Esteban G. Burchard, MD, MPH

Professor
Department of Bioengineering and Therapeutic Sciences
+1 415 514-9677
Research Description: 

Asthma is the most common chronic disease among children. In the U.S., childhood asthma prevalence is highest among Puerto Ricans (18.4%), followed by Blacks (14.6%), Whites (8.2%) and Mexicans (4.8%). These disparities extend to asthma mortality, which is four-fold higher in Puerto Ricans and African Americans compared to Mexican Americans. There are marked differences in drug response to asthma therapies between racial and ethnic groups, which contribute to health disparities in asthma morbidity and mortality. Albuterol, a short-acting ß2-agonist, is the most commonly prescribed asthma medication in the world. We and others have demonstrated that Puerto Rican and African American children with asthma were significantly less responsive to albuterol than European American children. In addition, long-acting ß2-agonist (LABA) usage has been associated with increased mortality among African American subjects. These findings suggest that poor response to asthma therapies contributes to health disparities in asthma morbidity and mortality. Racial/ethnic differences in drug response are partially explained by genetic differences. We study the interplay between genes and the environment to determine the root causes of asthma health disparities in children and adolescents to identify and develop targeted interventions to improve asthma outcomes.

I work in collaboration with a multi-disciplinary team of investigators from several Universities, which includes scientists with expertise in epidemiology, biostatistics, medicine, molecular and cell biology and genomics. Using tools from these disciplines, we perform comprehensive research (genetic, social and environmental) designed to untangle why populations differ in health and disease. We have leveraged the rich ancestry of racially mixed (admixed) populations to untangle complex gene-environment interactions for health and disease. We have developed specific expertise in population-based genetic studies in admixed populations. Most importantly, we are working to ensure that modern advances in research will benefit all populations.

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
None
Research Summary: 
Pharmacogenomics and Genetic Epidemiology of Pulmonary Diseases

Websites

Publications: 

Sequencing and imputation in GWAS: Cost-effective strategies to increase power and genomic coverage across diverse populations.

Genetic epidemiology

Quick C, Anugu P, Musani S, Weiss ST, Burchard EG, White MJ, Keys KL, Cucca F, Sidore C, Boehnke M, Fuchsberger C

Whole Genome Sequencing Identifies Novel Functional Loci Associated with Lung Function in Puerto Rican Youth.

American journal of respiratory and critical care medicine

Lee EY, Mak AC, Hu D, Sajuthi S, White MJ, Keys KL, Eckalbar W, Bonser L, Huntsman S, Urbanek C, Eng C, Jain D, Abecasis G, Kang HM, Germer S, Zody MC, Nickerson DA, Erle D, Ziv E, Rodriguez-Santana J, Seibold MA, Burchard EG

Differential asthma odds following respiratory infection in children from three minority populations.

PloS one

Wohlford EM, Borrell LN, Elhawary JR, Plotkin B, Oh SS, Nuckton TJ, Eng C, Salazar S, LeNoir MA, Meade K, Farber HJ, Serebrisky D, Brigino-Buenaventura E, Rodriguez-Cintron W, Kumar R, Thyne S, Seibold MA, Rodríguez-Santana JR, Burchard EG

Novel KITLG/SCF Regulatory Variants Are Associated with Lung Function in African American Children with Asthma.

Genetics

Mak ACY, Sajuthi S, Joo J, Xiao S, Sleiman PM, White MJ, Lee EY, Saef B, Hu D, Gui H, Keys KL, Lurmann F, Jain D, Abecasis G, Kang HM, Nickerson DA, Germer S, Zody MC, Winterkorn L, Reeves C, Huntsman S, Eng C, Salazar S, Oh SS, Gilliland FD, Chen Z, Kumar R, Martínez FD, Wu AC, Ziv E, Hakonarson H, Himes BE, Williams LK, Seibold MA, Burchard EG

Development of a small panel of SNPs to infer ancestry in Chileans that distinguishes Aymara and Mapuche components.

Biological research

Verdugo RA, Di Genova A, Herrera L, Moraga M, Acuña M, Berríos S, Llop E, Valenzuela CY, Bustamante ML, Digman D, Symon A, Asenjo S, López P, Blanco A, Suazo J, Barozet E, Caba F, Villalón M, Alvarado S, Cáceres D, Salgado K, Portales P, Moreno-Estrada A, Gignoux CR, Sandoval K, Bustamante CD, Eng C, Huntsman S, Burchard EG, Loira N, Maass A, Cifuentes L