1,000 rare diseases in the aim of BGI@CHOP

The large collaboration between BGI and Children's Hospital of Philapdelphia (CHOP) for the study of pediatric diseases has now been expanded to include the study of 1,000 rare diseases with a single-gene inheritance pattern. This initiative is based on the well established collaboration between BGI and CHOP, started this fall, and on the consideration that rare diseases individually affect a small percentage of the population but taken cumulatively they affect roughly one in every 12 newborn children.

Combining the sequencing and bioinformatic skills of BGI with the biobank and data from CHOP the team hopes to rapidly identify variants that could be used for the diagnosis of these rare diseases and and the development of new therapeutical interventions.

Both institutions gave the official announcement yesterday (18th June).
(BGI here and CHOP here).