NLM Scientists Help Discover Genetic Mutations Linked to Bowel Disease

A team of international researchers from the National Center for Biotechnology Information (NCBI), Hanover Medical School, in Germany, University College London, and others, has discovered genetic mutations that cause a rare and severe form of inflammatory bowel disease (IBD) in young children. The discovery allowed doctors to successfully treat a patient with a bone marrow transplant who had not responded previously to other therapies.

Led by Alejandro Schaffer, MD, the NCBI scientists performed the computational analysis which pinpointed the gene malfunctions. By studying genetic data on a family with two affected siblings and two unaffected siblings, the team provided computational and statistical proof.

“NCBI is proud to be a part of this important research, which illustrates how computational biology can facilitate selection of effective treatments,” commented NCBI director David Lipman, MD.

NCBI creates public databases in molecular biology, conducts research in computational biology, develops software tools for analyzing molecular and genomic data, and disseminates biomedical information, all for the better understanding of processes affecting human health and disease.

More information can be found in a November 2009 NIH news release.