Millions of people worldwide suffer from liver inflammation (hepatitis), an acute or chronic disease with a variety of causes. Liver inflammation frequently occurs in connection with metabolic disorders, for example fatty ...
14 hours ago
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Researchers at London Health Sciences Centre (LHSC) and Lawson Health Research Institute are using advanced technology and artificial intelligence (AI) to diagnose rare diseases and prenatal exposure-related birth abnormalities ...
Jul 31, 2024
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An international study has discovered that people living with the neurodegenerative condition spinal muscular atrophy (SMA) are at higher risk of developing fatty liver disease, suggesting that SMA patients may face additional ...
Jul 17, 2024
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A multicenter safety study at UC Davis Health tested a protein drug (INBRX-101), developed to improve care for people with alpha-1 antitrypsin deficiency (AATD), and showed the therapy is quite safe.
Jul 11, 2024
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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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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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