New Study Announcement: The LIMB Study

We are pleased to announce the LIMB study!

Advances in genetics have greatly increased our understanding of how DNA mutations can lead to isolated limb malformations — limb malformations that occur separately from any other clinical problems. Many studies suggest that mutations responsible for isolated limb malformations can occur in regions that regulate genes that are important for limb development. These regions are called “enhancers” and activate genes at the right time and place. If there is a mutation in the enhancer, the gene is not turned “on” properly.

The LIMB study is focused on identifying enhancers that are important for limb development and identifying mutations in these enhancers that could be responsible for isolated limb malformations.

The LIMB study is actively recruiting participants with isolated limb malformations as well as their unaffected family members. Participants will be asked to donate DNA via a saliva or blood sample which will then be sequenced and screened for mutations.

Learn more about the study at http://chipper.ucsf.edu/studies/limb