The aim of our research is to find genes that predispose to Crohn’s disease and ulcerative colitis (collectively, inflammatory bowel disease or IBD) in the Ashkenazi Jewish population, in whom these diseases are four-fold more common. We hope that by identifying such genes we will better understand the underlying cause of IBD, an important step towards improved diagnosis and treatment. Research to date has found over 200 genetic variants associated with IBD. However, they only account for a small proportion of the genetic predisposition to these diseases. We are looking for very rare, and perhaps family-specific variants, that will help explain why certain families and people of Ashkenazi Jewish descent are at a greater risk.
We are pleased to report that over 2,500 people have responded to our recruitment drive (internationally), of whom 1,890 have provided saliva samples. Thus far, we have sequenced the DNA from almost 500 sporadic cases (with no known family history of IBD) and almost 600 familial cases of IBD (individuals with one or more affected relatives). We are currently in the process of intensively analysing the results of the sequencing data and hope to have preliminary findings over the coming months.
Since our last progress report, we have written and contributed to a number of peer-reviewed scientific publications. Along with colleagues from New York, we have identified a mutation in a gene called CSF2RB which increases the risk of Crohn’s disease by approximately two times in Ashkenazi individuals. This work, published in the leading journal Gastroenterology, focusses our attention on a specific immune pathway and we are in the process of planning further laboratory work to understand the precise mechanism by which this gene and its abnormal function contribute to Crohn’s.
We will continue to keep you updated on the progress of our research. Please do not hesitate to contact us if you have any information you would like to share with us or have any questions.
2. Funding for the Research
Despite the progress and success to date, partly due to the ramifications of Brexit, we are having difficulty in obtaining funding to continue this research beyond mid-2018. Professor Segal is currently applying for grants, which if unsuccessful, will necessitate the termination of the research. If you are aware of any potential sources of funding, we would be very grateful to hear from you.
3. Jewish Digest IBD Event
Jewish Digest (www.jewishdigest.org), the UK based Jewish IBD charity, has asked us to inform you of an event they are holding together with Camp Simcha (www.campsimcha.org.uk). On Wednesday 22nd February a panel of doctors, researchers (including us) and dieticians will be assembled to give talks on paediatric/adolescent IBD and to answer your questions.
Elena Schiff, PhD
Adam P. Levine, MBBS, PhD
Tony Segal, FRS