This page is dedicated to the Inflammatory Bowel Disease research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.

The Inflammatory Bowel Disease research study, established at Boston Children’s in 2018 and led by Dr. Scott Snapper, has already enrolled more than 750 patients and their families. This work has been supported by the Very Early Onset Inflammatory Bowel Disease Consortium, which is co-led by Dr. Snapper. The study aims to identify genetic causes of inflammatory bowel disease and provide personalized medicine.

Disease information

Inflammatory bowel disease (IBD) is a group of disorders that affect the intestinal tract. While the causes of IBD are still being studied, genetic causes have been found to have an increasingly important role. Learn more about IBD at Boston Children’s (Crohn's disease, ulcerative colitis, indeterminate colitis, very early onset inflammatory bowel disease).

Key outcomes

Some key outcomes include 1% of patients with diagnostic findings returned and an additional 3% with findings that are being further researched, including novel candidate genes. Through these efforts we have identified novel genes that are associated with the development of very early onset inflammatory bowel disease, including most recently STXBP3 and IFNL.

Genes of interest

IFNL, STXBP3 

Participate in research

Physicians may refer their patients with IBD to Dr. Snapper. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Snapper’s studies, on the Snapper Lab webpage.

Patient care

Patients and their families with IBD can be seen by an expert multidisciplinary team in the Inflammatory Bowel Disease Center at Boston Children’s.

Patient stories

One patient evaluated in our cohort was a 5-year-old girl from Los Angeles who presented with severe intestinal inflammation that was resistant to all medication and required a colectomy. Through genetic evaluation, we identified that the patient had a mutation in ficolin 3 — a protein known to activate the complement system and regulate the handling of bacterial pathogens. We functionally demonstrated that this patient had defective ficolin 3. She is one of less than 10 patients in the world reported to have this mutation — and the only one with inflammatory bowel disease. The patient is doing well after her surgery, and the family has been so appreciative to have a molecular understanding of the cause of her disease.

Investigator

Scott Snapper, MD, PhD

Divisions

Notable publications by investigators

Clinical Phenotypes and Outcomes in Monogenic Versus Nonmonogenic Very Early Onset Inflammatory Bowel Disease

Disease support organizations

Crohn’s & Colitis Foundation

Crohn’s & Colitis Foundation is a nonprofit, volunteer-fueled organization dedicated to finding cures for Crohn's disease and ulcerative colitis, and improving the quality of life of children and adults affected by these diseases.

Crohn’s and Colitis Young Adults Network

The Crohn’s and Colitis Young Adults Network (CCYAN) is a community and fellowship program for young adults with Inflammatory Bowel Diseases around the world. The CCYAN is a program through Generation Patient that is led entirely by young adults with IBD.

Connecting to Cure Crohn’s and Colitis

Connecting to Cure Crohn’s and Colitis (CtoC) mission is to unite and support the Inflammatory Bowel Disease (IBD) Community, amplify awareness about the gravity of IBD, raise crucial funds, and foster meaningful connections among those affected by these chronic and incurable diseases.

International Foundation for Gastrointestinal Disorders (IFGD)

IFGD is a nonprofit organization that works with patients, families, physicians, nurses, practitioners, investigators, regulators, employers, and others to broaden understanding about GI disorders, support and encourage research, and improve digestive health in adults and children.

Pediatric IBD Foundation

Pediatric IBD Foundation is a nonprofit organization whose mission is to improve the lives of children with Crohn’s disease and ulcerative colitis through advocacy and education.

Trusted sites