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'Silence must end' - call for action on baby deaths of 'related' couples

Silence must end - call for action on baby deaths of related couples
An inquiry into infant mortality finds baby death rates in Birmingham are nearly double the national average - with a significant number involving cousin couples
17:13, 9 APR 2021
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Prominent campaigner Nazir Afzal today urged community leaders in Birmingham to act with urgency over the number of babies who die or are disabled by congenital disorders as a result of being born to cousins. ....

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Over one in three rare childhood disorders diagnosed in six years

• Sets pace for targeted therapy development among those diagnosed
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. ....

Roger Foo , Saumya Jamuar , Charlotte Sam , Lyn Lai , Genomic Medicine Center , Chromatin Organisation , Agency For Science , Strategic Positioning Fund , Ministry Of Health , National Medical Research Council , Genetics Service , Hepatology Nutrition Service , Genetics Services , Department Of Paediatrics , Biomedical Research Council , Genome Institute Of Singapore , Research Innovations For The Diagnosis , Academic Medical Centre , Principle Investigator Of The Biomedical Research Council , Paediatric Academic Clinical Programme , Bringing Research Innovations , Professor Phua Kong Boo , Senior Consultant , Nutrition Service , Patrick Tan , Executive Director ,

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 ,

Researchers establish BRIDGES program to synergize diagnostic efforts, patient outcome management

Researchers establish BRIDGES program to synergize diagnostic efforts, patient outcome management
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 synergize the diagnostic efforts and patient outcome management.
After six years, the KKH has met the goals set out in its BRIDGES program, 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. ....

Roger Foo , Saumya Jamuar , Emily Henderson , Genomic Medicine Center , Agency For Science , Genetics Services , Chromatin Organization , Genome Institute , Genetics Service , Research Innovations For The Diagnosis , Hepatology Nutrition Service , Department Of Pediatrics , Principal Investigator Of The Biomedical Research Council , Bringing Research Innovations , Professor Phua Kong Boo , Senior Consultant , Nutrition Service , Executive Director , Senior Group Leader , Molecular Epigenomics , Principal Investigator , Biomedical Research Council , Singapore Rare Disease , Next Generation Sequencing , Rapid Genomic Sequencing , Medicine Center ,