KKH is embarking on Asia-first research collaborations with PacBio and Takeda Global to advance diagnoses and treatment for rare and unresolved diseases in children.

Our team has been at this for more than 30 years. Collaborations with international leaders in biosciences are absolutely key in our ongoing work of demystifying our patients’ genetic odyssey, and helping them and their families to better live alongside their conditions and lead fulfilling lives,” shares Associate Professor Tan Ee Shien, Head and Senior Consultant, Genetics Service, KKH, who is also Head, SingHealth Duke-NUS Genomic Medicine Centre.

A new paradigm in mapping genetic variations

The KKH Genetics Service commemorates its 30th anniversary in 2022. Together with Pacific Biosciences of California, Inc. (PacBio), the KKH team is investigating possible disease-associated variants in unresolved neurodevelopmental disorder cases, using HiFi long-read sequencing technology. This can help to increase the chances of rare disease diagnoses and inform targeted clinical management for patients.

3D facial analytics to unlock clues to genetic diseases

KKH clinical researchers will also begin a collaborative study aimed at providing targeted therapies and improved management outcomes to children diagnosed with Hereditary Angioedema (HAE), a rare genetic disorder. Led by Dr Saumya Jamuar, Senior Consultant, Genetics Service, KKH, the study will be conducted in partnership with KKH Allergy Service, Singapore General Hospital, Tan Tock Seng Hospital and National University Health Systems.

Through a new agreement between Takeda Global, SingHealth, King Edward Memorial Hospital, Australia, Curtin University and FrontierSI in March 2022, KKH clinicians will analyse 3D facial images of patients with HAE using the Cliniface software to understand variants related to this genetic disease, and share data across a multi-national research platform across the Asia-Pacific region. The collaboration is expected to impact more than 300 million people globally.