Improving diagnosis of rare genetic diseases in children

As much as 8% of the Thai population is affected by rare genetic diseases. Patients with rare diseases typically endure around seven years of investigation. Timely diagnosis can mean improved healthcare and better life outcomes, as well as savings in the health system.

Using the recognised expertise of the UCL Great Ormond Street Institute of Child Health, this Newton Fund project supported Chulalongkorn Paediatrics to develop their own genomics platform and supporting analytics and infrastructure. This has translated into patient benefit by solving around 100 undiagnosed cases through the sequencing, analysis and diagnosis of children with debilitating disorders.

As well as supporting the patients and their parents and informing treatments, the collaboration has also enabled genetic counselling and prenatal diagnoses for families at risk. Improved diagnoses and clinical management will drive significant savings across the Thai health system.

"This unique funding opportunity has made a huge difference to dozens of Thai families who have been searching for causes of their child's illness for several years. Furthermore, it has catapulted genetics services in Bangkok to serve thousands more children and their families." 
Professor Philip Beales

This Newton Fund grant was awarded through the British Council.

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