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: 

IL1RL1 gene variations are associated with asthma exacerbations in children and adolescents using inhaled corticosteroids.

Allergy

Dijk FN, Vijverberg SJ, Hernandez-Pacheco N, Repnik K, Karimi L, Mitratza M, Farzan N, Nawijn MC, Burchard EG, Engelkes M, Verhamme KM, Potocnik U, Pino-Yanes M, Postma DS, Maitland-van der Zee A, Koppelman GH

Atopic Dermatitis, Race and Genetics.

The Journal of allergy and clinical immunology

Kumar R, Seibold MA, Burchard EG

Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico.

Pediatric pulmonology

Zeiger AM, McGarry ME, Mak ACY, Medina V, Salazar S, Eng C, Liu AK, Oh SS, Nuckton TJ, Jain D, Blackwell TW, Kang HM, Abecasis G, Oñate LC, Seibold MA, Burchard EG, Rodriguez-Santana J

Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children with asthma.

Chest

Kachroo P, Hecker J, Chawes B, Ahluwalia TS, Cho M, Qiao D, Kelly RS, Chu SH, Virkud YV, Huang M, Barnes KC, Burchard EG, Eng C, Hu D, Celedón JC, Daya M, Levin AM, Gui H, Williams LK, Forno E, Mak ACY, Avila L, Soto-Quiros M, Cloutier MM, Acosta-Pérez E, Canino G, Bønnelykke K, Bisgaard H, Raby BA, Lange C, Weiss ST, Lasky-Su J

Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity.

American journal of human genetics

Szpiech ZA, Mak ACY, White MJ, Hu D, Eng C, Burchard EG, Hernandez RD