HNRNPU in the brain

A Short Abstract in Lay Terms HNRNPU in brain development and disease Application number 2017006 Orly Reiner, Weizmann Institute of Science Tamar Sapir, Weizmann Institute of Science David B. Goldstein, Columbia University Medical Center Orrin Devinsky, NYU School of Medicine Mutations in genes which are important in the developing brain may result in a spectrum of diseases including brain malformations, developmental delay, intellectual impairment, and epilepsy. Here we propose to study the role of one gene in the developing brain and to understand how this gene is involved in brain development diseases. The proposed comprehensive analysis will be achieved through the synergistic collaboration of the two groups. The Israeli group will focus on the neurodevelopmental roles of the gene in the mouse brain, and in human brain organoids derived from human embryonic stem cells. The American group will study how the brain cells work and function. In addition, they will be involved in gene expression studies. Our research is likely to advance our knowledge on basic principles of normal and diseased brain development and may also expose therapeutic opportunities.