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RESEARCH

Life is cells. Every living thing is cellular. Every living thing reproduces and evolves. Genes are the units of inheritance and evolution. Genes control cell behavior. Genes are not soloists. They form networks. To understand life we must understand how gene networks control cell behavior. To understand disease we must understand gene malfunction in the context of gene networks. If we could truly understand at least one gene and its network, we would have made much progress in our quest to understand life and disease.

 

Our main research goal is to understand how gene networks control cell behavior. Cancer is our core paradigm, but our discoveries often lead us into other areas of biology. We define cancer as a disease of gene networks gone awry. Our research focuses on the molecular mechanisms by which cancer-relevant genes regulate the networks in which they are embedded. We believe that this type of basic research is a requisite step in the development of effective cancer therapeutics. This field is broad with many important questions, which inspires us to constantly expand our repertoire of approaches and technologies to find answers.

 

Much of our research enterprise focuses on the p53 gene network. p53 is the most commonly mutated gene in human cancer and our research may enable effective cancer therapies. We also study other cancer genes, such as the oncogenes CDK8, HIF1A and p63.

 

More recently, we started to investigate the molecular, cellular and organismal effects of trisomy 21, the genetic condition that causes Down syndrome. In particular, we are interested in elucidating how trisomy 21 causes a different disease spectrum in the population with Down syndrome, protecting these individuals from some conditions (e.g. solid tumors) while predisposing them to others (e.g. Alzheimer's disease).

 

Historically, we employed mostly biochemical, molecular biology and cell biology approaches. More recently we added various genomics approaches to our toolkit, which is enabled by onsite next-generation DNA sequencing and Functional Genomics facilities administered by our lab. Our most recent endeavor is the development of an in-lab bioinformatics practice that allows us to rapidly transition from the computational analysis of genomics data to hypothesis-driven experiments at the bench.  We also develop the animal models necessary to test the hypotheses generated by our cell-based experiments at the organismal level. Finally, our research program at the Linda Crnic Institute for Down syndrome entails a suit of genomics studies using biological samples from individuals affected by trisomy 21.