Genetic registry to be set up for deepening understanding of rare diseases in region

A genetic registry will be set up under the Genomics for Kids in ASEAN programme to help deepen understanding of rare genetic diseases in Southeast Asia.

- Judith Tan Correspondent

Announcing this at the annual KK Women’s and Children’s Hospital (KKH) Rare Disease Day, Dr Janil Puthucheary, Senior Minister of State for Education, said: “As Singapore develops our precision medicine capabilities, we will continue to share our experience with our ASEAN neighbours.

“Every genome sequenced and every variant discovered will strengthen knowledge that will benefit children across the region for years to come.”

Dr Janil, who is a trained paediatrician, added: “No single country sees enough cases to interpret every genetic variant or recognise every rare condition.

“By pooling our expertise and resources, we create something more powerful than the sum of our individual efforts. For families, this means that their child’s condition is studied not by one team, but by a network of regional experts committed to finding answers.”

He was speaking via video link at the event held on Feb 27 at KKH.

This ASEAN-specific genomic database is the first dedicated to understanding rare diseases and tailoring diagnostics and medical practices to the multi-ethnic populations in Singapore and the region.

Rare diseases are usually genetic and affect fewer than one in 200,000 individuals worldwide. In Southeast Asia, it is estimated that more than 10 million people, including children, live with undiagnosed rare diseases.

Many, including parents of children with rare conditions, said it has not been easy diagnosing them because of low awareness, a lack of scientific knowledge and the complexity of the ailments, resulting in an ordeal that can last several years.