Investigator, Instructor (M) CGM Talkowski M, Mass General Research Institute

Instructor in Neurology Harvard Medical School

15q11.2-13.1; 15q13.3; 16p11.2; angelman syndrome; crispr/cas9; dup15q syndrome; e1a-associated p300 protein; immediate-early proteins; maze learning; protein inhibitors of activated stat; rare diseases; rgds; schizophrenia; stat1 transcription factor Derek joined Dr. Gusella and Dr. Talkowski’s laboratory at the Center for Genomic Medicine in October 2013 as a postdoctoral fellow. During his postdoctoral work, he developed a CRISPR/Cas9 genome engineering approach, SCORE, to model reciprocal genomic disorders (RGDs) by mimicking the in vivo non-allelic homologous recombination (NAHR) mechanism. His current research focuses on the RGDs including 16p11.2, 15q13.3, and 15q11.2-13.1 which are associated with ASD, schizophrenia, intellectual disability, PWS, obesity, Dup15q syndrome and AS. We have successfully established the human isogenic iPSC and derivative neuron models for these RGDs in the lab. We aim to identify the critical components of the RGDs by evaluating the molecular, cellular, and functional alterations from global and individual gene deletion models.