David J. Kwiatkowski


Department of Medicine
Brigham & Women's Hospital
Genetics Laboratory, Translational Medicine Division
Karp Building, Room 6-216
1 Blackfan Circle
Boston, MA 02115
Tel: (617) 355-9005
Fax: (617) 355-9016
Email: dk@rics.bwh.harvard.edu

 

We are interested in the tumor suppressor gene syndrome tuberous sclerosis, and the functions of its causative genes, TSC1 and TSC2. We pursue studies on the human molecular genetics of this disease, develop mouse models using null and conditional alleles of TSC1 and TSC2, explore biochemical and signaling pathways, and explore therapeutic approaches. There is a particular interest in the generation of brain models of this disorder, and understanding how the brain-related manifestations (seziures, autism, cognitive delay) occur.  There is also particular interest in the role of the TSC1 and TSC2 genes and other genetic changes that occur in the tumor syndromes that occur in TSC, including renal angiomyolipomas, pulmonary lymphangioleiomyomatosis, and subependymal giant cell astrocytoms.  There is also an interest in the role of the TSC genes in the common adult malignancies, especially bladder cancer.

 

Research approaches in common use in my lab include DNA variation detection, automated sequencing, generation of conventional and conditional mouse knock-outs, primary cell culture, protein analysis and immunoblotting, signaling pathway analysis, and high throughput sequencing and genotyping. I am Director of the Brigham and Women's Hospital DNA Sequencing Core Facility, and Director of the Harvard Partners Center for Genetics and Genomics Genotyping Facility, and a visiting scientist at the Broad Institute.

 

 

References:

 

For a complete listing of publications on PubMed, click here.

 

BBS webpage updated 6/14/2010