Currently newborns get a “heel stick” test to screen for about 30 inherited, treatable metabolic disorders. What if screening were expanded to sequence newborns’ entire genomes? The five-year BabySeq project, launched in 2013 by Boston Children’s Hospital and Brigham and Women’s Hospital, will look at the impact of such screening and the medical and ethical issues involved. More on the BabySeq grant announcement.
The CLARITY Challenge (Children’s Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information) is designed to identify best practices for the analysis, interpretation and reporting of DNA sequence data, and to provide the most meaningful results to clinicians, patients and families. The first challenge focused on rare disease, with results published in Genome Biology. The winners of CLARITY I were announced in our Newsroom and in our science blog, Vector. A new challenge will be announced shortly.
Undiagnosed Diseases Network
An NIH-funded consortium of Boston Children’s Hospital, Brigham and Women’s Hospital and Massachusetts General Hospital is seeking to solve diagnostic “mysteries” and provide care to patients with unknown disorders, via careful clinical evaluation, genetic and genomic analysis, environmental exposure analysis, proteomics, metabolic studies, systems biology, and network medicine analysis. Launched in July 2014, the consortium is one of six new clinical sites in the NIH Undiagnosed Diseases Network (UDN). Read more.
Manton Center for Orphan Disease Research
Founded in 2008, the Manton Center is the first center solely devoted to studying rare diseases. Manton scientists are investigating the genetic causes of a variety of rare diseases with the goal of developing diagnostic tools and effective treatments. The center’s state-of-the-art Gene Discovery Core, which includes a disease registry and DNA repository, is now enrolling patients from all over the world.
Adverse drug reactions affect some 70,000 children annually in the U.S. In a new research study called InforMED Kids, investigators are taking pharmacogenomics to the hospital’s epilepsy, end-stage renal and IBD programs, where patients typically require multiple medications. Using genetic information, they hope to predict adverse reactions to medications, ultimately enabling clinicians to select individualized therapies. The InforMED Kids study will enroll 1,000 children, returning results to the children’s health care providers.
ReSeq, short for Research Sequencing, was launched in 2012 and receives requests from clinicians and researchers throughout the Boston Children’s Hospital for no-cost whole-genome or whole exome sequencing—including many “cold cases” that can now be solved with new technologies.