Joseph Terwilliger, PhD

  • Professor of Neurobiology (in Psychiatry, the Sergievsky Center and Genetics & Development)
Profile Headshot


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."

At present, I am also co-Principal Investigator on an exchange program between Columbia University and Kim Il Sung University in Pyongyang, DPR Korea, which was funded by the President's Global Initiative Fund. I also teach evolutionary genetics in the DPR Korea at the Pyongyang University of Science and Technology, and have been actively collaborating with the American Association for the Advancement of Science on their science diplomacy programs with the North Koreans for many years.

Academic Appointments

  • Professor of Neurobiology (in Psychiatry, the Sergievsky Center and Genetics & Development)


  • Chinese
  • Chinese - Mandarin
  • Finnish
  • French
  • Korean
  • Russian


  • Male

Credentials & Experience

Education & Training

  • PhD, 1993 Genetics and Development, Columbia University Graduate School of Arts and Sciences, NY
  • Fellowship: 1996 University of Oxford

Honors & Awards

National Arts Club Award for Solo Tuba (1990)

Gabriel Lasker Award (2000)

Associate Editor (2001-2004) - American Journal of Human Genetics

Finland Distinguished Professor award - Academy of Finland (2007-2010)


Population genetic epidemiology and gene mapping.

Research Interests

  • Population genetic epidemiology and gene mapping.

Selected Publications

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

Global Health Activities

Korean diaspora project (North korea, South Korea, China, Kazakhstan, Russia, Sweden)

Pyongyang University of Science and Technology - Adjunct Professor

Finnish National Institute of Health and Welfare - Leading Expert

Maracaibo Aging Project co-PI - venezuela

Asian and Circumpolar Genome Project - (Japan, South Korea, Russia, Canada, Greenland, Mongolia, Kazakhstan)