Female Scientists Pushing Precision Medicine Forward

The women pushing frontiers in precision medicine: (left to right) top row: Claire Bellis, Foo Jia Nee, Li Jingmei; second row: Marie Loh, Neerja Karnani, Sonia Davila, Yasmin Bylstra.

Across social, economic and political spheres, diversity and inclusion has led to a flourishing of valuable ideas and even increased revenue. The benefits of diversity are particularly relevant when it comes to healthcare: the perspectives and experiences of women are vital to develop medical advancements that are effective for all people. However, while women make up almost 70 per cent of the global healthcare workforce, they have been historically underrepresented in medical research. Until 1993, women were actively excluded from clinical trials in the United States if they were under 40 years old and considered of childbearing potential. A 2020 study from the University of Chicago found that women tend to be overmedicated and experience excess side effects from medication because clinical drug trials are predominantly carried out on male bodies.

Such research gaps can lead to inefficiencies when treating and diagnosing female patients. Fortunately, precision medicine aims to address these gaps by considering the vast genetic differences between diverse populations for more representative and accurate treatment. In Singapore, several women have been contributing to the precision medicine landscape. In celebration of International Women’s Day, we take a look at seven of them and the impact of their work.

Yasmin Bylstra

For over two decades, genetic counsellor Yasmin Bylstra has been interpreting and explaining genetic results to individuals and their families who are at risk of genetic diseases. As the Principal Genetic Counsellor at the SingHealth Duke-NUS Institute of Precision Medicine (PRISM), she develops and streamlines precision medicine protocols for critical processes like informed consent, return of results and findings management. Recently, her work involves the collection and application of data for identifying patients at risk of genetic diseases. Working closely with patients and managing genome sequencing results, Yasmin brings precision medicine approaches to the clinic as a patient-focused healthcare solution rather than a solely academic pursuit.

Li Jingmei

Dr Li Jingmei is currently the Group Leader at A*STAR’s Genome Institute of Singapore’s (GIS) Women’s Health and Genetics laboratory. At GIS, Li and her team are committed to driving Singapore’s women’s health research through a variety of efforts—from genetic sequencing to assessing the general public’s attitudes toward breast cancer screening.  In particular, Li’s work focuses on the prevention and early detection of breast cancer. Typically, family history remains the primary measurement for breast cancer risk, but Li and her team have noticed that such information is becoming more difficult to obtain. Through her research, she hopes to identify genetic differences that can be found in a person’s genome—pointing to a more accurate indication of risk. Over the course of her career, Li has been awarded the 2017 Singapore Young Scientist Award as well as a 2014 L’Oréal-UNESCO For Women in Science International Fellowship.

Claire Bellis

As the Senior Programme Manager for the National Precision Medicine (NPM) Programme, Dr Claire Bellis plays a key role in driving Singapore’s major precision medicine efforts. Through the programme, Bellis and her team intend to transform medical treatments from a one-size-fits-all approach to highly-effective tailored therapies and diagnoses. To that end, the team is currently working on sequencing the genomes of 100,000 Singaporeans to gain a better understanding of the intersection between Asian health and genomics. In fact, a recent 2019 paper by Bellis and her collaborators garnered global attention for being the world’s largest whole genome sequencing analysis of multi-ethnic Asian populations. The study sequenced the genomes of almost 5,000 Singaporeans—providing significant insights into the genetic diversity of Asian populations and validating the programme’s proof-of-concept while demonstrating the capabilities of A*STAR’s GIS and wider NPM ecosystem.

Sonia Davila

Professor Sonia Davila, Deputy Director of the SingHealth Duke-NUS Institute of Precision Medicine (PRISM) and Director of Research at the SingHealth Duke-NUS Genomic Medicine Centre, has identified genetic mutations involved in immune-related diseases, infectious and autoimmune disorders, rare diseases like Kawasaki disease and polycystic liver disease among others. Most recently, Davila was part of a team that conducted a large-scale study on steroid-resistant nephrotic syndrome—a rare kidney disorder that can progress to end-stage kidney disease. Their study, Deciphering Diversities: Renal Asian Genetics Network (DRAGoN), focused specifically on identifying disease risk in Asian patients. Davila hopes to advance genomic medicine and precision medicine as a practical clinical tool capable of benefitting patients across the globe—no matter how rare their disease.

Foo Jia Nee

Professor Foo Jia Nee is the Nanyang Assistant Professor at the Lee Kong Chian School of Medicine at Nanyang Technological University. Foo is also a Senior Research Scientist at A*STAR’s GIS where her team looks at genetic changes that influence the risk of neurodegenerative diseases, childhood neurological diseases, mental health and neurocognitive issues as well as other genetic conditions. In line with Singapore’s goal of championing precision medicine in Asia, one of Foo’s most significant studies[1] was the first and largest Han Chinese Genome-wide association study on Parkinson’s disease, done in collaboration with the National Neuroscience Institute and a consortium of researchers across East Asia. The people of Han Chinese ethnicity make up almost a fifth of the world’s population, thus a better understanding of how genomic differences affect their risk of Parkinson’s disease can greatly advance precise therapies and diagnosis in East Asia.

Neerja Karnani

Neerja Karnani is a Senior Principal Investigator and the Head of Clinical Data Engagement at A*STAR’s Bioinformatics Institute. She and her team use integrated omics approaches and clinical data science to improve diagnostics and develop interventions for chronic diseases. Simultaneously, she is the Systems Biology Lead at Singapore Institute for Clinical Sciences, A*STAR. There, Karnani developed a multi-omics roadmap to identify the molecular phenotypes of metabolic and mental health adversities in expecting mothers and their babies. Karnani is also Adjunct Associate Professor at the National University of Singapore’s Yong Loo Lin School of Medicine where she studies the developmental and intergenerational lipid signatures of obesity. This year, Karnani aims to create customized health apps powered by next generation diagnostic tests that combine precision medicine research and electronic health records with real-world data from the public health sector.

Marie Loh

Assistant Professor Marie Loh from the Lee Kong Chian School of Medicine at Nanyang Technological University, Singapore is an award-winning molecular epidemiologist. As part of the Population and Global Health research programme, she investigates the role of genetics and epigenetics underlying ethnic differences in the risk and outcomes of complex diseases. By combining population health with molecular phenotyping and laboratory-based approaches, her group aims to understand the susceptibility to cardiometabolic and skin diseases, with a specific focus in how these diseases present in Asian populations.

Loh is currently working on understanding the genetic underpinnings of obesity, type 2 diabetes and dilated cardiomyopathy, as well as the interaction between the skin microbiome and epigenome in atopic dermatitis. At the same time, she is also a Senior Research Scientist at the National Skin Centre and an Honorary Senior Lecturer at Imperial College London.

References:

Largest genetic study on Parkinson’s disease in Asians reveals two genetic risk factors [Online]. https://www.sgh.com.sg/news/tomorrows-medicine/largest-genetic-study-on-parkinsons-disease-in-asians-reveals-two-genetic-risk-factors