Patient Care Bio
The goal of my research is to understand the environmental and genetic etiologies of developmental disorders, such as autism spectrum disorders. Through collaborations with other programs interested in the genetics of autism, we have studied how specific candidate genes are related to autism spectrum disorders. Recently, Dr. Loisa Bennetto, a developmental neuropsychologist here at the University of Rochester, and I were awarded a grant from NIH to study how familial and heritable chemosensory (taste & smell) traits are in families with autism. Problems around feeding behavior are of major concern to families who have children with autism, thus understanding the basic neurobiology chemosensory behavioral and how genetic factors affect these traits can be important for developing new therapies and behaivoral strategies to help treat those with autism.
Another area of autism research that I actively pursuing is investigating how early embryonic exposures known to cause autism affects developmental gene expression. To model these affects, we are using the potent neuroteratogen, valproic acid (Depakote). Valproic acid is used clinically for the treatment of seizures, mania associated with bipolar disorder, migraines, and cancer. In humans, in utero exposure is associated with an increased risk for autism. Early embryonic exposure in rats, results in similar behavioral profiles and neuroanatomical deficits seen in human cases of autism. Thus, this makes valproic acid a useful tool to study the gene-environment interaction which may be critical to causing some cases of autism. Within an hour after exposure, we can measure changes in embryonic gene expression. By determining these alterations, we will be better able to understand the molecular pathways that are altered in autism.
In another study of gene-environment interaction in autism, we are focusing on populations of cases of autism that have known environmental exposures. These include fetal exposures to valproic acid, and another drug linked to autism, misoprostol. By studying the sequences of candidate genes from cases that have known exposures and autism, to those who were exposed with the disorder, we hope to identify genetic features that may increase ones susceptibility to autism.
A third area of research is investigating the teratogenic impact of uncontrolled type-II diabetes. Using rats who have been specifically bred to develop type-II diabetes, or who are resistant to the disorder, we are interested in how embryonic gene expression is different between the embryos with neurotube defects and intra-uterine growth restriction and those who appear to be developing normally.
Finally, we are also investigating the gene-environment interactions that may have an etiology in vulvar vestibulitis, a women's health condition that results in severe chronic pain of the vulva. Estimated to affect 13-15% of women, there are strong indication that genetics plays an important role in the disorder, in that women with fair, light complexions have a greater risk of developing the disorder. We have been investigating the role of genes involved in skin pigmentation and inflammation to the disorders, and identified polymorphic variants which increases the risk of diagnosis.