Inflammatory bowel disease biobank research update

June 12, 2018

Established in 2013, Mayo Clinic's inflammatory bowel disease (IBD) biobank involves researchers and resources at Mayo campuses in Arizona, Florida and Minnesota. The goal of the biobank is to collect biospecimens (serum, tissue, stool and urine) from patients diagnosed with ulcerative colitis (UC) or Crohn's disease (CD) to advance biomarker research that might one day improve diagnosis, prognosis and treatment of IBD.

Biomarkers have garnered a great deal of attention because of their diagnostic and prognostic potential. Although the field is still young, serologic and genetic markers are expected to help researchers develop therapeutic approaches tailored to an individual's unique genetic or molecular profiles.

Process and collaborators

Biobank participant recruitment and sample collection is underway at Mayo Clinic campuses in Arizona, Florida and Minnesota. Potential patients are identified using a database search by appointment indication, recruited and enrolled after undergoing an informed consent process. Once biospecimen samples are obtained and analyzed, relevant data is recorded using a uniform data capture tool across all campuses. To date, the Mayo IBD biobank has collected samples from more than 2,000 Mayo Clinic patients, about 900 of which have been genotyped.

Current collaborations and biobank-related research projects

In 2016, Mayo's IBD investigators joined researchers at seven other IBD centers to form a consortium through the Crohn's and Colitis Foundation to develop the world's largest IBD data and biosample exchange. Laura E. Raffals, M.D., a Mayo Clinic gastroenterologist in Rochester, Minnesota, specializing in IBD, serves as the co-principal investigator of this national effort and is leading the team of Mayo researchers to collaboratively conduct research aimed toward discovering new IBD treatment targets and finding a cure for these diseases.

"We are pleased with the number and scope of projects currently underway and by the progress achieved to date by our researchers," says Dr. Raffals. "We are committed to increasing patient recruitment, pursuing additional collaborations with other organizations and encouraging development of additional translational research projects leading to meaningful advances in the treatment of inflammatory bowel disease."

Mayo researchers gave presentations highlighting discoveries stemming from work utilizing the Mayo Clinic IBD biobank at the 2017 Digestive Diseases Week (DDW) meeting. Led by Ming-Hsi Wang, M.D., Ph.D., a gastroenterologist and hepatologist at Mayo Clinic's campus in Florida, IBD researchers from Mayo Clinic's campuses in Florida, Minnesota and Arizona provided an analysis of the Mayo IBD biobank's available genotype data, crossing it with phenotype data to identify genetic variants that can predict which patients with inflammatory bowel disease are most likely to respond to TNF-antagonist therapies.

Mayo presenters at DDW also discussed their work describing the genetic risk burden affecting patients with IBD and perianal disease and the response to anti-tumor necrosis factor (TNF) therapy. They examined how a patient's genetic risk burden or profile affects the disease course and individual responses to biological therapy.

The list of projects that follows demonstrates the wide range of additional questions and hypotheses that Mayo's IBD biobank investigators are currently addressing.

Understanding and curing CD requires an epigenetic approach

Led by William A. Faubion, M.D., a gastroenterologist specializing in IBD at Mayo Clinic's Minnesota campus, this research team seeks to identify epigenetic DNA methylation patterns associated with recurrent CD. The project aims include building the methylome; conducting multidimensional analyses, including RNA sequencing and deep sequencing for IBD-associated variants; and conducting bioinformatic analyses.

Rare IBD phenotypes: Analysis of genetic, serologic and clinical factors

Led by Drs. Faubion and Raffals, this Mayo research team seeks to utilize the large clinical base of the Sinai-Helmsley Alliance for Research Excellence (SHARE) consortium in order to collect the largest cohorts of well-characterized "rare" IBD manifestations. The study's aims include testing for genetic, serologic and clinical associations in rare subtypes of IBD manifestations and developing models with clinical utility for predicting extraintestinal manifestations.

Identifying and validating antibody markers of diagnostic and prognostic significance in CD

This project involves researchers from Mayo Clinic's campuses in Arizona and Minnesota, working in collaboration with colleagues at Arizona State University. The project's goal is to use serologic biomarkers to predict disease severity and progression. Specific aims for this project include the identification and validation of antibody markers against human and microbial antigens that can be used for predicting CD severity and risk of disease progression.

Stool DNA for the surveillance of IBD-associated colonic dysplasia and cancer

This project, led by John B. Kisiel, M.D., at Mayo Clinic's Minnesota campus, seeks to improve patient outcomes and minimize the burden of invasive and expensive testing. Colonoscopy is currently the primary surveillance tool for colorectal cancer, a major cause of morbidity and mortality in patients with IBD.

Dr. Kisiel and his collaborators have shown that stool DNA testing is sensitive, specific and cost-effective in this application. They hope to bring this technology to patients with IBD in the near future.