Faculty

Daniel J. Rader, M.D.

Daniel J. Rader, M.D., Director of ASPE, is Chair of the Department of Genetics and Chief of the Division of Translational Medicine and Human Genetics at the Perelman School of Medicine. He is also Associate Director of Penn’s Institute for Translational Medicine and Therapeutics.  Dr. Rader has a special interest in using human genetics to provide biological insight into human disease and identify new targets for therapeutic development. His own area of research is in cholesterol metabolism and heart disease. His lab helped to identify mutations that cause low cholesterol. Subsequently, the gene carrying these mutations became a target for a new therapy, for which he led the clinical development. This decade-long endeavor led to FDA and European approval of lomitapide, the first effective medication for the treatment of a severe inherited form of high cholesterol.  Dr. Rader is focused on leveraging human genetics across a wide range of human disorders to facilitate the development of new therapies.

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Edward S. (Ted) Brodkin, M.D.

Edward S. (Ted) Brodkin, M.D., Co-Director of ASPE, is Associate Professor of Psychiatry and Director of the Adult Autism Spectrum Program at the Perelman School of Medicine, University of Pennsylvania. Dr. Brodkin has more than 20 years of experience in clinical work and clinical research on Asperger syndrome / autism spectrum disorder (ASD), as well as in fundamental research on the genomics and neurobiology of social behavior development. He has numerous publications on genetic mouse models relevant to ASD. He is principal investigator of an NIMH-funded project to develop a novel cognitive-behavioral treatment program to improve social functioning in adults with Asperger syndrome / ASD. Dr. Brodkin will add expertise in the human phenotypes of Asperger syndrome / ASD, quantitative phenotypes for genomic studies, translational biology, and treatment development.

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Maja Bucan, Ph.D.

Maja Bucan, Ph.D., Co-Director of ASPE, is a Professor of Genetics at the University of Pennsylvania. Her research focuses on the genetic basis of neurodevelopmental and psychiatric disorders. Her laboratory played a critical role in the analysis of copy number variants in 1500 families with Autism Spectrum Disorders, including families with ASD-Asperger sibling pairs. Her current work includes family-based analysis of mental illness in a large multigenerational Old Order Amish pedigree. For many years, Dr. Bucan served on the Steering Committee for the Autism Genetics Research Exchange, the first large collection of Autism and Asperger families (supported initially by Cure Autism Now and later Autism Speaks). She is also a founding member of the Center for Autism Research at Penn and Children’s Hospital of Philadelphia.

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Laura Almasy, Ph.D.

Laura Almasy, Ph.D., is a Professor of Genetics at the Perelman School of Medicine and is part of the Lifespan Brain Institute and the Department of Biomedical and Health Informatics at the Children’s Hospital of Philadelphia. Dr. Almasy is a leading statistical geneticist, known for her contribution to the development and application of statistical methods for the localization and identification of genetic effects on common, complex diseases and related quantitative traits. Dr. Almasy directs the Genetic Analysis Workshop, an international forum for development and testing of statistical genetic methods and has made a major contribution to the development of novel statistical genetics methods for family-based analysis. She also applies these state-of-the-art methods to study the genetic basis of a wide range of complex diseases, from cardiovascular disease and metabolic disorders to neuropsychiatric illness, including schizophrenia and alcohol dependence, as well as to normal variation in brain structure and function. Dr. Almasy brings an important expertise in integrative analysis of genotype, sequence and phenotype data in extended families.

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Christopher Brown, Ph.D.

Christopher Brown, Ph.D., is an Assistant Professor of Genetics at the Perelman School of Medicine. His research focuses on the genetics of complex human traits such as Asperger syndrome. He has significant experience in the bioinformatic analysis of whole genome DNA sequence data for the identification of the mutations responsible for disease risk. His research has led to significant insights into the functional consequences of regulatory sequence variation in human disease. Over the last two years, he and Dr. Bucan have collaborated on an analysis of bipolar disorder in the Amish that has combined whole genome and transcriptome data along with deep phenotyping.

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Arupa Ganguly, M.S., Ph.D., FACMG

Arupa Ganguly, M.S., Ph.D., FACMG, is the Director of the Genetic Diagnostic Laboratory at the University of Pennsylvania. She obtained her Ph.D. in Biophysics from Calcutta University in 1977. Dr. Ganguly is a Professor of Genetics and is a molecular biologist with particular expertise in mutation analysis and adaptation of novel assays for mutation scanning and direct mutation detection. She is Board Certified in Clinical Molecular Genetics by the American Board of Medical Genetics. Prior to her appointment at the University of Pennsylvania, Dr. Ganguly was on the faculty of the Thomas Jefferson University School of Medicine. Dr. Ganguly directs the laboratory which is a reference laboratory in the US for genetic testing of Hemophilia A, Retinoblastoma, Li Fraumeni disease, Hereditary Hemorrhagic Telangiectasia (HHT or Osler Weber Rendu Syndrome), Beckwith-Wiedemann syndrome, Russell Silver syndrome, and Uveal melanoma. She supervises all diagnostic testing for these disease-related genes.

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Thomas A. Jongens, Ph.D.

Thomas A. Jongens, Ph.D., is an Associate Professor of Genetics at the Perelman School of Medicine. The Jongens lab studies Fragile X Syndrome and other ASD disorders using Drosophila and mouse genetic models. The overall goal of the Jongens’ lab is to develop relevant genetic models of autism related genes and use a multifaceted approach that includes genetics, behavioral and cognitive testing, molecular and pharmacological studies to identify potential treatments for each model. The Jongens lab is seeking ways to treat and reverse issues associated with autism, even in adults. He has over 30 years of experience using Drosophila as a model organism and has been using Drosophila to study autism for the last 15 years. His lab also uses mouse models of autism to validate findings from the Drosophila models, an important step for preclinical evaluation of potential treatments.

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Golnaz Vahedi, Ph.D.

Golnaz Vahedi, Ph.D., is an Assistant Professor of Genetics at the Perelman School of Medicine and joined the Department in May 2015. She received her B.Sc. degree in Electrical Engineering from Sharif University of Technology, Tehran, Iran in 2001 and her Ph.D. degree with Dr. Edward R. Dougherty in Electrical Engineering from Texas A&M University in 2009. She then joined the laboratory of Dr. John O’Shea at the NIH as a postdoctoral fellow to study the epigenomics aspects of T cells. Her research interest spans the areas of bioinformatics, machine learning, human genetics, chromatin biology, and immunology. She is the recipient of number of awards including the Alfred P. Sloan Fellowship, NIH Director Award, Philip Godfrey Memorial Lecture, and NIAID K22 Career Transition Award (perfect score). Since her arrival, she has collaborated with Dr. Zhou on the computational analysis of epigenomic alterations associated with mouse models recapitulating human genetic mutations found in Rett Syndrome.

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Zhaolan (Joe) Zhou, Ph.D.

Zhaolan (Joe) Zhou, Ph.D., is an Associate Professor of Genetics at the Perelman School of Medicine, and Director of the Preclinical Models Core at the Intellectual and Developmental Disabilities Research Center (IDDRC) at Children’s Hospital of Philadelphia. His research focuses on understanding the pathogenic basis of autism spectrum disorders with known genetic causes and the epigenetic basis of neuropsychiatric disorders with environmental insults. In the past few years, he has led a research team that developed the first lines of mouse models recapitulating human genetic mutations found in Rett Syndrome and CDKL5 disorder, and engineered genetically modified mice to interrogate stress-related neuroepigenetics in the brain.  Through a combined genetic, genomic, physiological, and behavioral approaches, the Zhou lab has revealed novel insights into the pathogenic mechanisms of Rett Syndrome and CDKL5 disorder, identified robust and quantitative biomarkers, and has been aiming to develop innovative strategies to treat autism spectrum and neuropsychiatric disorders.

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Michael Hart, Ph.D.

Michael Hart, Ph.D., has joined the ASPE team as a Research Associate to study and model neurexin in C. elegans. As a postdoc working with Oliver Hobert at Columbia University, Michael identified and characterized novel roles for neurexin and neuroligin in controlling a form of neuronal plasticity. Previously, Michael obtained his PhD in Neuroscience at the University of Pennsylvania working with Aaron Gitler on functional modeling of genetic variants associated with Amyotrophic Lateral Sclerosis. Michael will combine the experience from his PhD and postdoc to utilize C. elegans to study disease genes and variants associated with Asperger’s Syndrome and Autism Spectrum Disorders.

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