The detection and management of inherited rare and serious conditions in routine care can be improved by genome sequencing, a new study involving the University of Aberdeen has found.
Dec 19, 2022
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Genetic testing in patients with epilepsy can inform treatment and lead to better outcomes in many cases, according to a new study published in JAMA Neurology.
Nov 30, 2022
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Tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases, finds a new study led by UCL researchers.
Nov 7, 2022
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For more than a decade, the Care4Rare Canada Consortium (Care4Rare) has provided answers for families living with undiagnosed rare disease. Care4Rare is an international trailblazer in rare disease, using cutting-edge technologies ...
Nov 3, 2022
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Colorectal cancer patients with certain clinical characteristics may benefit from more frequent chest imaging to help identify and target cancer that has spread to the lungs, according to new research presented at the Scientific ...
Oct 16, 2022
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A Singapore research team of clinicians and scientists has validated a cancer diagnostic assay designed with Asian-centric biomarkers that aims to enable early diagnosis and timely treatment delivery. These findings, published ...
Oct 14, 2022
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Since May 2022, cases of monkeypox have increased globally, stirring fears of a new pandemic. A study published in the open-access journal PLOS Pathogens on September 22 by Professor Souha Kanj and colleagues at the American ...
Sep 22, 2022
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Patients with ALS, one of the most serious neurological diseases known, have been hampered by the time it takes to receive an accurate diagnosis. The period between the onset of symptoms and diagnosis averages over a year, ...
Aug 31, 2022
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Scientists have identified a new genetic disease, which causes some children's brains to develop abnormally, resulting in delayed intellectual development.
Jun 24, 2022
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New research published in Developmental Medicine & Child Neurology indicates that early identification and treatment of patients with spinal muscular atrophy (SMA)—a genetic disorder characterized by weakness and wasting ...
Jun 8, 2022
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