Kimaya

Noonan Syndrome is a type of genetic disease that includes many symptoms, most commonly, congenital heart defects and general atypical development. Noonan’s is caused by a mutation in the Ras-MAPK cell signal pathway. Our focus in our lab work is PTPN11 and RAF1– two example genes that have this mutation, and are the genes that I have been helping to target in our lab work. The overall goal of this research is to test the lethality of these genes using Drosophila models, as well as find plausible drugs that show the highest survival rates with Noonan Syndrome, such as statins. Drosophila models are useful and accurate for clinical applications as they are easy to genetically modify and they match the human genome by 75%. We can express the target genes in Drosophila using a genetic tool called CRIMIC. Then, we test the survival of certain genetic mutations as well as the success of this genetic tool. In addition, we were able to conduct drug screenings with statins– testing the survival of the fly models with different drug concentrations. Preliminary findings, such as the waiting time before activating the genes in flies and statin experiments, help us to guide our drug experiments, ensuring the most success. We found that RAF1 variants cannot be rescued by statins, specifically Lovastatin and Simvastatin, in CRIMIC experiments. Overall, researching the lethality of these different Noonan mutations can further bring us to clinical applications and further understanding of genetic diseases as a whole.