Patients with epilepsy and inflammatory bowel disease to get DNA sequenced in study

3000 exomes study to sequence patients with epilepsy, IBD

Boston Children’s Hospital has embarked on a strategic initiative to accelerate and expand its research genomics gateway, with plans to sequence the DNA of 3,000 patients with epilepsy or inflammatory bowel disease and their family members. Patients will have access to enroll in this pilot study if their condition is of likely genetic origin but lack a diagnosis after initial clinical genetic testing.

Sequencing will cover the entire exome, containing all of a person’s protein-coding genes. The Epilepsy and IBD were chosen for the pilot because Ann Poduri, MD, MPH and Scott Snapper, MD, PhD, have already made huge inroads into the genetics of these respective disorders. Both have built large, well characterized patient databases for research purposes, have disease-specific genetic expertise and have begun using their findings to inform their patients’ care.

Snapper directs Boston Children’s Center for Inflammatory Bowel Disease and is a leader of an international infantile and Very Early Onset IBD sequencing effort. Poduri directs the Epilepsy Genetics Program at Boston Children’s and co-directs the Neurology Department’s Neurogenetics Program, and a key part of epilepsy genetics research nationally and internationally.

Scott Snapper and Ann Poduri, leading 3000 Exomes study of epilepsy, IBD

The technical muscle will be provided through expanded vendor relationships. GeneDx is providing DNA sequencing services and clinical confirmation of genetic diagnoses, while WuXi NextCODE is providing an integrated diagnostics and research database platform that will aid in interpreting genetic variants, quickly comparing them with public genomic databases and cross-referencing relevant reports in the medical literature. The initiative will also use BCH Connect, the Boston Children’s genomics gateway, first deployed in 2016.

“We believe the combination of disease expertise and large, well characterized patient populations provides us with a unique opportunity to enhance our understanding of disease processes while providing patients with enhanced diagnostics,” says Chief Scientific Officer David A. Williams, MD. “In some cases, we may also identify new targets for the development of novel therapies.”

Read more in this press release.

Families interested in enrolling in these pilots can contact the the IBD Center,, or the Epilepsy Genetics Program, (617-355-5254).