Research Interests

As a genetic counselor, I have a primary goal of helping individuals and families adapt to the medical, psychological, and familial implications of genetic diagnoses. I have a particular interest in the behavioral and cognitive manifestations of fragile X, Smith-Magenis, 15q duplication, and other syndromes that result in complex intellectual and neuropsychiatric symptoms. My past research work has focused on describing and differentiating clinical aspects of genetic syndromes that cause autism and intellectual disabilities. By extension, I have spent much of my career working to translate clinical research findings into practical services that address the educational, behavioral, and health needs of people with genetic conditions. My experience with this population includes young children through adults, and I have a specific interest in research related to the natural history of behavioral phenotypes over the lifespan. 

A new area of inquiry for me since joining the Geisinger ADMI team  is the study of family genetic background on phenotypic expression in individuals with genetic syndromes. My current work in this area includes research on families with fragile X syndrome, sex chromosome disorders, and 22q11.2 deletion syndrome. Advances in our understanding of family genetic background influences on the severity and range of syndromic effects may someday improve our ability to provide accurate prognoses and targeted interventions. 

An additional area of ongoing research relates to the integration of syndrome-specific neuropsychological information into special education curricula and behavior plans. I have a strong interest in the development of educational models for the training of special educators, psychologists, and other non-genetics professionals who are key service providers on the front lines of intervention for children with special developmental needs.