others don't
A new study has shed light on why patients with certain rare immune disorders develop severe, food-triggered allergic reactions while others with similar diagnoses do not. The findings, published in the Journal of Experimental ...
Feb 23, 2026
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FDA proposes new system for approving customized drugs and therapies for rare diseases
Federal health officials on Monday laid out a proposal to spur development of customized treatments for patients with hard-to-treat diseases, including for rare genetic conditions that the pharmaceutical industry has long ...
Feb 23, 2026
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Toxic exposure creates disease risk over 20 generations, epigenetic inheritance study suggests
A single exposure to a toxic fungicide during pregnancy can increase the risk of disease for 20 subsequent generations—with inherited health problems worsening many generations after exposure. Those are the findings of ...
Feb 20, 2026
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Down syndrome study sheds new light on early brain development
A research team led by scientists at Queen Mary University of London and University College London (UCL) has found new clues about how the brains of people with Down syndrome develop differently from a very early age. The ...
Feb 20, 2026
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