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.

Edward S. (Ted) Brodkin, M.D., Co-Director of ASPE, is Associate Professor of Psychiatry and is Founder 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 autism spectrum disorder (ASD), as well as in fundamental research on the genomics and neurobiology of social behavior development. He has also developed a novel cognitive-behavioral and mindfulness treatment program aimed at supporting social functioning in adults with ASD. Dr. Brodkin brings to ASPE expertise in human phenotypes of ASD, quantitative phenotypes for genomic studies, translational biology, and clinical trials.

Maja Bućan, 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 sibling pairs. Her current work includes family-based analysis of mental illness in a large multigenerational Old Order Amish pedigree. For many years, Dr. Bućan served on the Steering Committee for the Autism Genetics Research Exchange, the first large collection of ASD families. She is also a founding member of the Center for Autism Research at Penn and Children’s Hospital of Philadelphia.

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.

Marc Fuccillo, M.D., Ph.D., is an Associate Professor of Neuroscience at the Perelman School of Medicine. The Fuccillo lab studies neural circuits and synaptic adhesion molecules that are relevant for brain disease using mice as a model system. Marc obtained his PhD in Gord Fishell’s lab studying developmental control of cell diversity, and completed postdoctoral studies with Rob Malenka and Tom Südhof, studying the synaptic and behavioral functions of synapse-associated molecules such as Neurexin1. The Fuccillo lab uses in vitro and in vivo cellular electrophysiology, imaging and perturbation of neural activity, and quantitative behaviors to examine how dysfunction of neural signals within specific circuits impacts motor control and reinforcement learning. For ASPE, the Fuccillo lab is particularly interested in how autism-associated genetic disruptions alter synapse function and behavior.

Michael Gandal, M.D. Ph.D., is the William & Noreen Hetznecker Associate Professor of Psychiatry and a member of the Lifespan Brain Institute at Penn Med and the Children’s Hospital of Philadelphia (CHOP). He holds secondary appointments in Genetics at Penn and Pediatrics (Division of Human Genetics) at CHOP. He received his BS in Engineering (biomedical computation) from Stanford University and his MD/PhD in Bioengineering from the University of Pennsylvania, using electrophysiology to investigate neural circuit dysfunction in mouse models of schizophrenia and autism. He completed his residency training in Psychiatry at the UCLA-Semel Institute and a postdoctoral fellowship in Neurogenetics, characterizing the genetic contributions to shared gene expression alterations in human brain across several major psychiatric disorders. Dr. Gandal directs a developmental brain genomics research laboratory which seeks to translate the genetic underpinnings of neurodevelopmental and psychiatric disorders into concrete biological targets for therapeutic intervention and mechanistic understanding.

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.

Michael Granato, Ph.D., is a Professor of Developmental Biology at the Perelman School of Medicine. His research focuses on deciphering the molecular and neural circuit mechanism regulating nervous system plasticity. His research uses a unique combination of molecular genetics, behavioral assays, and live cell imaging to visualize neuronal activity at single cell resolution in the brain of behaving zebrafish. Through unbiased forward genetic screens and reverse genetic approaches his laboratory has identified dozens of genes that are required to mediate complex behaviors frequently disrupted in autism spectrum disorders including a simple form of learning and decision making. He has over 30 years of experience using zebrafish as a model organism and has pioneered behavioral genetics in zebrafish.

Michael Hart, Ph.D., is an Assistant Professor of Genetics at the Perelman School of Medicine. 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. 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 in C. elegans. The Hart lab studies neurexins and many other autism-associated genes that are conserved from humans to C. elegans. The goal of the lab is to understand how autism-associated genes can alter numerous behaviors by defining their molecular functions at specific synapses, neurons, and neuronal circuits. We are also comparing the functions and interactions of many of these genes across circuits and behaviors in parallel. These ongoing studies in C. elegans also provide a platform to test how variants found in the human genes impact their molecular function and ultimately behavior. For more information, visit www.mphartlab.com

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.

Erica Korb, PhD., is an Assistant Professor of Genetics at the Perelman School of Medicine and a member of the Epigenetics Institute. The Korb lab works at the intersection of neuroscience and epigenetics with the goal of understanding the role of the epigenome in learning, memory, and neurodevelopmental disorders. We focus on chromatin, the complex of DNA and histone proteins that wrap up DNA to control gene expression, and many of the chromatin regulators that are linked to Autism Spectrum Disorder. As part of ASPE, we are investigating how gene-gene and gene-environment interactions disrupt neuronal function to lead to changes in behavior. We use methods such as genome-wide sequencing, microscopy, biochemistry, neuronal cultures, and mouse models to better understand the role of the epigenome in the brain and how epigenetic disruptions can lead to Autism Spectrum Disorder.

Zhaolan (Joe) Zhou, Ph.D., is a 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.