PiN Faculty Member - Isaac Kohane, MD, PhD

Isaac Kohane, MD, PhD

Lawrence J. Henderson Professor of Pediatrics

Boston Childrens Hospital
Enders Building, Room 144.1
300 Longwood Ave
Boston, MA 02115
Tel: 617-432-2144
Fax: 206-333-1182
Visit my lab page here.

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.

Last Update: 5/12/2014


For a complete listing of publications click here.



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