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Scientists find gene mutation linked to exfoliation syndrome,most common cause of glaucoma


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IMAGE: Eye of a patient with exfoliation syndrome. The typical white exfoliation material deposits on the surface of the lens are visible (red arrows) with the aid of a slit lamp.
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Credit: Agency for Science, Technology and Research (A STAR) s Genome Institute of Singapore,(GIS), Singapore Eye Research Institute (SERI)
SINGAPORE - A team of researchers from the Agency for Science, Technology and Research s (A STAR) Genome Institute of Singapore (GIS) and Bioprocessing Technology Institute (BTI), as well as Singapore Eye Research Institute (SERI), have identified a genetic mutation (functionally defective CYP39A1 gene) associated with exfoliation syndrome, the most common cause of glaucoma. The findings could pave the way for future research on the cause of exfoliation syndrome and potential cures. Their research was published in Journal of the American Medical Association (JAMA) on 24 February 2021. ....

United States , Harvard University , Diane Kaneb , David Friedman , Agency For Science , Ophthalmology At Harvard University , Technology Organisation , Journal Of The American Medical Association , Singapore Eye Research Institute , Genome Institute Of Singapore , Bioprocessing Technology Institute , Glaucoma Service , Genome Institute , American Medical Association , Patrick Tan , Executive Director , Maung Tin , Deputy Medical Director , Diane Kaneb Chair , Massachusetts Eye , Ear Infirmary , Precision Medicine , Population Genomics , Genome Informatics , Single Cell Systems , Epitranscriptomic Regulation ,

Over one in 3 rare childhood disorders diagnosed in 6 years


Credit: A STAR s Genome Institute of Singapore (GIS)
22 December 2020, Singapore - For over 20 years, the Genetics Service at the KK Women s and Children s Hospital (KKH) has been providing clinical care to patients with genetic
disorders. In 2014, BRIDGES (Bringing Research Innovations for the Diagnosis of GEnetic diseases in Singapore) was set up, in collaboration with genomic research institutes at SingHealth, Agency for Science, Technology and Research (A STAR) and Duke-NUS to synergise the diagnostic efforts and patient outcome management.
After six years, the KKH has met the goals set out in its BRIDGES programme, achieving 39 per cent in diagnostic yield through identifying more patients with genetic mutations. This result is on par with similar research programmes globally which have a diagnostic yield of 25 to 40 per cent. ....

United States , Roger Foo , Saumya Jamuar , Charlotte Sam , Lyn Lai , Genomic Medicine Center , Chromatin Organisation , Agency For Science , Nature Communications , Strategic Positioning Fund , Lee Kong Chian School Of Medicine , Ministry Of Health , National Medical Research Council , Accreditation Council For Graduate Medical Education International , Genetics Service , Principal Investigator Of The Biomedical Research Council , Wiley Online Library , Genetics Services , Department Of Paediatrics , Yong Loo Lin School Of Medicine , Biomedical Research Council , Genome Institute Of Singapore , Office Of Corporate Communications , Corporate Communications , Research Innovations For The Diagnosis , Academic Medical Centre ,