Genomics and Precision Health Section
Established in 2024
Rasika Mathias, Sc.D.
Senior Investigator
Chief, Genomics and Precision Health Section
Contact: For contact information, search the NIH Enterprise Directory.
Major Areas of Research
- Genetics across the allergic diathesis including atopic dermatitis, asthma, and food allergy.
- Multi-omics integrative approaches to understanding the molecular underpinnings of allergy in a systems biology framework, with the ultimate translation of genetics into clinical practice for allergy.
- Includes studies on all groups that bear a burden from asthma.
Program Description
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 on how it can lead to cumulative risk across phenotypes of the atopic march. However, there is promising evidence that there may be greater accuracy to predict 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, one that integrates seamlessly with additional omics, and one that 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 (i) genetics across the atopic march; (ii) integrative-omics and systems biology across the atopic march; (iii) examining genetics beyond germline variation considering the importance of the dynamic genome; and (iv) dissemination of data and resources to the scientific community.
To facilitate clinical translation of findings in Precision Health, GPHS will continue its extensive internal and consortium-level efforts to address omics signatures for the allergic diatheses in all populations that bear disease burden for allergic disease.
Biography
Education
Sc.D., Genetic Epidemiology, 2003, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD
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 for all patients 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.
Selected Publications
Szczesny B, Boorgula MP, Chavan S, Campbell M, Johnson RK, Kammers K, Thompson EE, Cox MS, Shankar G, Cox C, Morin A, Lorizio W, Daya M, Kelada SNP, Beaty TH, Doumatey AP, Cruz AA, Watson H, Naureckas ET, Giles BL, Arinola GA, Sogaolu O, Falade AG, Hansel NN, Yang IV, Olopade CO, Rotimi CN, Landis RC, Figueiredo CA, Altman MC, Kenny E, Ruczinski I, Liu AH, Ober C, Taub MA, Barnes KC, Mathias RA. Multi-omics in nasal epithelium reveals three axes of dysregulation for asthma risk in the African Diaspora populations. Nat Commun. 2024 May 28;15(1):4546.
Keener R, Chhetri SB, Connelly CJ, Taub MA, Conomos MP, Weinstock J, Ni B, Strober B, xAslibekyan S, Auer PL, Barwick L, Becker LC, Blangero J, Bleecker ER, Brody JA, Cade BE, Celedon JC, Chang YC, Cupples LA, Custer B, Freedman BI, Gladwin MT, Heckbert SR, Hou L, Irvin MR, Isasi CR, Johnsen JM, Kenny EE, Kooperberg C, Minster RL, Naseri T, Viali S, Nekhai S, Pankratz N, Peyser PA, Taylor KD, Telen MJ, Wu B, Yanek LR, Yang IV, Albert C, Arnett DK, Ashley-Koch AE, Barnes KC, Bis JC, Blackwell TW, Boerwinkle E, Burchard EG, Carson AP, Chen Z, Chen YI, Darbar D, de Andrade M, Ellinor PT, Fornage M, Gelb BD, Gilliland FD, He J, Islam T, Kaab S, Kardia SLR, Kelly S, Konkle BA, Kumar R, Loos RJF, Martinez FD, McGarvey ST, Meyers DA, Mitchell BD, Montgomery CG, North KE, Palmer ND, Peralta JM, Raby BA, Redline S, Rich SS, Roden D, Rotter JI, Ruczinski I, Schwartz D, Sciurba F, Shoemaker MB, Silverman EK, Sinner MF, Smith NL, Smith AV, Tiwari HK, Vasan RS, Weiss ST, Williams LK, Zhang Y, Ziv E, Raffield LM, Reiner AP; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Hematology and Hemostasis Working Group; TOPMed Structural Variation Working Group; Arvanitis M, Greider CW, Mathias RA, Battle A. Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes. Nat Commun. 2024 May 24;15(1):4417.
Baloh CH, Kanchan K, Shankar G, Nepom GT, Mathias RA, Perry JA. Omics-oriented research illustrated with the LEAP study and the OASIS bioinformatics tool. J Allergy Clin Immunol. 2023 Feb;151(2):416-419.
Kanchan K, Shankar G, Huffaker MF, Bahnson HT, Chinthrajah RS, Sanda S, Manohar M, Ling H, Paschall JE, Toit GD, Ruczinski I, Togias A, Lack G, Nadeau KC, Jones SM, Nepom GT, Mathias RA. HLA-associated outcomes in peanut oral immunotherapy trials identify mechanistic and clinical determinants of therapeutic success. Front Immunol. 2022 Nov 18;13:941839.
Taub MA, Conomos MP, Keener R, Iyer KR, Weinstock JS, Yanek LR, Lane J, Miller-Fleming TW, Brody JA, Raffield LM, McHugh CP, Jain D, Gogarten SM, Laurie CA, Keramati A, Arvanitis M, Smith AV, Heavner B, Barwick L, Becker LC, Bis JC, Blangero J, Bleecker ER, Burchard EG, Celedón JC, Chang YPC, Custer B, Darbar D, de Las Fuentes L, DeMeo DL, Freedman BI, Garrett ME, Gladwin MT, Heckbert SR, Hidalgo BA, Irvin MR, Islam T, Johnson WC, Kaab S, Launer L, Lee J, Liu S, Moscati A, North KE, Peyser PA, Rafaels N, Seidman C, Weeks DE, Wen F, Wheeler MM, Williams LK, Yang IV, Zhao W, Aslibekyan S, Auer PL, Bowden DW, Cade BE, Chen Z, Cho MH, Cupples LA, Curran JE, Daya M, Deka R, Eng C, Fingerlin TE, Guo X, Hou L, Hwang SJ, Johnsen JM, Kenny EE, Levin AM, Liu C, Minster RL, Naseri T, Nouraie M, Reupena MS, Sabino EC, Smith JA, Smith NL, Su JL, Taylor JG, Telen MJ, Tiwari HK, Tracy RP, White MJ, Zhang Y, Wiggins KL, Weiss ST, Vasan RS, Taylor KD, Sinner MF, Silverman EK, Shoemaker MB, Sheu WH, Sciurba F, Schwartz DA, Rotter JI, Roden D, Redline S, Raby BA, Psaty BM, Peralta JM, Palmer ND, Nekhai S, Montgomery CG, Mitchell BD, Meyers DA, McGarvey ST; NHLBI CARE Network; Mak AC, Loos RJ, Kumar R, Kooperberg C, Konkle BA, Kelly S, Kardia SL, Kaplan R, He J, Gui H, Gilliland FD, Gelb BD, Fornage M, Ellinor PT, de Andrade M, Correa A, Chen YI, Boerwinkle E, Barnes KC, Ashley-Koch AE, Arnett DK; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Hematology and Hemostasis Working Group; TOPMed Structural Variation Working Group; Laurie CC, Abecasis G, Nickerson DA, Wilson JG, Rich SS, Levy D, Ruczinski I, Aviv A, Blackwell TW, Thornton T, O'Connell J, Cox NJ, Perry JA, Armanios M, Battle A, Pankratz N, Reiner AP, Mathias RA. Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed. Cell Genom. 2022 Jan 12;2(1):100084.
Arehart CH, Daya M, Campbell M, Boorgula MP, Rafaels N, Chavan S, David G, Hanifin J, Slifka MK, Gallo RL, Hata T, Schneider LC, Paller AS, Ong PY, Spergel JM, Guttman-Yassky E, Leung DYM, Beck LA, Gignoux CR, Mathias RA, Barnes KC. Polygenic prediction of atopic dermatitis improves with atopic training and filaggrin factors. J Allergy Clin Immunol. 2022 Jan;149(1):145-155.
Research Group
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…
