Faculty
David Pauls, Ph.D.
Publications by Dr. Pauls
Dr. Pauls is a Professor of Psychiatry (Genetics) at Harvard Medical School and Director of the Psychiatric and Neurodevelopmental Genetics Unit in the Center for Human Genetic Research at Massachusetts General Hospital. Prior to the inception of PNGU in September 2001, he was Professor of Psychiatric and Neurobehavioral Genetics in the Child Study Center at Yale University. Dr. Pauls completed his Ph.D. in Genetics and Cell Biology at the University of Minnesota with a focus on human population genetics. His Ph.D. research examined the genetics of mental retardation and giftedness. After completing his Ph.D. he was a post-doctoral fellow in psychiatric genetics in the Department of Psychiatry at the University of Iowa and psychiatric genetic epidemiology in the Department of Human Genetics at Yale School of Medicine.
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 been concentrated on four different developmental neuropsychiatric disorders: the Gilles de la Tourette syndrome (GTS), 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.
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Shaun Purcell, Ph.D.
Prior to joining the Psychiatric and Neurodevelopmental Genetics Unit
(PNGU) of the Center for Human Genetic Research (CHGR) in December 2004, Dr. Purcell completed his Ph.D. with Professor Pak Sham at King's College London, UK, followed by a 2-year visiting postdoc with Dr. Mark Daly at the Whitehead Institute for Biomedical Research, MIT.
Dr. Purcell's work is focused on developing statistical and computational tools for the design of genetic studies, the detection of gene variants influencing complex human traits and the dissection of these effects in the larger context of other genetic and environmental factors.
Dr. Purcell's specific methodological projects include: developing methods for the analysis of large scale association studies; studying gene-gene interaction (epistasis) and gene-environment interaction; detecting population stratification using genetic marker information; developing software for haplotype analysis; developing online resources for power calculation and simple genetic association analyses. Dr. Purcell collaborates with a number of clinical investigators both within the CHGR and internationally, working on a range of neuropsychiatric diseases including schizophrenia and bipolar disorder.
Information on these and other projects can be found at Dr. Purcell's main web page
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Susan Santangelo, Sc.D.
Publications by Dr. Santangelo
Dr. Santangelo is a genetic epidemiologist who was educated at Wellesley College and the Harvard School of Public Health. Her graduate training was supervised by Drs. Ming Tsuang, David Pauls, and Neil Risch. Formerly at New England Medical Center and Tufts School of Medicine, she joined the Psychiatric and Neurodevelopmental Genetics Unit at MGH in 2002. Her work involves determining the genetic architecture underlying various psychiatric disorders and other disorders with complex inheritance.
Dr. Santangelo is Assistant Professor at both the Harvard Medical School, and the Harvard School of Public Health. Dr. Santangelo is Associate Director of the Training Program in Psychiatric Epidemiology and Biostatistics at the Harvard School of Public Health, where she has been a faculty member since 1994. She is the Director of Statistical Genetics and Genetic Epidemiology in the Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, MGH.
Dr. Santangelo has studied Tourette's syndrome and obsessive compulsive disorder, autism, bipolar disorder, schizophrenia, attention deficit disorder, smoking and nicotine addiction, and age-related macular degeneration using techniques such as parametric ('model-dependent') and non-parametric ('model-free') linkage analysis, case-control and family based association studies, heritability estimation, quantitative trait linkage analysis, and endophenotype measurement and analysis. Dr. Santangelo was the recipient of a Career Development Award from the National Institute of Mental Health (K21 MH01338) and has received grants from The Medical Foundation, the March of Dimes Foundation and the NLM Family Foundation to study autism. Currently, she is the PI of a Family Study of Autism at MGH, as well as Co-PI of a candidate gene study of autism, with Dr. Vijaya Ramesh, also of the CHGR. She is the PI of an R01 grant from the NIMH to study endophenotypes associated with schizophrenia in a genetic isolate in Nepal, and the PI of a pilot candidate gene study of smoking phenotypes which is part of a Transdisciplinary Tobacco Use Research Center based at Brown University.
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Pamela Sklar, M.D., Ph.D.
Dr. Sklar completed clinical training in Psychiatry at Columbia Presbyterian Hospital and the New York State Psychiatric Institute in Manhattan and research training in the laboratories of Solomon Snyder (Johns Hopkins Medical School) and Richard Axel (Columbia University). Her primary laboratory is located in the Psychiatric and Neurodevelopmental Genetics Unit (PNGU) in the Center for Human Genetic Research at Massachusetts General Hospital, where she is an assistant professor of psychiatry and the associate director of the PNGU. Dr. Sklar is also an associate member of the Broad Institute.
Dr. Sklar is a neuroscientist, human geneticist and clinical psychiatrist investigating the genetic causes of psychiatric disorders, including schizophrenia and bipolar disorder. A major focus of her work is to identify susceptibility genes for psychiatric diseases by applying tools developed for understanding and characterizing human sequence variation. Additional work utilizes translational approaches including mouse models of human behaviors as alternate routes to disease genes.
Currently, Dr. Sklar’s group is part of a large consortium of researchers collecting patient samples in collaboration with the Systematic Treatment Enhancement Protocol for Bipolar Disorder (STEP-BD) in order to perform the largest ever association study in bipolar disorder. Her group previously identified an association between the brain-derived neurotrophic factor (BDNF) gene and an increased risk of bipolar disorder. In addition, her group uses the power of genetically homogeneous populations in a positional cloning and linkage disequilibrium mapping strategy in a sample of Portuguese patients with schizophrenia from the Azores and Madeira. This work recently led to the identification of the alpha subunit of the gamma-amino butyric acid (GABA) receptor as a susceptibility gene for schizophrenia. The laboratory also studies the genetics of attention deficit hyperactivity disorder (ADHD) in collaboration with the MGH Pediatric Psychopharmacology unit.
Dr. Sklar’s Broad activities involve using high-throughput methodologies for SNP genotyping to identify disease genes for schizophrenia and bipolar disorder.
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Jordan Smoller, M.D., Sc.D.
Publications by Dr. Smoller
Dr. Smoller is Assistant Professor of Psychiatry at Harvard Medical School and a faculty member of the MGH Psychiatric Neurodevelopmental Genetics Unit (PNGU) in the Center for Human Genetic Research (CHGR). He received his medical degree from Harvard Medical School. After completing his clinical training in psychiatry at McLean Hospital, he received a masters and doctoral degree in psychiatric epidemiology from the Harvard School of Public Health. He continued his research training in psychiatric genetic epidemiology as a postdoctoral fellow in the NIMH Training Program in Psychiatric Genetics. He is a founding member of the MGH Mood and Anxiety Disorders Institute, Director of the Psychiatric Genetics Program in Mood and Anxiety Disorders in the Outpatient Division of the MGH Department of Psychiatry and co-Director of the Genetics and Genomics Unit of the MGH Clinical Research Program.
The focus of Dr. Smoller's research program has been the identification of genetic determinants of mood and anxiety disorders, including bipolar disorder, major depression, and panic and phobic anxiety disorders. Dr. Smoller and colleagues have had a strong interest in phenotype definition and in temperamental precursors of mood and anxiety disorders. He has been studying the genetic basis of temperament profiles that may be intermediate phenotypes for anxiety disorders, depression and attention deficit hyperactivity disorder (ADHD). This approach has included using linkage disequilibrium methods to examine candidate genes selected based on mouse models of homologous phenotypes. Dr. Smoller is also Principal Investigator at MGH of a multi- site research consortium studying the genetics of bipolar disorder. Dr. Smoller and colleagues are also studying pharmacogenetic predictors of response to antidepressant and antianxiety medications. He collaborates with Drs. Sklar, Stephen V. Faraone, Joseph Biederman and colleagues in genetic studies of ADHD. Dr. Smoller and colleagues have also been studying how advances in genetics may impact clinical practice in psychiatry.
Dr. Smoller’s research efforts focus on mood and anxiety disorders and ADHD.
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PROJECT DIRECTORS/CO-INVESTIGATORS
Cornelia Illmann, Ph.D.
Dr. Illmann completed graduate school at the University of Windsor, Ontario, Canada and received her Ph.D. in Developmental Psychology in 1996. She is currently the Project Director/Co-Investigator for the Genetic Linkage Study and the Genetic Family Study of TS, ADHD and OCD. She holds appointments as an Instructor of Psychology in the Department of Psychiatry at the Harvard Medical School and as an Assistant in Research at Massachusetts General Hospital. Prior to joining the PNGU, Dr. Illmann was an Associate Professor of Psychology at Grand View College in Des Moines, Iowa. Her research and teaching interests include language acquisition, language disorders, and developmental psychopathology.
Katherine Tsatsanis, Ph.D.
Publications by Dr. Tsatsanis
Dr. Tsatsanis received her Ph.D. in Clinical Neuropsychology from the University of Windsor, Canada. Her research work and publications focus on autism and related disorders, in addition to several articles in the area of Nonverbal Learning Disabilities coauthored with Dr. Byron Rourke. Dr. Tsatsanis completed her clinical training at the Yale Child Study Center and maintains an adjunct faculty position there. She also holds appointments at Harvard Medical School as an Instructor of Psychology in the Department of Psychiatry and Assistant in Research at Massachusetts General Hospital.
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RESEARCH ASSOCIATES
Mareth Collins-Wooley, B.A.
Mareth Collins-Wooley graduated with a B.A. in Psychology from Smith College in Northampton, MA. While still in school, Mareth worked at LADDERS, a clinic for children with neurological disorders. Before joining PNGU she worked for a year at the Jamaica Plain Veteran's Administration doing research on a treatment for aphasia. Her research interests include sensory issues, theory of mind, and the autism spectrum.
Donna Lacroce, M.S.
Donna Lacroce graduated from Boston College with a BA in Human Development and Sociology. She went on to complete her Master's work in Counseling Psychology at Northeastern University. Donna's clinical experiences include working with children with have a variety of behavioral and emotional issues in both residential and public school settings. Her research interests are varied and include emotion regulation in adults with affective disorders as well as psychiatric disorders and personality characteristics in children with autism, and their families. Donna is currently the Research Coordinator for the Family Study of Autism at Massachusetts General Hospital within the Psychiatric and Neurodevelopmental Genetics Unit. She hopes to eventually go on and earn her Ph.D. in Clinical Psychology.
Thuy Luong, B.A., B.S.
Thuy Luong graduated from Stanford University in June 2005 with a B.A. in Psychology and a B.S. in Biological Sciences. As an undergraduate, Thuy was involved in a lab studying the effects of group psychotherapy on the survival rate of women with metastatic breast cancer. During her senior year, she worked in a nursery school by assisting a team of teachers to provide care and education for young children. Her experience and interactions with those children have inspired Thuy to pursue graduate work in the field of developmental psychology.
Meghan McGinn, B.A.
Meghan McGinn graduated from Boston College with a B.A. in Psychology. She joined PNGU in July of 2004 and works as a research assistant and phlebotomist for several PNGU projects, but primarily the Family Genetic Study of TS, OCD, and ADHD, and the Genetic Linkage Study of Tourette Syndrome. Meghan’s research interests are in the area of family relationships. Specifically, she is interested in marriage and family therapy outcomes, the adjustment of unaffected family members of individuals with psychiatric disorders, and conflict management in families and close relationships. She hopes to pursue a doctorate degree in Clinical Psychology.
Jana Pinto, B.S.
Jana Pinto graduated from Endicott College with a B.S. in Psychology. Her current research interests include psychiatric genetics, schizophrenia, neurotheology and religious experiences within psychiatric disorders. Her clinical experience includes working with HIV+ patients and designing therapeutic models to accommodate their psychological needs. Her clinical interests are psychotherapy and development of therapeutic treatment, as well as improvement and experiment of existing models, such as mindfulness-cognitive, transpersonal and art therapy, among others. Jana plans to pursue a Masters in counseling with specialty in creative arts therapy, and possibly a PhD in clinical psychology, degrees that will provide her resources to open a non-profit therapy center.
Kelly Steen, M.S., CCC-SLP
Kelly Steen graduated with a B.A. in Speech Language and Hearing Science from the University of Colorado in Boulder, CO. She received her M.S. in Speech Pathology from Emerson College in Boston, MA. Kelly’s clinical interests include pediatric speech and language disorders with a particular interest in stuttering. Her research interests include characterizing the supralinguistic and pragmatic language deficits seen in children with Autism Spectrum Disorders as well as identifying and analyzing any similar language deficits in siblings. Kelly is currently the research coordinator for the Neurobiology of Autism and Related Disorders study and she continues to work as a speech-language pathologist with the birth to three population.
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