As a graduate research trainee, I had a keen interest in investigating the effects of disease-associated de novo mutations on protein function and molecular signaling pathways in schizophrenia and autism. During my predoctoral traineeship at Columbia University under Dr. Joseph A. Gogos, I delved into studying rare de novo mutations in the SETD1A gene associated with schizophrenia. My research primarily focused on generating and analyzing human SETD1A-deficient neurons in schizophrenia. Through this research, I was able to demonstrate that the protein targets of Setd1a are strongly correlated to schizophrenia Genome-Wide Association Study signals. My findings were published as a co-author in Neuron in 2019.
Publications
Recapitulation and reversal of schizophrenia-related phenotypes in Setd1a-deficient mice
Jun Mukai, Enrico Cannavò, Gregg W Crabtree, Ziyi Sun, Anastasia Diamantopoulou, Pratibha Thakur, Chia-Yuan Chang, Yifei Cai, Stavros Lomvardas, Atsushi Takata, Bin Xu, Joseph A Gogos
Neuron, vol. 104(3), 2019, pp. 471-487. e12