Funded by our research partners PORT, this project will make contact with the families of children in the UK diagnosed with Chronic Intestinal Pseudo Obstruction (CIPs).

Funding will be available to enable children and families to travel to clinics where they can give blood, and, where necessary enable families to stay overnight. Samples will then be delivered to the 100k Genomes database where they will be stored and made available for research purposes.

In 2012 the Great Ormond Street Hospital (GOSH) gastroenterology service was designated a national (NHS England Highly Specialised) service for all UK children developing CIPO under the age of five years, with more than 60 children diagnosed so far. In 2017 the 100k Genome Project was launched in the UK and now includes CIPO amongst the portfolio of rare conditions.

The aim of the 100k Genome Project is to collect the genetic data from a large group of patients in one place in order to make it easier to carry out the research that is needed to improve diagnosis and treatment of diseases.

The research team

The project is being led by Dr Nikhil Thapar at Great Ormond Street Hospital.

Why collect samples from children with CIPs for the 100k Genomes database?

Chronic intestinal pseudo-obstruction (CIPO) is the term used to describe a group of rare and devastating disorders caused by a failure of the nerves and muscles of the gut to develop and/or function normally. This makes the intestine incapable of moving its contents, leading to problems of pain, bloating and malnutrition.

Children with CIPO have a particularly severe form of the condition that can unfortunately prove fatal. It is known that some children with CIPO have an underlying genetic basis (gene mutations) but this has never been systematically studied. If such a genetic basis could be determined, this could lead to targeted treatment as well as improved diagnosis.