Collaborative Partners

CSG Project Descriptions and Collaborating InvestigatorsThe core mission of our sequencing program is partnership with colleagues around the world to pursue exome sequencing on the most informative and clinically detailed and extreme population samples - but performing all individual collaborative studies in a framework in which all data is ultimately integrated across all studies in order to advance gene discovery and clinical insights most definitively.  HIESP will have partnerships with many “Collaborative Study Groups” (CSG), defined as an investigator or team of investigators who have collected an IBD sample that both the CSG and our program team are enthusiastic to perform an exome sequencing study on. To initiate a project, a representative of the CSG will be asked to provide an example consent form to the Broad Institute compliance office (to insure we understand what can be done and what data release may be permitted) and will be asked to sign a Memorandum of Understanding regarding expectations about exome sequencing results. After these preliminary administrative steps (and any additional required by the CSG), DNA transfer and exome sequencing can be initiated. Exome sequencing data, both raw BAMs (if desired), and processed VCF generated by the current production version the state-of the-art Picard-GATK pipeline will be provided to the CSG from the Broad Institute following the application of standard QC procedures to insure accuracy and sample fidelity according to a data freeze schedule worked out for each project. The CSG will be free to use and publish on their data (acknowledging support of HIESP), with an expectation that an initial publication describing the CSG-specific experiment will be developed collaboratively by the CSG and Broad/Daly teams. At present a number of studies have been initiated under the HIESP, with sequencing support primarily coming from the Helmsley Trust and the NHGRI. CSGs with additional sequencing data generated elsewhere can contribute this data to HIESP (and have it reprocessed and jointly called with HIESP/Broad generated data).  Furthermore, CSGs with funding to extend their own projects can take advantage of the same lowest exome pricing available and can contact Christine Stevens for details. A current list of CSG partnerships and collaborating investigators is provided below:

  • IBD in Ashkenazi Jewish population
    • Judy Cho, Mount Sinai School of Medicine
    • Dermot McGovern, Cedars-Sinai Medical Center
    • Inga Peter, Mount Sinai School of Medicine
    • Tony Segal, University College London
    • Vincent Plagnol, University College London
    • Dan Turner, Hebrew University of Jerusalem
    • Ann Pulver, Johns Hopkins University
  • IBD in Finland
    • Martti Farkkila, Helsinki University
    • Kimmo Kontula, Helsinki University
    • Päivi Saavalainen, Helsinki University
    • Aarno Palotie, FIMM, Helsinki University & Massachusetts General Hospital
  • IBD in French-Canadians
    • John Rioux, Université de Montreal- Bio

    • VEO-IBD- Early-onset IBD in infants and toddlers will focus on exome sequencing of the earliest-onset childhood IBD cases. It has long been recognized across medicine that penetrant genetic risk factors are more likely to be found in cases with unusually early onset.  Samples with IBD onset before 6 years of age – particularly before age 3 - collected by IBD researchers around the world are welcomed for inclusion in this study.
      • Harland Winter, Massachusetts General Hospital- Bio
      • Christopher Moran, Massachusetts General Hospital- Bio
      • Bob Baldassano, Children's Hospital of Philadelphia
      • Dan Turner, Hebrew University of Jerusalem
    • Necrotizing enterocolitis (NEC)- NEC is a medical condition primarily seen in premature infants, where portions of the bowel undergo necrosis (tissue death). It occurs postnatally (i.e., is not seen in stillborn infants) and is the second most common cause of mortality in premature infants, causing 386 deaths in the United States in 2011, down from 472 in 2010.
      • Hans-Christian Reinecker, Harvard University- Bio

    • Thiopurine induced myelosuppression
      • Tariq Ahmad, Exeter
      • Graham Heap, Exeter
      • Dermot McGovern, Cedars-Sinai Medical Center



      • Harry Sokol, INSERM & Hôpital Saint Antoine, Paris
      • Rinse Weersma, University of Groningen
      • Andre Franke, University of Kiel
      • Ashwin Ananthakrishnan, Massachusetts General Hospital
      • SHARE investigators