Joseph D Terwilliger
Joseph D Terwilliger, Ph.D.
Professor of Neurobiology (in Psychiatry, in the Sergievsky Center, and in Genetics and Development)
Research Scientist V, New York State Psychiatric Institute
Adjunct Professor, Pyongyang University of Science and Technology

Address: 622 West 168th Street PH 18-302 New York NY 10032


Education and Training:
B. Mus. - Tuba Performance 1983-1987, Peabody Conservatory of Music
B.A. - Natural Sciences 1983-1987, The Johns Hopkins University
Ph.D. - Genetics and Development 1987-1993, Columbia University
Postdoctoral Studies - Statistical Genetics 1993-1996, Columbia University
Postdoctoral Studies - Statistical Genetics 1994-1996, University of Oxford - Wellcome Trust Center for Human Genetics
bullet  Department of Psychiatry
bullet  Department of Genetics and Development
bullet  Sergievsky Center
bullet  New York State Psychiatric Institute, Division of Medical Genetics
bullet  National Institute for Health and Welfare, Division of Public Health Genomics
bullet  Institute for Molecular Medicine - Finland
Training Activities:
bullet  Department of Genetics and Development
bullet  Wellcome Trust Advanced Courses - Genetic Analysis of Multifactorial Diseases
bullet  Logical Reasoning in Human Genetics
bullet  Pyongyang Summer Institute
Research Summary:
(800 words, max)
Population genetic epidemiology and gene mapping.
Current Research:
My research is focused on development and application of computer software for statistical genetics applications including software for joint linkage and linkage disequilibrium analysis on arbitrarily large pedigrees (Pseudomarker) and software for assisting in the study design process for linkage and linkage disequilibrium analysis (Detectance) - in collaboration with researchers at the University of Helsinki; and software for simulating the evolution of phenogenetic relationships on a genome-wide scale under various models of mutation, selection, and population demographics (ForSim) in collaboration with researchers at Penn State University.

Additionally I am involved in study design and data analysis from numerous field studies in Kazakhstan, Finland, Korea, Venezuela, Mongolia, Russia, China, and Sweden among others. In furtherance of the latter applied aims, I organize and teach workshops on "Logical Reasoning in Human Genetics" in various places throughout the developing world, where the potential human genetic resources far surpass what we could ever hope to accomplish in cosmopolitan western societies like our own."
(6 max)
1. Weiss KM, Terwilliger JD : (2000) How many diseases do you have to study to map one gene with SNPs? .  Nature Genetics  26: 151-158

2. Terwilliger JD, Hiekkalinna T. : (2006) An utter refutation of the "fundamental theorem of the HapMap".  European Journal of Human Genetics  14: 426-437

3. Li Z, Szabolcs M, Terwilliger JD, Efstratiadis A: (2006) Prostatic intraepithelial neoplasia and adenocarcinoma in mice expressing a probasin-Neu oncogenic transgene.  Carcinogenesis  27: 1054-1067

4. Lambert BW, Terwilliger JD, Weiss KM.: (2008) ForSim: a tool for exploring the genetic architecture of complex traits with controlled truth..  Bioinformatics  24: 1821-1822

5. Hiekkalinna T, Schäffer AA, Lambert B, Norrgrann P, Göring HH, Terwilliger JD.: (2011) PSEUDOMARKER: a powerful program for joint linkage and/or linkage disequilibrium analysis on mixtures of singletons and related individuals. .  Human Heredity  71: 256-266

6. Luukonen TM, Pöyhönen M, Palotie A, Ellonen P, Lagström S, Lee JH, Terwilliger JD, Salonen R, Varilo T. : (2012) A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm..  J Med Genet   49: 621-629

URL for lab page: