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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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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AL (immunoglobulin light chain) amyloidosis is a rare disease that often results in progressive organ dysfunction, organ failure and eventual death.
Jun 26, 2024
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Aicardi-Goutieres syndrome is a rare disease that can trigger dementia in children. Associate Professor Markus Hofer and colleagues in the U.K. are focusing on treatments in the blood vessels in the brain to combat AGS.
Jun 26, 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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