Genes can indirectly influence the age at which girls have their first period by accelerating weight gain in childhood, a known risk factor for early puberty, a Cambridge-led study has found. Other genes can directly affect ...
Jul 1, 2024
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When Michael Pirovolakis received an individualized gene therapy in a single-patient clinical trial at The Hospital for Sick Children (SickKids) in March 2022, the course of his condition was dramatically altered.
Jun 28, 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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Patients with a genetic syndrome called NF2-related schwannomatosis (NF2-SWN) have tumors that develop on the covering of the brain or grow along the nerves in the brain, spinal cord, and/or other locations in the body.
Jun 24, 2024
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Researchers at the Pacific Northwest Research Institute (PNRI) and collaborating institutions have made a discovery that could significantly advance our understanding of genomic disorders. Their latest study, published in ...
Jun 21, 2024
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It's been enormously difficult to pinpoint the cause of many cancers—and many seem to have more than one origin. Fibrolamellar carcinoma (FLC), however, is one that scientists thought they had nailed down.
Jun 18, 2024
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In a study of 991 adults, scientists at DZNE have shown that the most common forms of frontotemporal dementia (FTD) as well as the neurological diseases amyotrophic lateral sclerosis (ALS) and progressive supranuclear palsy ...
Jun 18, 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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Research led by UCLA Health reveals that Black patients with Huntington's disease in the U.S. and Canada received their diagnoses, on average, one year later compared to white patients after symptoms first appear.
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