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Genomics for KIDS in ASEAN (G4K)
Transforming Paediatric Healthcare Through Genomic Research
Rare diseases affect millions worldwide, with a significant impact on children. The journey to a diagnosis is often long and fraught with missteps, leading to delayed treatment and unnecessary healthcare costs. This is particularly true in Southeast Asia, where access to advanced genomic technologies is limited.
Genomics for KIDS in ASEAN (G4K) is our response to this challenge. Leveraging the expertise of the SingHealth Duke-NUS Maternal and Child Research Institute and the Institute of Precision Medicine, we aim to democratize access to genomic diagnostics across Southeast Asia, enhancing patient care and advancing medical research.
With a gift from the Temasek Foundation, our three-year program will focus on:
1.
Genomic Sequencing for Underserved Families
: We're identifying families across ASEAN with undiagnosed conditions, providing them with genetic counselling, and facilitating appropriate care.
2.
Capacity Building in the Region
: By establishing local infrastructure and conducting educational workshops, we're empowering clinicians and healthcare professionals with the knowledge to tackle genetic diseases.
3.
Developing an ASEAN Genetic Registry
: This registry will deepen our understanding of rare genetic diseases' epidemiology in the region.
Our holistic approach aims to shorten the diagnostic odyssey for rare diseases in ASEAN, offering hope to patients and families while fostering maternal and child health research.
Contact Us
For inquiries about the G4K, please contact:
Ms. Simone Ng
Email:
simone.ng.s.l@kkh.com.sg
Projects/ grants (awarded)
1)
Project SUNRISE:
Project SUNRISE (SingHealth Duke-NUS Precision Medicine Initiative) is an AMC wide initiative, partnering all the tertiary SingHealth institutes (SGH, SKH, CGH, KKH, NHCS, NNI, SNEC, NCCS, NDCS) as well as HSRC at Duke-NUS and SingHealth Duke-NUS Genomic Medicine (SD GMC) centre, in collaboration with Genome Institute of Singapore, A*STAR, to build the largest regional clinic-genomic dataset of patients. This project was funded by SingHealth Duke-NUS AMC (through the AM Strategic Endowed Fund) for a 3-year duration. PRISM is the overall lead for this project.
2)
Return of results to healthy participants under SG10
0K:
PRISM, in collaboration with SD GMC, is working with Precision Health Research, Singapore (PRECISE) to return clinically actionable results to healthy participants recruited under the SG100K project. The participants have been recruited across four cohorts- NUS, NHCS, SERI and NTU. PRISM is the overall lead for this project, and is involved in variant analysis, curation and return of results to the participants.
3)
Expanded Carrier screening:
PRISM, in collaboration with SingHealth Duke-NUS Maternal and Child Health Research Institute (MCHRI) and DxDHub, through support from PRECISE, have received funding from DxDHub to build an Asian carrier screening panel. This work was based off the work led by PRISM team under the SG10k_Med workgroup, which identified the carrier frequencies of recessive genetic diseases among the Singaporean population. Beyond that, PRISM and MCHRI have received philanthropic funding over a 3-year period to implement this carrier screening panel across the public healthcare institutes at KKH, SGH and NUHS. MCHRI is the lead for this project and PRISM is providing bioinformatic support for this project.
4)
EYE ACP – PRISM:
Precision Medicine Initiative, Prof Aung Tin, Dr Chen Ching-Yu. The EYE-ACP PRISM Precision Medicine initiative aims to systematically characterize genetic variants in human genomes by performing next generation sequencing in normal controls from the EYE ACP's Singapore Chinese Eye Study, as well as its clinical patients with inherited blinding ocular disorders, with the ultimate goal of facilitating precision medicine and optimizing the healthcare of Singapore's population.
5)
Genomics for KIDS in ASEAN:
MCHRI, in collaboration with PRISM, has received philanthropic funding for a 3-year period with the aim to improve access to genomic services, increase regional capacity and capability, and institute an ASEAN-specific genomic database to better understand rare diseases in South-East Asia. Since its inception in 2022, the program has benefited patients from Singapore, Vietnam, Indonesia, Malaysia, Timor Leste and Philippines. MCHRI is leading this project and PRISM is providing the bioinformatics support.
6)
CREPSING:
Collective Reflective Equilibrium in Practice in SINGapore: This proposal is being spearheaded by Centre for BioMedical Ethics (CBME) to explore the attitudes and preferences of the public in response to the ongoing and future genomic projects. The grant has been submitted to MOE under the SSRTG call. PRISM is supporting with the carrier screening aspect of the proposal.
5/28/2024 5:08 PM