Patients & Caregivers

Brenda Finucane, MS, LGC

ADMI Associate Director & Professor

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From the beginning, Finucane’s career has straddled two worlds: clinical and research. While her background is in genetic counseling, Finucane worked for almost three decades in a human services organization that focused on special education and psychology and used a non-medical model to provide support services for adults and children with intellectual and developmental disabilities. This background informs her research interests, which bridge the gap between the science of genetics and practical applications to the real world. Finucane focuses on describing and differentiating clinical research findings into practical services that address the educational, behavioral, and health needs of people with genetic conditions.

Finucane’s previous position at Elwyn, an internationally known human services organization for people with developmental disabilities, gave her access to large populations of patients with rare syndromes. At Elwyn, Finucane helped to lay much of the groundwork for what is now known about two important conditions: fragile X and Smith-Magenis syndromes. Finucane’s work on fragile X spans its history from early work describing the phenotype, to validating tests that diagnose fragile X, to authoring practice guidelines on how to counsel patients with FMR1 mutations, and most recently to working on recruitment efforts for clinical trials of pharmaceuticals targeted to fragile X. Finucane is currently working toward bringing fragile X pharmaceutical clinical trials to Geisinger.

Smith-Magenis syndrome (SMS) is a neurobehavioral disorder with clinical features that include intellectual disability, sleep disturbance, craniofacial differences, and a distinctive profile of stereotypic and self-injurious behaviors. Finucane’s work includes describing and codifying the behavioral phenotype of the syndrome. She has published key papers on genetic, medical, and behavioral aspects of SMS. In addition she founded an international support group which now includes more than 600 families. Finucane considers her work on SMS to be a model for understanding the correlations between gene function and behavior.

While Finucane derived enormous satisfaction from her work at Elwyn, what was missing was the power of the science and medicine available at Geisinger. ADMI focuses not only on cognitive and behavioral phenotypes of well-known genetic conditions, but also on newly described genetic contributors to autism and other neurodevelopmental disorders. As Finucane describes her recent career move, “Coming to Geisinger challenged me to move out of my comfort zone and allowed me to take my work to a new level. Rather than being simply a collaborator, with Geisinger’s focus on genomics, I’m able to be on the front lines of research into the complex underpinnings of developmental brain dysfunction.”

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