Screening newborns to help fight rare diseases
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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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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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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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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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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