Genetics of Brain Development and Behavior

How can DNA build a brain? And can we decode the molecular message? These are questions that fascinate me and serve as the foundation for my scientific curiosity. We can decipher the genetic blueprint of our mind by studying genetic conditions that affect behavior, such as psychiatric disorders.

Autism is a behavioral disorder of social deficit that affects 1% of Americans. De novo mutations, those that are found in children but not in parents, underlie nearly 30% of Autism cases. Studying de novo mutations holds the promise to better understand brain development and the genetics of human behavior. Most importantly, identifying critical genes provide new leads in therapeutics and prevention.

My research trajectory is to better understand the genetics of psychiatric disorders through genome sequencing, with the goal to provide a clearer understanding of the genetics of brain development and to lay the groundwork for therapeutics and preventative measures.

Structural Variation

Did you know after writing On the Origin of Species that Charles Darwin struggled to find a mechanism explaining his theory? He thought tiny particles from all over the body collected in the gonads, and the environment could alter these. He and his cousin Francis Galton tested this hypothesis in the 1870s through blood transfusions in two different rabbit breeds.

Needless to say the results did not support the hypothesis. However, in hindsight the answer is obvious, mutations in DNA drive evolution and big jumps in evolution are often caused by big mutations.

Structural Variation (SV) are mutations on the order of 50bp and larger, they can be deletions, duplications, insertions, inversions, or complex rearrangements. SV is a major driver of evolution and underpin many human diseases.

A major focus of my research is understanding functional impact of SV and developing new computational methods to better characterize SV in next generation sequencing data.