Autor: Clinical genetics
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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 maps of DNA variant activity…
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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 in populations with Asian and…
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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 considered unprofitable.
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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 Medicine, could help guid…
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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 of CCND3, a gene that normally …
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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 range of genetic diseases, …
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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 (MPI) published in PLOS …
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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, the TadA-embedded adenine base ed…
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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 is known for its ability to …
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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 study, published in Nature Com…