Trainee Paper Spotlight: February 2019


Saumya Jamuar

Trainee Author: Saumya Jamuar, MBBS
MRCPCH Attending, Genetics Service, Department of Paediatrics, KK Women’s and Children’s Hospital, Singapore
Asst Professor, Paediatrics ACP, Duke-NUS Medical School, Singapore
Clinical Director, Institute of Precision Medicine (PRISM), Duke-NUS Medical School, Singapore
PI and Clinical Lead, Singapore Undiagnosed Disease Programme, Singapore
Co-founder and co-Chief Scientific Officer, Global Gene Corp
(Photo courtesy Jamuar)

Jamuar SS, Schmitz-Abe K, et al. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nature Genetics. 2017 Apr;49(4):606-612

S.S. Jamuar, K. Schmitz-Abe, et al. report a new syndrome, “developmental split-brain syndrome”, that is caused by biallelic loss-of-function mutations in DCC (‘deleted in colorectal carcinoma’). This study sheds light on a rare disease that has broad implications, as a “split-brain” phenomenon wherein connection between the two hemispheres of the brain has been well studied and implicated in many neurodevelopmental disorders. Biallelic mutations in DCC cause wide disruptions in neuronal commissures and clinical features of horizontal gaze palsy, intellectual disability, and scoliosis.

Training & Development Committee: Could you describe your research for us?

Dr. Jamuar: My research can be classified into two broad categories — rare diseases and precision health. I am the PI of the Singapore Undiagnosed Disease Programme, through which we enrol patients with rare disorders in Singapore as well as in South East Asia and use genomic technologies to identify novel genes. In my role as the Clinical Director of PRISM, I study the implementation and impact of genomics at the population level in Singapore. Finally, as the co-CSO of Global Gene Corp, I work on building an understanding of the genetics of different populations and their ethnicities, solving the genomic data bias from under-represented populations from regions such as South Asia, Middle-East, Far East, Latin America and Africa, and building tools for the delivery of precision medicine by leveraging on technology, AI and machine learning (ML).

TDC: What are your career goals?

Dr. Jamuar: As a physician scientist, my goal is to contribute to building a healthcare ecosystem using the best of technological advances. By combining genomics and AI/ML, we can enhance health such that people not only live a long life, but a long, good quality life. At the same time, my goal is to transform management of rare disorders from the current state of counseling and anticipatory guidance to finding a cure, through use of emerging therapies like genome editing and gene therapy.

TDC: Why did you choose genetics as your field of study?

Dr. Jamuar: I have always loved solving puzzles and being a clinical geneticist is just that. It allows me to be a doctor, manage patients, but at the same time look at the individual’s complex medical history and piece it all together. It is fascinating when one of the puzzles is solved, just as in our work on developmental split brain syndrome.

TDC: If you could pick three words that describe yourself, what would they be?

Dr. Jamuar: Optimist, Inquisitive, Futurist


Twitter: @ssjamuar, @GlobalGeneCorp, @harvardmed
LinkedIn: saumya@globalgenecorp.com

The Trainee Paper Spotlight is a quarterly feature highlighting outstanding papers written by trainee members of ASHG.

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