My research is aimed at identifying genetic variation that puts a person at risk to develop a disorder. The application of new genomic sequencing approaches is an important part of my current studies. Significant scientific contributions include the identification MFN2 and DNM2 as genes for…
more inherited peripheral neuropathies, genes for inherited spastic paraplegia and retinitis pigmentosa, and work on obsessive-compulsive disorder, Alzheimer and Parkinson disease. I am also interested in the molecular mechanisms that determine pathological consequences of such variation in in vitro and in vivo models of disease. My molecular interests focus on mitochondrial and endoplasmic reticulum biology, including the associated lipid metabolism.
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