MeSH tree: C18.452.648
Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how genetic variants disrupt gene function and improve the diagnosis of rare diseases.
Apr 15, 2026
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In 2025, baby KJ Muldoon became the first person to receive a personalized gene editing treatment, which likely saved his life. But the scientific advances that made the groundbreaking treatment possible were years in the ...
Apr 14, 2026
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Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have used a genetic sequencing technique called whole exome sequencing to discover a new rare genetic disease. In ...
Apr 13, 2026
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U.S. medical organizations are looking to reduce deaths caused by heart disease, the nation's No. 1 killer, with new guidelines that reframe prevention as a lifelong battle that begins with testing in childhood.
Apr 11, 2026
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An Australian-led international research collaboration has delivered a promising breakthrough in the quest to better understand and treat childhood dementia. Recently published in the journal Nature Communications, the study ...
Apr 7, 2026
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A collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has integrated whole genome sequencing into routine diagnostic investigations for rare diseases at Karolinska University Hospital. ...
Mar 30, 2026
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Chinese researchers have developed a novel and highly efficient mitochondrial capsule transplantation therapy, achieving the safe and efficient transplantation of healthy mitochondria into cells and tissues for the first ...
Mar 23, 2026
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In a clinical practice guideline issued by the American College of Cardiology, the American Heart Association, and nine other leading medical associations, updated recommendations are presented for managing dyslipidemia. ...
Mar 16, 2026
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Sildenafil—an active ingredient also marketed under the name of Viagra—improves symptoms in patients with Leigh syndrome. This has now been reported in the journal Cell by researchers at Charité—Universitätsmedizin Berlin, ...
Mar 11, 2026
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Treatment with glucagon-like peptide-1 receptor agonists (GLP-1 RAs) for type 2 diabetes and obesity is independently associated with a significantly increased five-year risk for osteoporosis, gout, and osteomalacia compared ...
Mar 6, 2026
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