Our overarching goals are to identify the monogenetic causes of children with congenital diarrhea, characterize their clinical features and elucidate the molecular and cell biology of the genes involved.

We aim to analyze cohorts of children with defined disease so as to optimize early diagnosis and clinical management, and discover new therapies. 

Publications

What We’re Doing

Pediatric COngenital Diarrhea and Enteropathy

(PediCODE) Consortium

Study Contacts

Lead Sites

• Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by
  Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia
  
• Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea
  
• Mutations in Tetratricopeptide Repeat Domain 7A Result in a Severe Form of VEOIBD
  
• Secretory diarrhoea: mechanisms and emerging therapies

Hospital for Sick Children
Aleixo Muise – aleixo.muise@sickkids.ca
Yaron Avitzur - Yaron.Avitzur@sickkids.ca

Mattel Children’s Hospital
Martin Martin - MMartin@mednet.ucla.edu

Vanderbilt University
Jim Goldenring - jim.goldenring@vanderbilt.edu
Sari Acra - sari.acra@Vanderbilt.Edu

Boston Children’s Hospital

Wayne Lencer - wayne.lencer@childrens.harvard.edu 

Jay Thiagarajah - jay.thiagarajah@childrens.harvard.edu

Daniel Kamin - daniel.kamin@childrens.harvard.edu