Principal Investigator: Andrew Dauber, MD
Modern genomic techniques allow us to sequence all of the genes in the genome at the same time and to discover novel genetic changes in individual patients. However, once we have discovered the changes, it is often difficult to know whether these changes are causing the patient’s medical issues or whether they are just benign variants. In this proposal, we describe three families each with a unique severe growth disorder in whom we have found a novel genetic change. For each of these changes, there is some evidence to support that they may be causing the patient’s problems but it is not definitive. We propose to engineer these specific changes into human cells or into zebrafish to see whether the genetic changes are able to cause problems in biological pathways related to growth and to result in smaller zebrafish.