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Community rallies to fundraise and support Kingsley kid Toby Jamieson living with extremely rare condition

A Kingsley mother is holding on to hope that a trip to the UK in June can provide some answers into an extremely rare, progressive and degenerative condition her eight-year-old son is suffering from. 

Natasha Bonhomme receives the Judi Tuerck Newborn Screening Follow-up and Education Award

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 Subscribe When you subscribe we will use the information you provide to send you these newsletters. Sometimes they’ll include recommendations for other related newsletters or services we offer. OurPrivacy Noticeexplains more about how we use your data, and your rights. You can unsubscribe at any time. Thank you for subscribingWe have more newslettersShow meSee ourprivacy notice 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.

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.

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.

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