Isaac S. Kohane, Ph.D., M.D.

Lawrence J. Henderson Professor of Pediatrics

Harvard Medical School

300 Longwood Avenue

Boston, MA  02115

Telephone:  617-432-2144

Fax:  206-333-1182

Email: isaac_kohane@hms.harvard.edu
Lab website:  http://www.chip.org

My approach to neurodevelopmental diseases ranges from the purely statistical (Eisenberg, et al.,
2007; Lu, et al., 2004) to methods that combine biological insight with computational perspectives.
For example, I have studied the functional genomics of the developing brain and using a
developmental lens to investigate a variety of neurodevelopmental disorders. For obvious reasons,
the developing mouse brain provides a more detailed window into the developmental time frame
but we have shown that we can use this window to tease apart the mechanisms of human CNS
malignancy (Kho, et al., 2004). We are currently using this technique to tease apart the processes in various CNS diseases, but autism spectrum disorder (ASD) in particular. Other integrative
approaches include using an automatic extraction of gene annotations with neurological disease to
focus transcriptome-wide studies on the particular pathways involved in ASD (Wall, et al., 2009).
Of relevance to many students wishing to investigate their hypotheses in human populations, I lead
a large national center for biomedical computing entitled “Integrating Biology and the Bedside”
(Murphy, et al., 2009) that allows very rapid acquisition of large numbers of tightly phenotyped
biological samples for study (e.g. sequencing). Finally, I am working on expression profiling for the
prediction of ASD with preliminary results that appear promising.

Selected References:

• Eisenberg, I., Eran, A., Nishino, I., Moggio, M., Lamperti, C., Amato, A.A., Lidov, H.G.,
  Kang, P.B., North, K.N., Mitrani-Rosenbaum, S., Flanigan, K.M., Neely, L.A., Whitney, D.,
  Beggs, A.H., Kohane, I.S. and Kunkel, L.M. (2007) Distinctive patterns of microRNA
  expression in primary muscular disorders, Proc Natl Acad Sci U S A, 104, 17016-17021.
• Kho, A.T., Zhao, Q., Cai, Z., Butte, A.J., Kim, J.Y., Pomeroy, S.L., Rowitch, D.H. and
  Kohane, I.S. (2004) Conserved mechanisms across development and tumorigenesis revealed
  by a mouse development perspective of human cancers, Genes Dev, 18, 629-640.
• Lu, T., Pan, Y., Kao, S.Y., Li, C., Kohane, I., Chan, J. and Yankner, B.A. (2004) Gene
  regulation and DNA damage in the ageing human brain, Nature, 429, 883-891.
• Murphy, S., Churchill, S., Bry, L., Chueh, H., Cai, T., Weiss, S., Lazarus, R., Zeng, Q.,
  Dubey, A., Gainer, V., Mendis, M., Glaser, J. and Kohane, I. (2009) Instrumenting the
  health care enterprise for discovery research in the genomic era, Genome Res.
• Wall, D.P., Esteban, F.J., Deluca, T.F., Huyck, M., Monaghan, T., Velez de Mendizabal, N.,
  Goni, J. and Kohane, I.S. (2009) Comparative analysis of neurological disorders focuses
  genome-wide search for autism genes, Genomics, 93, 120-129.

Next faculty member (Ed Kravitz)

Previous faculty member (Kwang-Soo Kim)