Today's research, tomorrow's hope...

JAY THIAGARAJAH, MD, PHD

Co-Director of Congenital Enteropathy Program
​Instructor of Pediatrics, Harvard Medical School
Dr. Jay R. Thiagarajah has dedicated his career to understanding and treating gastrointestinal disease. After earning his Ph.D. at King’s College London, he completed postdoctoral research at the University of California, San Francisco, focusing on intestinal epithelial biology and pre-clinical drug development. He later trained as a physician, combining his scientific research with his passion for patient care.
His work has also taken him internationally, including research on anti-diarrheal treatments in Bangladesh and founding a nonprofit medical organization serving underserved communities in Nepal. He completed his pediatric training at Massachusetts General Hospital and his Gastroenterology fellowship at Boston Children’s Hospital.
Today, Dr. Thiagarajah is an Attending Physician in Gastroenterology, Hepatology and Nutrition at Boston Children’s Hospital and Co-Director of the Congenital Enteropathy and Diarrhea Program. His research focuses on the genetics and biology of congenital diarrheal disorders, including Microvillus Inclusion Disease (MVID), and the development of new approaches to understanding and treating these rare conditions.

Lissette jimenez, MD, mph

Co-Director of Congenital Enteropathy Program
​Instructor of Pediatrics, Harvard Medical School
Dr. Lissette Jimenez is a physician at Boston Children’s Hospital specializing in gastroenterology, hepatology and nutrition, with particular expertise in rare congenital intestinal disorders. Her clinical work includes the Congenital Enteropathy Program, where she cares for children with complex conditions including Microvillus Inclusion Disease (MVID), DGAT-1 deficiency, TTC7A deficiency, glucose-galactose malabsorption, and tufting enteropathy.
Dr. Jimenez completed her medical education at Washington University, her residency at Seattle Children’s Hospital, and her fellowship in Gastrointestinal Medicine and Nutrition at Boston Children’s Hospital. She also works with Boston Children’s Home Parenteral Nutrition Program and Nutrition Center, providing specialized care for children with complex nutritional and intestinal needs.

Funded PRoject

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Click on image to view "Patient-derived enteroids provide a platform for the development of therapeutic approaches in microvillus inclusion disease"
Dr. Thiagarajah & Dr. Jimenez with the support of their team will embark on a two-tiered investigation into MVID cell behavior and explore potential undiscovered, existing therapies by producing an assay in which a battery of FDA approved therapies can then be tested. It is through this work that their team hopes to reveal what is unknown about MVID, and aim to provide more relief for children living with this disease in the future. 

Boston Children's hospital Research Supported in Part by
TKO Strong Foundation

These three publications have TKO Strong
​Foundation funding acknowledgments. 

Publication 1​

The Journal of Clinical Investigation is a premier venue for discoveries in basic and clinical biomedical science that will advance the practice of medicine.

Patient-derived enteroids provide a platform for the development of therapeutic approaches in microvillus inclusion disease

Publication 2

​Springer Nature Link is the reading platform of choice for hundreds of thousands of researchers worldwide.

The genetics of monogenic intestinal epithelial disorders

Publication 3

Journal of Cell Biology (JCB) is an international peer-reviewed journal owned by The Rockefeller University and published by Rockefeller University Press.

Modeling the cell biology of monogenetic intestinal epithelial disorders

Sven van Ijzendoorn, phd

Professor, Principle Investigator
University Medical Center Groningen
Sven van Ijzendoorn received his Master degree at the University of Maastricht in 1995 and his PhD degree (cum laude) at the University of Groningen (laboratory of Dick Hoekstra) in 1999. With a long-term fellowship of the Human Frontier Science Program (HFSP) he performed his postdoctoral studies at the University of California San Francisco (UCSF) in the laboratory of Keith Mostov. He then returned to the Netherlands to start his research group in the department of Cell Biology at the University Medical Center Groningen, where he is currently appointed as full professor. His research focusses on the molecular mechanisms that control the intracellular dynamics of proteins, lipids and membranes in the context of the functional organization of cells, and to understand how these mechanisms contribute to health or, when disrupted, to human diseases. In this context, his research also focusses on elucidating the pathogenesis of rare congenital disorders, develop patient-specific iPSC-based cell models and identify leads for novel therapeutic strategies. Sven van Ijzendoorn is member of the board of the Netherlands Association for the Study of the Liver (NASL), member of the advisory board of the Dutch Society for Cell Biology, member of the editorial board of ‘Tissue Barriers’, curator of the international registry of patients with microvillus inclusion disease, and program leader of the UMCG Center for Liver, Digestive & Metabolic Diseases.

Funded Project 1

​Microvillus inclusion disease is caused by gene mutations. Many MVID-associated mutations belong to a specific type of mutation, which stops the production of  protein. Recently, drugs have been identified that can suppress this type of mutation and allow functional protein to be produced. With the support of the TKO Strong Foundation, prof. van IJzendoorn and his colleagues will test these drugs on cells from MVID patients to determine whether these drugs can restore their protein function. Some of these drugs are in Phase III clinical trials for other genetic disorders. This means that if their effectiveness can be demostrated in MVID patients' cells, it may be possible to rapidly proceed to a clinical trial.

Funded Project 2

​The procedure to diagnose MVID is difficult and not failproof. An early and correct diagnosis, however, is critical to start appropriate treatment without which patients die during infancy. Therefore, better diagnostic tools are urgently needed.  With the support of the TKO Strong Foundation, prof. van IJzendoorn and his colleagues will determine the potential of a novel technology for a failproof diagnosis of this devastating disease.

MVID International Registry

To gain mechanistic insight in the clinical manifestations of MVID and how these evolve with therapeutic interventions and age, we need a detailed understanding of the spectrum of MVID- associated gene mutations. Therefore, prof. van IJzendoorn and colleagues have constructed an international MVID Patient Registry, accessible at 
http://www.MVID-central.org. 

​The continuous expansion of this registry with additional MVID patients and their gene mutations is essential to improve disease diagnosis, prognosis, and genetic counseling. Therefore, we encourage you to contact
prof. van IJzendoorn to make sure that all MVID patients are included in this registry.