Molecular Cytogenetics Laboratory

The Molecular Cytogenetics Laboratory specializes in genome-wide studies of chromosome structure and gene expression using microarray technology in people with autism and neurodegenerative disorders.

Current research projects are studying:

• Gene expression in lymphocytes of children with juvenile Batten disease, and the possibility of developing stem cell therapy for this disorder. Juvenile Batten disease is the most common disorder among a group of severe neurodegenerative storage conditions affecting the central nervous system, collectively termed Batten disease. We are studying the gene expression in peripheral lymphocytes of these patients in order to further clarify previously observed immune abnormalities. The possibility of developing stem cell-based therapy for juvenile Batten disease is in its initial consideration.
• Genomic abnormalities in autism: The aim of these studies, using microarray CGH technologies, is to identify new genes of importance for autism. Our studies of several newly identified cases of small chromosomal abnormalities may be the basis of further investigations to describe particular gene-contributors to autism. 
• Gene expression in lymphocytes from people with dementia associated with Down syndrome (DS): We are exploring the hypothesis that immune activation plays a role in the dementia that occurs in individuals with DS.