Rasika Mathias, Sc.D.

Precision Health aims to integrate an individual’s genetic code into their health care. Such integration can help to 1) identify those at risk, promoting disease prevention strategies; 2) diagnose disease at earlier stages, providing opportunity for better control or even mitigation of disease; 3) predict disease severity, allowing for early intervention and optimal, effective management; and 4) select the most efficacious treatment.

To date, much remains unknown about how genetic risk leads to the development of each allergic phenotype, and even less is known about how it can lead to cumulative risk across phenotypes of the atopic march. However, there is promising evidence that there may be greater accuracy in predicting risk and severity for a single allergic outcome (e.g., atopic dermatitis (AD)) when genetic risk prediction is built, including evidence from multiple atopic march outcomes (i.e., AD combined with asthma and allergic rhinitis).

There is also evidence that multi-omics approaches combining genomics, transcriptomics, and epigenetics can reveal context-specific (e.g., rhinovirus) genetic mechanisms for disease onset (i.e., asthma) and help identify disease endotypes and severity trajectories. As stated in the 2019 report from the NIAID workshop on AD and the atopic march, “Because not all patients with early-onset AD will progress through the atopic march, the challenges are to identify those at greatest risk of progression and to develop targeted interventional therapies.” Only a multi-omics approach across phenotypes of the atopic march will truly deliver on the promise of clinical utility and actionability of genetics for allergy.

The Genomics and Precision Health Section (GPHS) within the Laboratory of Allergic Diseases is a program that brings together atopic dermatitis, asthma, and food allergy genomics. It integrates seamlessly with additional omics and leverages expansive pre-existing resources in conjunction with new initiatives to deliver on the promise of genetic risk prediction and the ultimate translation of genetics into clinical practice for allergy.

GPHS will accomplish this by working on 1) genetics across the atopic march, 2) integrative omics and systems biology across the atopic march, 3) examining genetics beyond germline variation considering the importance of the dynamic genome, and 4) dissemination of data and resources to the scientific community.

There are well-appreciated yet poorly understood disparities in allergic phenotypes, and we cannot underscore enough the importance of including under-represented minority (URM) groups in genomic studies of allergy to better understand underlying pathology, better understand the genomic contribution to risk and severity of disease and facilitate equitable clinical translation of findings in precision health. This gross under-representation limits not only the validity and generalizability of the genomics findings but also seriously hampers the ability to translate the research into clinical practice in an equitable manner. GPHS will work on bridging such gaps by leveraging existing studies that are devoted to URM groups, continuing to engage with collaborators working to address health disparities across NIH Institutes and Centers and beyond allergy, and leveraging larger public resources that are going to be invaluable in expanding representation in genomics research.

Dr. Mathias received an Sc.D. in 2003 from the Johns Hopkins Bloomberg School of Public Health and trained at the National Human Genome Research Institute (NHGRI), NIH, as a postdoctoral fellow. Following a staff scientist role at NHGRI, Dr. Mathias returned to Johns Hopkins University in 2009, where she established a research program interrogating big data to expand our knowledge in the biological and ultimately clinical basis of complex diseases based on the interpretation of molecular intricacy and multi-omics variation. She is particularly interested in translating insights at the molecular level to clinical practice in an equitable manner for all groups across diverse health systems.

Dr. Mathias was a professor in the Department of Medicine and Department of Epidemiology at Johns Hopkins University. She is a global leader with international recognition for her work in the field of genetic epidemiology and complex disease. In March 2024, Dr. Mathias joined NIAID as a senior investigator to lead a new Genomics and Precision Health Section in the Laboratory of Allergic Diseases.