A gene variant found almost exclusively in the genomes of people of African ancestry increases the risk of developing Parkinson's disease, according to an international study of nearly 198,000 participants with this genetic ...
Aug 24, 2023
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When Dr. Bodo Beck first saw the three children of a family who had fled Syria sitting in his consultation room at University Hospital Cologne, the human geneticist was surprised. His genetic analysis diagnosed Bartter syndrome ...
Aug 23, 2023
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A new family of DNA elements which control the activation of certain genes known to cause a rare disease known as MSL3 syndrome in children has been identified.
Jun 12, 2023
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Sometimes scientists arrive at new findings and discoveries by chance. That was the case when Thilini Gamage was to carry out one of the studies in her doctoral work with Professor Eirik Frengen at the Institute of Clinical ...
May 16, 2023
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Britain's fertility regulator on Wednesday confirmed the births of the U.K.'s first babies created using an experimental technique combining DNA from three people, an effort to prevent the children from inheriting rare genetic ...
May 10, 2023
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Up to 40% of rare diseases show facial alterations that enable researchers to identify some pathologies, and they can even help establish an early diagnosis. Historically, the visual evaluation and use of some classic anthropometric ...
May 10, 2023
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Around 5,500 people with severe developmental disorders now know the genetic cause of their condition, thanks to a major nationwide study in the U.K. that will help improve diagnosis across the world.
Apr 12, 2023
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Statins are the most commonly used medication in lowering blood cholesterol, prescribed to tens of millions in the Western world. Statins act through inhibition of the enzyme HMG CoA reductase. Nearly 20% of statin users ...
Mar 21, 2023
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Using a new computational approach they developed to analyze large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues have discovered previously unknown genetic ...
Mar 16, 2023
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Researchers at the National Institutes of Health have discovered a new neurological condition characterized by issues with motor coordination and speech. They report their findings in npj Genomic Medicine.
Feb 10, 2023
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