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.
BRIDGES has helped 160 children with rare and undiagnosed conditions to receive proper diagnoses, and enabled doctors to provide better care to them and their families. In addition, six of these children were diagnosed with a new disease that had never been reported before, with two of these discoveries being led by the team of KKH clinicians and A*STAR scientists in Singapore…
Denise Crompton’s “Diagnosis: Rare Disease” offers a compelling look at 13 families who received the diagnosis no parents ever wants to hear. This gripping book provides a heartbreaking exposé of what life is like for families that have a member with a rare disease. Crompton details the journey of each family, including her own, who has one or more children with a rare disease called Mucolipidosis.