Research Interests

We have developed and applied genomic technologies to isolate and study human genes, and to understand their chromosomal organization, and molecular mechanisms by which their expression is regulated at the level of signal transduction, RNA transcription and splicing. Initially we focused on the human b-globin gene cluster, and subsequently the interferon-b and TBK-1 genes, and most recently on the Protocadherin (Pcdh) gene cluster. In each of these examples we have studied the impact of genomic DNA sequence variants that associate with human diseases [(b-thalassaemia (globin genes), neurodegenerative and inflammatory diseases (interferon-b, TBK-1), neuro-developmental and neuropsychiatric diseases (clustered protocadherin genes)]. We use animal and induced pluripotent stem cell (IPSC) models, to study the functional impact of disease-causing mutations. For example, we have been involved in studies showing the association of mutations in the IFN-b and TBK-1 genes with severity of Covid 19 infections, the association of mutations in theTBK-1 gene with ALS, and the association of mutations in the Pcdh gene cluster with schizophrenia and autism. Our studies of the Pcdh genes have shown that the gene cluster provides a cell surface "barcode" that is required for neuronal self-identity, a critical function required for normal neuronal cell circuit assembly during development.

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Primary Section

Section 41: Medical Genetics, Hematology, and Oncology

Secondary Section

Section 21: Biochemistry