LONDON – A world-first scientific study, published today in the New England Journal of Medicine, has shown that whole genome sequencing (WGS) can uncover new diagnoses for people across the broadest range of rare diseases investigated to date and could deliver enormous benefits across the NHS. The pilot study of rare...
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NEW YORK — Incorporating whole-genome sequencing into healthcare around Stockholm has enabled more than 1,000 people with a rare disease to receive a molecular diagnosis, a new study has found. The Karolinska University Hospital and the Science for Life Laboratory (SciLifeLab) launched the Genomic Medicine Center Karolinska-Rare Disease (GMCK-RD), an...
NEW YORK — Whole-genome sequencing could serve as an alternative to cytogenetic analysis for acute myeloid leukemia or myelodysplastic syndromes, a new study has found. For AML and MDS, genetic abnormalities — typically chromosomal rearrangements — are used to classify patients into favorable, unfavorable, or intermediate risk groups, which then...
A streamlined whole-genome sequencing approach can provide rapid and accurate genomic profiling for acute myeloid leukemia (AML) or myelodysplastic syndromes, according to a study published in the March 11 issue of the New England Journal of Medicine. Eric J. Duncavage, M.D., from the Washington University School of Medicine in St....
Arlington, Texas – A multi-institutional study co-authored by University of Texas at Arlington scientists uncovered a mechanism by which cancer cells prevent the immune system from activating and attacking the cancerous invaders. The study, published in the peer-reviewed journal Cell Reports, sheds light on why immunotherapy treatments don’t work for all...
Doha, Qatar – In the heart of Doha’s Education City, a vast, sun-bleached campus of tech companies and universities, lies a healthcare facility that Qatar hopes will become a beacon of personalised medicine within the Middle East. Defined by the giant glass and ceramic wings which adorn the outside of...
ORLANDO – The majority of men who receive one of the standard treatments for localized prostate cancer – surgery or radiation therapy – have an excellent outcome. But for the small group whose prostate cancer returns, a new study offers insight as to why treatment isn’t effective. The study –...
WICKLOW town joined the global chain of lights celebrating Rare Disease Day
AUGUSTA, Ga. — The Nintendo Wii may help treat symptoms of Parkinson’s disease, including depression, a Medical College of Georgia researcher says. Parkinson’s disease is a degenerative disease that impairs motor skills. Dr. Herz theorized that the popular computer game console, which simulates various sports and activities, could improve coordination,...
CHAPEL HILL, NC – University of North Carolina at Chapel Hill scientists created a new drug delivery system, called the Spatiotemporal On-Demand Patch (SOP), which can receive commands wirelessly from a smartphone or computer to schedule and trigger the release of drugs from individual microneedles. The patch’s thin, soft platform...