This page is dedicated to the Intestinal Malrotation and Volvulus 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 Intestinal Malrotation and Volvulus research study, established at Boston Children’s in 2023 and led by Drs. Christopher Duggan, Wen-Hann Tan, Tom Jaksic, and Jonathan Salazar, has already enrolled 20 patients and their families. The study aims to identify genetic causes of intestinal malrotation and provide personalized medicine.

Disease information

Intestinal malrotation is a condition present from birth where the intestines are not in the right place inside the belly. This can lead to serious problems, like mid-gut volvulus, where the intestines twist and cut off their own blood supply. This can damage the intestines. Children with this condition often need surgery to remove the damaged parts, which can sometimes lead to short bowel syndrome.

Currently, there are no known genetic causes for this condition. In their interviews on YouTube, Drs. Duggan and Jaksic describe how rewarding it is to care for children in the Center for Advanced Intestinal Rehabilitation (CAIR). Learn more about intestinal malrotation and volvulus at Boston Children’s.

Participate in research

Physicians may refer their patients with intestinal malrotation to Drs. Duggan and Jaksic. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about their research on Dr. Duggan's researcher profile and Dr. Jaksic's publications.

Patient care

Patients and their families with intestinal malrotation can be seen by an expert multidisciplinary team at the Center for Advanced Intestinal Rehabilitation (CAIR) at Boston Children’s.

Investigators

Divisions

Disease support organizations

Intestinal Malrotation Foundation

Intestinal Malrotation Foundation provides community, awareness, advocacy and education for Intestinal Malrotation and its complications.

Trusted sites

NORD Report