Physicians are increasingly using genetic testing to unravel mysterious or rare diseases in patients with baffling symptoms. But untangling mystifying symptoms is only half the battle. The next frontier in genomic analysis ...
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A lipid (fat) whose anti-inflammatory activities were discovered by Cardiff University, with colleagues from Universities of Pittsburgh, Oregon and Michigan, is being developed into a new drug for the treatment of diseases ...
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A gene called triggering receptor expressed on myeloid cells 2, or TREM2, has been associated with numerous neurodegenerative diseases, such as Alzheimer's disease, Frontotemporal lobar degeneration, Parkinson's disease, ...
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Smith-Lemli-Opitz syndrome (SLOS) is a rare disease that occurs when patients inherit from both parents defects in the Dhcr7 gene, which encodes the last enzyme in the cholesterol biosynthesis pathway. A large portion of ...
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Researchers at the University of Basel have developed a test to quickly and reliably diagnose a rare and severe immune defect, hepatic veno-occlusive disease with immunodeficiency. They reported on their findings in the Journal ...
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A new addition to the fight against bacteria comes in the unlikely form of an organelle that previously had no link to the immune response. University of Alberta researchers have found that peroxisomes are required for cells ...
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Biomedical engineers have grown miniature human blood vessels that exhibit many of the symptoms and drug reactions associated with Hutchinson-Gilford Progeria Syndrome—an extremely rare genetic disease that causes symptoms ...
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A newly discovered biomarker associated with a rare metabolic disorder may facilitate better diagnosis and identification of new drugs for clinical trials for the disease, according to researchers in the Perelman School of ...
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Charlie Gard, the terminally-ill British baby whose plight drew sympathy from Pope Francis and US President Donald Trump and sparked a debate about medical ethics, died on Friday, his mother said.
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Fanconi anemia is a rare genetic disease characterized by hematologic symptoms that include low platelet count and unusually large red blood cells. Mutations in nearly 20 genes have been identified as causative for Fanconi ...
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