University of Miami Miller School of Medicine

IBD Genetics Research Center 

Jacob L. McCauley, PhD

Co-Principal Investigator

Professor of Human Genetics

Professor of Pathology

Director, Center for Genome Technology & Biorepository Facility at the John P. Hussman Institute for Human Genomics

Maria T. Abreu, MD

Co-Principal Investigator

Professor of Medicine

Professor of Microbiology and Immunology

Director, Crohn's & Colitis Center

Vice Chair of Research, Department of Medicine

Dr. McCauley is a genetic epidemiologist whose research focuses on the use of molecular techniques, bioinformatics, and statistical methods to identify genetic variation and to characterize its role in disease susceptibility and outcomes within a variety of human diseases. He has significant experience overseeing biological sample collection, tracking, quality control, genotyping, sequencing and analysis involved in large-scale human genetics projects. Dr. McCauley is a member of several multidisciplinary collaborations with colleagues both nationally and internationally. He has been involved in studying a variety of complex human diseases including autism, Alzheimer disease, stroke, amyotrophic lateral sclerosis (ALS), multiple sclerosis, and inflammatory bowel disease. Dr. McCauley has collaborated for over a decade with Dr. Abreu to help establish one of the largest clinically annotated biospecimen collections of Hispanic IBD patients in the US. This invaluable resource is at the foundation of many collaborative studies to better understand the molecular underpinnings of IBD.


Dr. Abreu is a gastroenterologist who specializes in inflammatory bowel disease (IBD). Dr. Abreu has more than 20 years of leadership experience in basic, translational and clinical research and mentoring. She was elected to the American Society for Clinical Investigation in 2010 and in 2018 to the Association of American Physicians (AAP). She was awarded the Sherman Prize for her research in IBD (https://shermanprize.org/prize-recipients/maria-t-abreu-md/). Dr. Abreu’s research laboratory has done pioneering work describing the role of innate immune signaling to drive colitis-associated cancer and some sporadic colon cancers. On the translational research side, she first described that Crohn’s disease patients with Nod2 mutations have stricturing disease. This observation is the basis of prognostic testing in Crohn's disease. Her laboratory routinely applies translational approaches using patient tissue and clinical metadata to interrogate disease response to therapeutic agents. At present, the “University of Miami IBD Center Clinical Phenotype Database and Tissue Repository” has clinically annotated biospecimens (DNA, RNA, and tissue) from over 3000 patients including one of the largest cohorts of Hispanic samples in the US. Her group has distinguished itself for focusing on the genetic and environmental factors that contribute to development of IBD in Hispanics. With the support of the NIDDK, they look forward to contributing even more to this important, understudied group of patients. Finally, her interest in the burgeoning IBD risk in Hispanic immigrants has led to diet intervention studies which use comprehensive, multi-omic approaches to study the microbiome and the effect of diet on disease state. We are excited to be part of the IBDGC family.

Lead Clinicians

    Oriana M. Damas, MD

    Amar R. Deshpande, MD

    David H. Kerman, MD

    Siobhan Proksell, MD

Clinical Coordinators

    Maria A. Quintero, MPH



Lab Team Members

    Patrice Whitehead (McCauley Lab)

    Anna Konidari (McCauley Lab)

    Irina Fernandez (Abreu Lab)

    Santander Maribel (Abreu Lab)

    Nivis Brito (Abreu Lab)

Analysts

    Ashley Beecham, PhD

    Lissette Gomez, MS

    Rose Killian, MPH


NIDDK IBDGC-related goals

Specific Aims

Aim 1: Characterize the genetic structure of Hispanic patients with IBD and the role of ancestry in genetic risk.

Aim 2: Determine the effect of environmental exposures on modifying IBD phenotypic expression in Hispanic patients and the impact of ancestry.

Aim 3: Examine differences between foreign-born and US-born CD Hispanics in innate immune cell gene expression from ileum and colon using multi-omic approaches.

Additional resources at University of Miami

Major interests

Dr. McCauley’s primary interest is to improve the understanding of human disease through disease gene discovery, genomics, and in-depth examination of environmental factors that influence disease outcomes. He has worked on understanding the genetic factors involved in numerous complex genetic diseases and within the last decade has focused efforts on understanding the genetic factors affecting diseases within historically underrepresented populations in research. The generalization of current genetic research findings to individuals of different genetic backgrounds is a significant and unanswered question in research, especially in light of reported differences in prevalence, clinical course, and progression of different diseases across populations. Understanding the biology behind these differences can help us to better understand IBD and other related diseases.

Co-Investigators

Ashley H. Beecham, MS, PhD

Post Doctoral Associate