SPD-SWG Participants

Pauls, David L., PhD

Title: Director
Department: Psychiatric and Neurodevelopmental Genetics Unit in the Center for Human Genetic Research at Massachusetts General Hospital
Institution: Harvard Medical School
Mailing Address: 149 13th Street, 10th Floor, Charlestown, MA 02129
Phone: (617) 726-0793
Website: www.hms.Harvard.edu

Research Interests

Over the last 25 years, Dr. Pauls' research has focused on understanding the underlying genetic mechanisms important for the expression of human behavior. His primary goal has been to understand the etiologic mechanisms (both genetic and non-genetic) that underlie the manifestation of specific behaviors that begin in childhood and continue over the life course. His research has focused on four different developmental neuropsychiatric disorders: the Gilles de la Tourette syndrome, obsessive compulsive disorder (OCD), high functioning autism/Asperger's syndrome and specific reading disability. In the past decade, the approach has been to examine components of the clinical phenomenology of each of these conditions and their transmission within families. Over the years, Dr. Pauls' laboratory has employed clinical, quantitative and molecular genetic approaches, including:

Family/genetic studies

Segregation studies examining the transmission of specific phenotypes Genetic linkage and association studies designed to localize and characterize genes that confer susceptibility to these conditions Prospective longitudinal studies designed to exploit the linkage findings to examine the interactions of identified genes and environmental factors

Dr. Pauls' current research efforts focus on Gilles de la Tourette Syndrome, Obsessive Compulsive Disorder, Autism, Asperger's Syndrome, Specific Reading Disability and Bipolar Affective Disorder.

SPD Research Summary

Dr. Pauls and colleagues are conducting a prevalence and family study of sensory over-responsiveness (SOR) in individuals with Attention- Deficit/Hyperactivity Disorder, Obsessive Compulsive Disorder or Gilles de la Tourette Syndrome. Despite the high prevalence of SOR symptoms in the general population (estimated to be ~5%), little research has been done to understand better the phenomenology and etiology of SOR and its relation to other conditions. This study is collecting SOR data on a sample of 600 children with ADHD (N=200), OCD (N=200) and GTS (N=200) and their first-degree relatives. It will be the first systematic study designed to obtain prevalence data in a sample of children with psychiatric disorders and their families. Since data is being collected from all family members, it will also be possible to examine the familial patterns and test specific genetic hypotheses regarding the transmission of SOR within families. In addition, DNA is being collected from all families participating in this study. Thus future studies can include candidate gene studies once more is known about the underlying etiology of SOR.

Back to SPD-SWG Participants

Mail this page to a friend