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Clinical genetics news
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 ...
19 hours ago
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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 ...
23 hours ago
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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 ...
22 hours ago
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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 ...
17 hours ago
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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 ...
13 hours ago
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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, ...
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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Gene variants help explain why food allergies run in families
People often remark that allergies run in their family, but the genetic causes have remained unclear. Previous food allergy genetic research has relied upon broad but surface-level methods called genome-wide association studies.
Feb 20, 2026
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Study reveals a specific genetic mismatch linked to life-threatening transplant complications
Umbilical cord blood transplantation has transformed the treatment options for patients with blood cancers and other life-threatening hematologic disorders, particularly when matched donors are unavailable. While cord blood ...
Feb 20, 2026
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DeepRare AI outperforms doctors on rare disease diagnosis in head-to-head test
Rare diseases are complex medical disorders that are notoriously difficult to diagnose because many present with a wide variety of symptoms that can overlap with more common illnesses. Currently, around 300 million people ...
Household cat could hold the key to understanding breast cancer
The first study of multiple cancer types in cats has identified genetic changes that could help treat the condition in humans and animals. By analyzing different types of tumors from almost 500 pet cats across five countries, ...
Feb 19, 2026
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AI tool debuts with better genomic predictions and explanations
Artificial intelligence has taken the world by storm. In biology, AI tools called deep neural networks (DNNs) have proven invaluable for predicting the results of genomic experiments. Their usefulness has these tools poised ...
Feb 19, 2026
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New method estimates Epstein-Barr virus in blood using standard genome sequencing data
The Epstein-Barr virus (EBV) can cause certain types of cancer or autoimmune diseases, but how the body controls this common viral infection is largely unknown. Researchers at the University Hospital Bonn (UKB) and the University ...
Feb 19, 2026
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Researchers drill down on genetic profiles to guide treatment for leukemia patients
Cancer researchers are making strides in efforts to use genetic profiling to develop a more precise understanding of the response to treatment of acute myeloid leukemia (AML), a rare but aggressive blood cancer.
Feb 19, 2026
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Urine DNA test may spot Lynch syndrome urinary cancers before symptoms
A pioneering genetic test is improving early diagnosis and treatment for people with hereditary cancer caused by a genetic condition. The test, developed with the help of Newcastle University scientists, identifies specific ...
Feb 19, 2026
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Telehealth genetic services increase uptake of counseling in childhood cancer survivors
For childhood cancer survivors, remote telehealth genetic services improve genetic counseling and testing uptake, according to a study published online Feb. 13 in The Lancet Regional Health—Americas.
Feb 19, 2026
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A genetic brake that forms our muscles: Variant linked to endurance may also raise odds of injury
In an international study, researchers at Lund University in Sweden have identified a gene variant that controls the body's capability to form new blood vessels in muscles—a mechanism that affects physical performance, ...
Feb 18, 2026
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Big data and human height: Scientists develop algorithm to boost biobank data retrieval and analysis
Extracting and analyzing relevant medical information from large-scale databases such as biobanks poses considerable challenges. To exploit such "big data," attempts have focused on large sampling algorithms that model individual ...
Feb 18, 2026
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Study splits schizophrenia genetic risk into two pathways, one shared with bipolar disorder
A new study by researchers at King's College London has split schizophrenia risk into two genetically distinct pathways. One is characterized by a shared genetic risk with bipolar disorder and associated with higher educational ...
Feb 18, 2026
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KRAS mutation type may guide more effective cancer treatments
KRAS is the most frequently mutated oncogene across all human cancers. Although different KRAS mutations have long been thought to exert the same cancer-driving effects, a new study led by UT Southwestern Medical Center researchers ...
Feb 18, 2026
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How age, sex and genetics shape our antibodies
Age, biological sex, and human genetic factors influence the production of antibodies during the immune response. A team of scientists from the Institut Pasteur, the CNRS and the Collège de France have shown that these factors ...
Feb 18, 2026
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Largest study of rare skin cancer in Mexican patients shows that it is more complex than previously thought
Genetic ancestry may play a key role in how acral melanoma, a rare and aggressive type of skin cancer, develops and behaves, with important implications for diagnosis and treatment, according to researchers at the Wellcome ...
Feb 18, 2026
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Aortic stenosis: 200 newly identified genes raise hope for future treatments
A new study on aortic stenosis, the most common form of heart valve disease, has identified more than 200 new genes that predispose individuals to this condition, for which no treatment currently exists. The discovery of ...
Feb 18, 2026
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Huntington's disease offers a rare clean test case for brain research
Neuroscience rarely enjoys clean experiments. Most brain disorders are mosaics of risk genes, aging, lifestyle and chance that leave their origins obscured. Huntington's disease (HD) is different. It begins with a single ...
Feb 18, 2026
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