Funding outcome

A big challenge in medical research is the study of ultra rare human disease, especially where it is impossible to find and study the people with the disease directly. Because of this problem, we need new ways to search and find answers to questions when doing research for ultra rare diseases. In the past, our lab found a change in the gene called MET that showed us that the rare disease called osteofibrous dysplasia (OFD) could be passed down in a family. This disease only occurs in children on a single bone which leads to problems with its structure as they grow. The problems can lead to bone fractures and constant pain afterwards, and we do not know why the structural problems happen. We also see this change in some women when we diagnose them with stomach and/or lung cancer, because of this, we want to find out why the MET change affects both groups differently. To help answer these questions we will create a way to study osteofibrous dysplasia using human cells with this change in MET. We will use human cells because we found that this genetic change does not work in mice the same way it works to cause the disease in children. Methods known as CRISPR/Cas9 and direct reprogramming will be used to make this bone tissue from skin cells that contains the genetic change linked to OFD, creating a model for this disease in humans for testing new drugs. These new drugs could be used for both lung and stomach cancer research as well as OFD research.