Dr. Saumya Shekhar Jamuar

Dr Saumya Jamuar is a Board Certified Clinical Geneticist and brings extensive expertise in genomic medicine, pediatric genetics, and rare disease diagnosis to the Centre for Precision Health and Paediatrics.

Dr Jamuar was previously a Senior Consultant at KK Women’s and Children’s Hospital in Singapore. He held several prestigious leadership positions including Director of the SingHealth Duke-NUS Institute of Precision Medicine, Inaugural Head of SingHealth Duke-NUS Genomic Medicine Center, Lead Principal Investigator of the Singapore Childhood Undiagnosed Disease Programme, and is the Chair of Chapter of Genomic Medicine, Academy of Medicine, Singapore.

His academic journey includes graduation from the National University of Singapore, pediatric training at SingHealth, and fellowship training in clinical genetics at Harvard Medical School. He also completed a post-doctoral fellowship in the Christopher A. Walsh Lab at Harvard Medical School.

Selected publications (from over 130 publications, ORCID ID 0000-0003-2341-8349)

1. Jamuar Saumya S; … Walsh Christopher A. Somatic mutations in cerebral cortical malformations. The New England journal of medicine 2014; 371(8):733-743.

4. Groza T, … Jamuar SS, Baynam G. First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case. Am J Hum Genet. 2025 May 1;112(5):1158-1172. doi: 10.1016/j.ajhg.2025.03.014. Epub 2025 Apr 16. PMID: 40245863.

5. Raven-Adams MC, .., Jamuar SS, Lewis ACF. Defining and pursuing diversity in human genetic studies. Nat Genet. 2024 Oct;56(10):1985-1988. doi: 10.1038/s41588-024-01903-7. PMID: 39251787.

6. Baynam G, …, Groza T, … Jamuar SS,..Groft S. Global health for rare diseases through primary care. Lancet Glob Health. 2024 Jul;12(7):e1192-e1199. doi: 10.1016/S2214-109X(24)00134-7. PMID: 38876765.

7. Chen E, …, Jamuar SS, …, Aradhya S. Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing. JAMA Netw Open. 2023 Oct 2;6(10):e2339571. doi: 10.1001/jamanetworkopen.2023.39571. PMID: 37878314; PMCID: PMC10600581.

8. Chan Sock Hoai; …; Jamuar Saumya S; … Lim Weng Khong. Analysis of clinically relevant variants from ancestrally diverse Asian genomes. Nature communications 2022; 13(1):6694-NA (co-corresponding author)

9. Bylstra Yasmin; …; Jamuar Saumya Shekhar; … Tan Patrick. Family history assessment significantly enhances delivery of precision medicine in the genomics era. Genome medicine 2021; 13(1):3-NA

10. *D’Gama Alissa M;…Jamuar Saumya S; …Walsh Christopher A. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron 2015; 88(5):910-977.

Dr Jamuar identified the world’s first known case of a rare genetic syndrome named “Jamuar Syndrome”

Dr Jamuar has published research in top-tier journals including The New England Journal of Medicine, Nature Genetics, Neuron, and Nature Communications

Dr Jamuar is leading global expert in childhood undiagnosed diseases and precision medicine