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Arthur P Goldberg, PhD
img_Arthur P Goldberg
ASSOCIATE PROFESSOR | Genetics and Genomic Sciences
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Research Topics
Autism, Bacterial Genetics, Bioinformatics, Biomedical Informatics, Biophysics, Cancer Genetics, Cell Biology, Computational Biology, Computer Simulation, Genetics, Genomics, Human Genetics and Genetic Disorders, Mathematical Modeling of Biomedical Systems, Mathematical and Computational Biology, Systems Biology
Multi-Disciplinary Training Area
Genetics and Genomic Sciences [GGS]

Software tools for studying heritable diseases

Professor Goldberg creates programs that organize and analyze genetic data. Recently developed tools include

  • A program that identifies the transmission status of variants on the sex chromosomes in males and females.
  • A pipeline that inputs variant call (vcf) and pedigree (PED) files and filters outlier subjects and common variants to produce input for the Transmission And De novo Analysis (TADA) gene risk statistical analysis. The analysis tallies transmitted, de novo, and case-control variants, while properly handling the sex chromosomes and integrating dependency analysis to perform well with over 10,000 subjects.
  • A database that stores and analyzes identifier aliases and pedigree relationships in large samples of genetic subjects.


Gene discovery in complex heritable diseases such as autism

Prof. Goldberg and his collaborators work on identifying risk genes in Autism Spectrum Disorder (ASD).

Work with Christopher Poultney, Joseph Buxbaum and others found that small (1-30 kilobase) copy number variant deletions are enriched in ASD cases versus matched controls. Genes disrupted by these variants are overrepresented in the autophagy pathway, suggesting that improper pruning of neuronal interconnections during development may contribute to autism. This work won a top 10 paper of the year award from SFARI in 2013.

Work with many collaborators including Silvia De Rubeis, Xin He, Christopher Poultney, Menachem Fromer, Kathryn Roeder, Bernie Devlin, Mark Daly, Joseph Buxbaum, and other members of the ASC focused on discovering new autism risk genes on the autosomes. Employing a powerful new statistical model called Transmission and De novo Analysis (TADA) [He et. al., 2013] we implicate 22 autosomal genes at an FDR

BA, Harvard College

PhD, University of California, Los Angeles

20
Publications

Selected Publications

BioSimulators: a central registry of simulation engines and services for recommending specific tools. Bilal Shaikh, Lucian P. Smith, Dan Vasilescu, Gnaneswara Marupilla, Michael Wilson, Eran Agmon, Henry Agnew, Steven S. Andrews, Azraf Anwar, Moritz E. Beber, Frank T. Bergmann, David Brooks, Lutz Brusch, Laurence Calzone, Kiri Choi, Joshua Cooper, John Detloff, Brian Drawert, Michel Dumontier, G. Bard Ermentrout, James R. Faeder, Andrew P. Freiburger, Fabian Fröhlich, Akira Funahashi, Alan Garny, John H. Gennari, Padraig Gleeson, Anne Goelzer, Zachary Haiman, Jan Hasenauer, Joseph L. Hellerstein, Henning Hermjakob, Stefan Hoops, Jon C. Ison, Diego Jahn, Henry V. Jakubowski, Ryann Jordan, Matúš Kalaš, Matthias König, Wolfram Liebermeister, Rahuman S.Malik Sheriff, Synchon Mandal, Robert McDougal, J. Kyle Medley, Pedro Mendes, Robert Müller, Chris J. Myers, Aurelien Naldi, Tung V.N. Nguyen, David P. Nickerson, Brett G. Olivier, Drashti Patoliya, Loïc Paulevé, Linda R. Petzold, Ankita Priya, Anand K. Rampadarath, Johann M. Rohwer, Ali S. Saglam, Dilawar Singh, Ankur Sinha, Jacky Snoep, Hugh Sorby, Ryan Spangler, Jörn Starruß, Payton J. Thomas, David Van Niekerk, Daniel Weindl, Fengkai Zhang, Anna Zhukova, Arthur P. Goldberg, James C. Schaff, Michael L. Blinov, Herbert M. Sauro, Ion I. Moraru, Jonathan R. Karr. Nucleic Acids Research

Simulating single-cell metabolism using a stochastic flux-balance analysis algorithm. David S. Tourigny, Arthur P. Goldberg, Jonathan R. Karr. Biophysical Journal

Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder (Nature Neuroscience, (2017), 20, 9, (1217-1224), 10.1038/nn.4598). Elaine T. Lim, Mohammed Uddin, Silvia De Rubeis, Yingleong Chan, Anne S. Kamumbu, Xiaochang Zhang, Alissa M. D’Gama, Sonia N. Kim, Robert Sean Hill, Arthur P. Goldberg, Christopher Poultney, Nancy J. Minshew, Itaru Kushima, Branko Aleksic, Norio Ozaki, Mara Parellada, Celso Arango, Maria J. Penzol, Angel Carracedo, Alexander Kolevzon, Christina M. Hultman, Lauren A. Weiss, Menachem Fromer, Andreas G. Chiocchetti, Christine M. Freitag, George M. Church, Stephen W. Scherer, Joseph D. Buxbaum, Christopher A. Walsh. Nature Neuroscience

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Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their outside financial relationships.

Dr. Goldberg has not yet completed reporting of Industry relationships.

Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.