This page is dedicated to the Congenital Diarrheas and Enteropathies 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 Congenital Diarrheas and Enteropathies research study, established at Boston Children’s in 2019 and led by Dr. Jay Thiagarajah, has already enrolled 69 patients and their families. The study aims to identify genetic causes of cerebral palsy and provide personalized medicine.
Co-Director Congenital Enteropathy Program; Attending Physician, Division of Gastroenterology, Hepatology and Nutrition
Assistant Professor of Pediatrics, Harvard Medical School
Disease information
Congenital diarrheas and enteropathies are disorders that affect the intestine, cause severe diarrhea, and alter the ability to absorb nutrients.
It is estimated that 60-70% of individuals with congenital diarrhea and enteropathies have an underlying genetic cause. Learn more about congenital diarrheas and enteropathies at Boston Children’s.
Key outcomes
Some key outcomes include 37 percent of patients with diagnostic results, 14 percent of which led to changes in treatment plans, and an additional 30 percent of patients with candidate findings that are being further researched, including multiple novel, possibly disease-causing genes. Translational research leveraging the genetic findings from the cohort to investigate therapies for these disorders is underway using patient-derived cells.
Genes of interest
LNX1 C4A SLC9A3 ERBB4 GALNT8 DGAT1 IL7R SPINT2 EPCAM EPS8L2 MIB2 DMD TRPM6 ACTG2 STX3 SLC5A1 NEUROG3 DGAT1 RIPK1 TTC7A WNT2B MYO5B ICOS SLC10A2 TTC37
Participate in research
Physicians may refer their patients with diagnoses of congenital diarrheas and enteropathies to Dr. Thiagarajah. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Thiagarajah’s studies, including the Congenital Diarrheas and Enteropathies study, on the Thiagarajah Lab webpage.
Patient care
Patients and their families with congenital diarrheas and enteropathies can be seen by an expert multidisciplinary team in the Congenital Enteropathy Program at Boston Children’s. Learn more about congenital diarrheas and enteropathies.
Patient stories
In 2024 Dr. Thiagarajah and the Congenital Enteropathy Program evaluated a 9-year-old patient who had experienced persistent diarrhea, malabsorption, and poor growth since infancy. He had been seen at multiple hospitals over the years without a diagnosis that could explain all of his symptoms. He was subsequently enrolled in the cohort for genome sequencing, revealing a very rare mutation in the SLC10A2 gene, a bile-acid transporter in the intestine. Loss of function of the protein encoded by this gene leads to excessive bile acids in the intestine as well as secondarily, an overproduction of bile acids by the liver, potentially explaining many of his symptoms. This discovery led to additional testing to confirm the diagnosis of a disease called primary bile acid malabsorption. Fortunately, there are medications for removing excessive bile acids in the intestine and he was able to start treatment immediately. Since beginning the treatment, the patient’s quality of life has completely transformed. He no longer feels sick all the time, can eat anything he wants, no longer experiences diarrhea, and has started to gain weight and grow taller. This patient represents only the sixth case ever reported to have this specific genetic mutation.
14-month-old Laila had been misdiagnosed nine times and received ineffective treatments that worsened her condition before she was evaluated by the team specializing in rare and complex conditions at Boston Children’s Hospital. A full assessment suspected a very rare condition called trichohepatoenteric syndrome. Genomic testing revealed a mutation in TTC37 which confirmed the diagnosis. Although there is no treatment for trichohepatoenteric syndrome, the family now has answers to Laila’s symptoms, and the diagnosis is helping researchers learn more about the disease, which is so rare that there is not much known about it. Since the diagnosis, Layla has been thriving with proper management of her symptoms under the care of a team of specialists. Read Laila’s full story here.
Investigator
Divisions
Notable publications by investigator
The genetics of monogenic intestinal epithelial disorders.
Disease support organizations
TKO Strong Foundation
TKO Strong Foundation is a nonprofit organization whose goal is to bridge the gap between patients, researchers, and physicians to find safe and effective treatment options and, ultimately, a cure for Microvillus Inclusion Disease.
PediCODE
The Pediatric Congenital Diarrhea and Enteropathies Consortium (PediCODE) is an integrated group of academic medical centers in North America dedicated to research in rare genetic causes of early onset diarrheal disease and intestinal failure.