University of Miami Miller School of Medicine

IBD Genetics Research Center

Jacob L. McCauley, PhD

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

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.

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

UM IBD Clinical Phenotype Database and Tissue Repository: Overseen by Drs. Abreu and McCauley, this resource contains >3,000 enrolled IBD patients with deep phenotyping and a wealth of stored biospecimens including endoscopic biopsies, DNA, serum, plasma, PBMCs, feces/colon washes, and Paxgene RNA.
John P. Hussman Institute for Human Genomics: Dr. McCauley directs multiple core laboratories for biobanking, sequencing, and genotyping within the Institute.

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.