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.
The founding centers of the consortium are:
The goals of this consortium, since its inception, are to identify novel monogenetic causes of the congenital diarrheas, to elucidate their cellular and tissue level functions, to establish an accessible clinical and biologic resource to facilitate research in this field, and to standardize and expedite the genetic diagnosis (and treatment) of the congenital diarrheas. We also plan to elucidate the genetic and molecular basis of several novel CODE disorders, and to perform selective low and medium throughput assays to screen FDA approved drugs that attenuate the epithelial phenotype of specific genes associated with CODE. Therefore, the PediCODE Consortium seeks to identify better approaches to rapidly and accurately identify patients with CODE and eventually to develop targeted therapeutic approaches for these patients.
The consortium brings together complementary expertise in pediatric gastroenterology, genetics, pathology, bioinformatics, epithelial biology and stem cell biology. All of the four centers have established track records of successful research in the field. For example, consortium members have made major contributions to the identification and evaluation of selective glucose malabsorption (GGM-SLC5A1), gut endocrinopathies (NEUROG3/PCSK1), microvillus inclusion disease (MVID-MYO5B), Congenital Sodium Diarrhea (NHE3), and TTC7A mutations among many others. Members of our group were the first to identify the basis of ten novel causes of intestinal disease, including CODEs (SLC5A1, NEUROG3, PCSK1, TTC7A, NHE3, PLVAP, TRIM22, ALKI, WNT2B and ARPC1B).
Specific Goals of PediCODE consortium:
Enroll patients with CODE disorders into an observational cohort study (where subjects are followed over time and clinical, pathology, laboratory and radiological data as well as blood samples specifically for research are collected at regular intervals).
Establish a comprehensive Biorepository of specimens to facilitate research in CODE disorders.
Discover new CODE disorders by genetic sequencing of patients.
Discover new laboratory markers of disease that will lead to better treatment and deeper scientific understanding of the causes of these diseases.
Develop improved methods and assays for studying CODEs.
Work with CODE patient support groups to help those patients who wish to be involved in research connect with those doctors conducting the research.
Help other scientists do more research on CODEs by providing specimens and clinical data from the PediCODE biorepository for analysis.
Train new young investigators in the field of genetic gastrointestinal disorders.
Maintain an electronic website resource with significant information for clinicians, researchers, and patients.
The PediCODE consortium was formed in December of 2015 at a 2-day face-to-face meeting in Boston to provide a collaborative network to address the complex problems of diagnosis and treatment of monogenic causes of COngenital Diarrhea and Enteropathies (CODEs). Because these disorders are relatively rare, a collaborative group is essential to coordinate the analysis and better treat these patients. The PediCODE Consortium brings together experts from four institutions with a long history of clinical and research interest in congenital diarrheal disease at UCLA, Harvard/Boston Children’s, The Hospital for Sick Children (SickKids) Toronto and Vanderbilt University medical centers.
Since 2015 the consortium has collaborated on a number of studies and continued to develop the infrastructure for the consortium. In 2019, the National Institute of Diabetes and Digestive and Kidney Disease (NIDDK) awarded a collaborative High Impact, Interdisciplinary Science RC2 grant to the PediCODE consortium to accelerate research in CODE disorders.
The Consortium continues to meet monthly via video conference and at our annual meeting, most recently held in Boston in 2019.