Singapore Undiagnosed Disease Program
Main Applicant – Dr Koh Ai Ling, Consultant, Paediatrics, KK Women’s and Children’s Hospital (KKH)

While individually rare, cumulatively rare genetic diseases affect between 5-8% of the population.

There are over 7000 known rare genetic diseases. Singapore Undiagnosed Disease Program aims to use advanced genomic technologies to understand the genetic aetiology of patients with suspected genetic disorders.

As part of the program, we aim to perform health technology assessment to understand the resource utilisation and cost effectiveness of using these genomic technologies in aiding diagnostics, and leverage on data within TRUST to estimate the cost involved with care of these rare genetic diseases.