Molecular Studies

The molecular mechanisms underlying neurological and psychiatric conditions, like 3q29 syndromes, are not well understood. Studying these mechanisms could lead to a better understanding of these conditions and, eventually, to improved patient care.

Since human neurons cannot be directly studied in vitro (outside of a living organism), opportunities to investigate changes in cells from patients with specific conditions at the molecular level have been limited. Fortunately, recent advances in cell biology have made it possible to re-program cells from easily-sampled tissues such as blood or skin into neurons, which can be grown in culture (controlled laboratory conditions).

With these “re-programed” cells, it is possible to measure numerous parameters including cellular structure, signaling activity, and protein localization and function to cells from unaffected individuals.

Our goal is to identify changes at the cellular and molecular level in the cells of individuals with 3q29 deletion to better understand how this genetic disruption results in specific neurological characteristics in humans. Such information may eventually inform patient care and provide new insights into other neurological conditions as well.