Duncan NRI Anthony Zoghbi, M.D.
Get to know Anthony Zoghbi, M.D.
Research focus
The A. Zoghbi Lab seeks to understand the genomic basis of neuropsychiatric disease and translate those insights into improvements in clinical care, disease risk prediction and novel therapeutic development.
The primary goal of the A. Zoghbi Lab is to understand the genomic basis of neuropsychiatric disease and translate those insights into improvements in clinical care, disease risk prediction and novel therapeutic development. Specifically, we use novel phenotyping strategies such as extreme phenotype sampling combined with whole genome sequencing and cutting-edge bioinformatics tools to improve the ability to identify genetic causes of disease. Our work is currently focused on studying rare genetic variation in severe forms of schizophrenia and obsessive-compulsive disorder, though we intend to apply similar strategies across neuropsychiatric disorders.
In addition to our interest in rare variation, we are also exploring the interplay between common polygenic risk and rare variants, structural variation and pharmacogenetics in extreme phenotypes. Through this second area of interest, we aim to better understand the genomic architecture of psychiatric disorders and use genomic data in combination with environmental risk factors to predict those who will be at highest risk for developing a given disease.
The long-term goal of our research is to usher in the clinical implementation of genomics in psychiatry. We envision that this will involve a combination of genomic disease risk stratification for improved biomarker identification and targeted clinical trials, elucidating genetic predictors of treatment resistance and identifying novel genetic targets for therapeutic development.
Dhindsa RS, Zoghbi AW, Krizay DK, Vasavda C, Goldstein DB "A Transcriptome-Based Drug Discovery Paradigm for Neurodevelopmental Disorders.." Ann. Neurol.. 2021 Feb;89:199-211. PMID: 33159466
Halvorsen, M, Samuels J, Wang Y, Greenberg BD, Fyer AJ, McCracken JT, Geller DA, Knowles JA, Zoghbi AW, Grados M, Riddle MA, Bienvenu OJ, Nestadt PJ, Krasnow J, Goes FS, Maher B, Nestadt G, Goldstein DB "Exome sequencing in obsessive-compulsive disorder reveals a burden of rare damaging coding variants." Nat. Neurosci.. 2021 Aug;24:1071-1076. PMID: 34183866
Zoghbi AW, Bernanke JA, Gleichman J, Masucci MD, Corcoran CM, Califano A, Segovia J, Colibazzi T, First MB, Brucato G, Girgis RR "Schizotypal personality disorder in individuals with the Attenuated Psychosis Syndrome: Frequent co-occurrence without an increased risk for conversion to threshold psychosis." J Psychiatr Res.. 2019 Jul;114:88-92. PMID: 31054454
Zoghbi AW, Lieberman JA "Alive but Not Well: The Limited Validity but Continued Utility of the Concept of Schizophrenia.." Psychol Med.. 2018 Jan;48:245-246. PMID: 29072155