Early genetic checks being developed by researchers with EU and industry funding will accelerate treatments for illnesses that affect millions of people in Europe.
Jun 27, 2024
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At Mayo Clinic, the mission to solve the unsolvable is at the heart of every rare disease case. Each diagnosis is a testament to perseverance, innovation and the relentless pursuit of answers.
Jun 24, 2024
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Researchers at the Francis Crick Institute, UCL Great Ormond Street Institute for Child Health and Great Ormond Street Hospital for Children (GOSH) have designed a new genetic therapy that could alleviate debilitating giant ...
Jun 17, 2024
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Approximately one in every 20,000 to 40,000 children born in Japan and about one in every 100,000 throughout the world bear a mutation in the WRN gene. This gene is responsible for producing the Werner protein, which belongs ...
Jun 12, 2024
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Researchers have identified inherited genetic variants that may predict the loss of one copy of a woman's two X chromosomes as she ages, a phenomenon known as mosaic loss of chromosome X, or mLOX. These genetic variants may ...
Jun 12, 2024
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VEXAS syndrome is a rare, adult-onset, life-threatening autoinflammatory disease caused by a genetic mutation. The pathophysiology is still unknown, but new work presented at the 2024 congress of EULAR—The European Alliance ...
Jun 12, 2024
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By studying mutations in yeast and human cells, Johns Hopkins Medicine scientists say they have found that biochemical bonds between fats and proteins in the mitochondrion, the cell's powerhouse, play a crucial role in how ...
Jun 7, 2024
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Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide. The work, published ...
May 31, 2024
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Cardiovascular diseases, including stroke and coronary artery disease are among the leading causes of death worldwide. Classical risk factors include age, personal lifestyle, and pre-existing conditions, but genetic predisposition ...
May 22, 2024
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First linked to mutations in the CHD7 gene in 2004, CHARGE syndrome is a rare genetic disorder occurring in approximately 1 in 8,500 to 15,000 births. According to the National Institute of Health (NIH), CHARGE syndrome is ...
May 7, 2024
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