Principal Investigators

Laura Almasy
Laura AlmasyPrincipal Investigator on Project 1

Laura Almasy, Ph.D., is a Professor of Genetics at the University of Pennsylvania and a member of the Department of Biomedical and Health Informatics at the Children’s Hospital of Philadelphia. Her research focuses on development and application of statistical genetic methods for the localization, identification, and characterization of genetic effects on human diseases and related quantitative risk factors. Dr. Almasy directs the Genetic Analysis Workshop (GAW), an international forum for development and testing of statistical genetic methods. On the applied side, she is involved in studies of autism spectrum disorders, schizophrenia, alcohol dependence, and related risk factors as well as studies of normal variation in brain structure and function. These include both family and population cohort studies. Particular areas of interest include gene-environment interaction and pleiotropy.

Therese van Amelsvoort
Therese van AmelsvoortPrincipal Investigator on Project 2

Therese van Amelsvoort MD, PhD is a professor in Transitional Psychiatry at Maastricht University, Maastricht, The Netherlands. She trained as a psychiatrist at The Maudsley Hospital / Institute of Psychiatry in London, UK (1994-2001) and has had a longstanding interest in neurobiological mechanisms underlying psychosis and neurodevelopmental disorders, with a special interest in 22q11DS which she has been studying since 1997 and on which she obtained her PhD in 2004 at the University of Amsterdam. Since 2012 she is working at The Department of Psychiatry & Neuropsychology at Maastricht University which has specific expertise in experience sampling methodology and gene-environment interactions. Professor van Amelsvoort has been leading the Dutch Adult 22q11DS clinic for almost 20 years, although she has broadened her scope to other CNVs and intellectual disabilities over recent years.

Anne Bassett
Anne BassettPrincipal Investigator on Project 2

Dr. Bassett holds the Dalglish Chair in 22q11.2 Deletion Syndrome (22q11.2DS) and a Full Professor at the University of Toronto. She is Director of the Dalglish Family 22q Clinic at the Toronto General Hospital, and a Senior Scientist at the Toronto General Hospital Research Institute, and at the Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, where she directs the Clinical Genetics Research Program. Dr. Bassett is the author of over 200 publications, and has had consistent funding for her research program from CIHR, NIMH and other agencies.

Dr. Bassett is an internationally renowned expert in 22q11.2DS and other disorders associated with major structural changes (copy number variation) in the human genome, and in the genetics of complex developmental disorders, especially schizophrenia and congenital cardiac disease. Her work shows how translating relevant genetic findings into the clinic can help patients and their families, leading e.g., to the development of international clinical practice guidelines for children and adults with 22q11.2DS.

Carrie E. Bearden
Carrie E. BeardenPrincipal Investigator on Project 2

Professor, Departments of Psychiatry and Biobehavioral Sciences and Psychology, Semel Institute for Neuroscience and Human Behavior Brain Research Institute

Integrative Center for Neurobehavioral Genetics

Center for Autism Research and Treatment (CART)

Director, Center for the Assessment and Prevention of Prodromal States (CAPPS)

Dr. Bearden’s research aims to understand genetic and neurobiological risk factors for ztthe development of early-onset neuropsychiatric disorders. Her work examines these questions through two complementary lines of research:

1) The investigation of early biomarkers that predict disease risk and trajectory in at-risk populations; and

2) Translational approaches to understanding disrupted brain circuitry in highly penetrant genetic subtypes (e.g, 22q11.2 microdeletions)

Read more about her research lab here.

Marianne van den Bree
Marianne van den BreePrincipal Investigator on Project 2

Marianne van den Bree is a Professor within the Medical Research Council Centre for Neuropsychiatric Genetics and Genomics at Cardiff University in Wales, UK. She obtained a BSc in Psychology and a MSc in Experimental Psychology from the Vrije Universiteit in Amsterdam, The Netherlands and a PhD in Human Genetics from the School of Medicine at Virginia Commonwealth University in Richmond, VA, USA. At Cardiff University, she has initiated and leads a large programme of individuals with rare chromosomal Copy Number Variants (CNVs) associated with high risk of cognitive impairment and neurodevelopmental and psychiatric disorder. This programme involves detailed and longitudinal assessments of children, adolescents and adults with CNV and their family members, as well as genetic, neuro-imaging and therapeutic research and studies aiming to improve medical and other support for families affected by CNV.

John N. Constantino
John N. ConstantinoPrincipal Investigator on Project 3

John N. Constantino, MD, is the Blanche F. Ittleson Professor of Psychiatry and Pediatrics at Washington University in St. Louis, where he directs the William Greenleaf Eliot Division of Child Psychiatry, directs an NICHD  Intellectual  and  Developmental Disabilities  Research Center, and serves as Psychiatrist-In-Chief of St. Louis Children’s Hospital. He completed a triple board residency (Pediatrics, Psychiatry, and Child Psychiatry) at Bronx Municipal Hospital in New York and the Albert Einstein College of Medicine. His work has focused on understanding genetic and environmental influences on disorders of social development in childhood, and their implications for preventive intervention. He and his scientific team have pioneered quantitative methods for elucidating putative behavioral and neurodevelopmental endophenotypes that predict autism recurrence in families, and methods developed here for rapid behavioral phenotyping are used internationally in genetic research involving autism and related disorders. 

Kristy Donald
Kristy DonaldPrincipal Investigator on Project 4

Kirsty Donald is a Professor in Developmental Paediatrics and Neurology with focus on brain health and development in resource-limited settings. She have a permanent faculty appointment in the Division of Developmental Paediatrics at the Red Cross War Memorial Children’s Hospital in Cape Town, South Africa and is Deputy Director of the University of Cape Town, Neuroscience Institute. Academically, much of her research has focused on the complications arising from prenatal substance exposure, infectious disease and other conditions of poverty. These areas of research contribute directly to the preventable causes of developmental and intellectual disability worldwide. Exploring the complex relationships between interacting risk factors across the lifespan remains critical in facilitating effective strategies for early but also sustained intervention during key windows of vulnerability. In particular, her recent research has focused on using genetics, developmental assessments and multiple imaging methods, including structural, functional and diffusion imaging, to facilitate a deeper understanding of the pathophysiological mechanisms for the impact of HIV-exposure, substance exposure and maternal violence exposure on the developing brain. She currently holds multiyear grants as PI from the NIH investigating the longitudinal brain imaging trajectories of infants exposed to alcohol during the prenatal period as well as to investigate genetic characterization of neuro-developmental disorders in South African populations.. Through this work she has collaborated widely both within the African region as well as with institutions and individuals in the global North, She is also a member of the policy team for the SA National Department of Health where she is involved in addressing developmental disability screening and intervention, and is on the UNICEF expert panel for global standard setting in child development.

Rachel Earl
Rachel EarlPrincipal Investigator on Project 3

Acting Assistant Professor, Department of Psychiatry and Behavioral Sciences, University of Washington

Rachel Earl is a child clinical psychologist who specializes in neurodevelopmental disorders, specifically the neuropsychological and genetic correlates of autism spectrum disorder. Dr. Earl completed her doctorate at the University of Washington, residency at University of North Carolina Chapel Hill, and postdoctoral fellowship at Seattle Children’s Hospital Autism Center. She has specialized expertise in phenotypic characterization of individuals with intellectual and developmental disabilities and rare genetic mutations. Dr. Earl is passionate about fostering research engagement for families of individuals with developmental disabilities, thereby building close family-research partnerships and connecting families with personalized community and resource supports.

Brenda Finucane
Brenda FinucanePrincipal Investigator on Project 3

Brenda Finucane, MS, CGC, is a professor and licensed genetic counselor at Geisinger Autism & Developmental Medicine Institute. She has particular expertise in fragile X, Smith-Magenis, duplication 15q, and other genetic syndromes that present with complex cognitive and neuropsychiatric symptoms. Her experience with these populations includes young children through adults, with a specific interest in the natural history of behavioral phenotypes over the lifespan. A current area of inquiry at Geisinger is the study of family genetic background on phenotypic expression in individuals with copy number variants and single gene disorders. Ms. Finucane has been in leadership roles in professional and advocacy organizations throughout her career and is a past president of the National Society of Genetic Counselors.

David Glahn
David GlahnPrincipal Investigator on Project 1

Dr. David Glahn, PhD, is a Professor of Psychiatry at Harvard Medical School. He is the Associate Chief for Research in the Department of Psychiatry at Boston Children’s Hospital and the Director of the Tommy Fuss Center for Neuropsychiatric Disease Research. In addition, he directs the Early Psychosis Investigation Center (EPICenter) and the Neuropsychiatric Genetics Program (NPG). Dr. Glahn received his PhD in Clinical Psychology from the University of Pennsylvania and a post-doctoral fellowship the University of California at Los Angeles. Glahn has served as Co-Director for the Division of Neurocognition, Neurocomputation, and Neurogenetics at the Yale University School of Medicine, prior to joining Boston Children’s Hospital and Harvard Medical School.

The overarching goal of Dr. David Glahn’s research is to discover genes and environmental mechanisms that predispose affective and psychotic disorders in children and adults. To achieve this goal, he develops and applies neuroanatomic, functional neuroimaging, and neurocognitive endophenotypes in large-scale family-based studies. Dr. Glahn’s research program involves four broad scientific aims: 1) To identify and characterize genes and environmental factors influencing risk for psychotic and affective disorders and their endophenotypes; 2) To specify genetic and environmental influences on normal variation of brain structure/function and cognitive ability; 3) To isolate genetic and environmental factors involved in human cognitive and brain development, particularly during adolescence; and 4) To develop novel endophenotypes for psychotic and affective disorders and markers of cognitive and brain development.

Given that psychiatric and cognitive/imaging antecedents of psychosis or affective dysregulation appear in childhood and adolescence, typically years before the formal onset of the illness, a major component of his research focuses on genetic and environmental aspects of individual differences across development. Dr. Glahn believes that recognizing antecedents of psychosis in young children could open a window of opportunity for targeted interventions to forestall disturbing symptoms and mitigate the risk of full-blown disease.

Raquel E. Gur
Raquel E. GurPrincipal Investigator on Project 2

Raquel E. Gur, M.D., Ph.D. is the Karl and Linda Rickels Professor of Psychiatry, and Director of the Lifespan Brain Institute at the University of Pennsylvania Perelman School of Medicine and the Children’s Hospital of Philadelphia (CHOP). She holds secondary professorial appointments in the Departments of Neurology and Radiology.

Her combined training in Psychology, Neurology and Psychiatry has provided the tools to pursue an academic career working with basic and clinical neuroscientists to advance the understanding of psychosis. In directing these research endeavors, she has worked with scientists of diverse backgrounds, conducted collaborative interdisciplinary research, mentored junior faculty and trainees at all academic levels, and has come to know many patients and their families. The collaboration with Donna M. McDonald-McGinn, MS, LCGC at CHOP in the study of brain and behavior in individuals with the 22q11.2 deletion syndrome has been a major focus in advancing the understanding of complex neuropsychiatric disorders.

Dr. Gur is a member and has served in organizations including the Institute of Medicine of the National Academy of Sciences, the NIMH Council and the American Psychiatric Association task forces including the DSM-5 Psychosis work group. She is Past President of the Society of Biological Psychiatry and the American College of Neuropsychopharmacology. NIMH has supported her research efforts and she has over 550 publications in peer-reviewed journals.

Sébastien Jacquemont
Sébastien Jacquemont Principal Investigator on Projects 1 & 2

Sébastien Jacquemont is an associate professor at the University of Montreal and a clinical geneticist at the CHU St Justine Pediatric Hospital. His research tackles the widening gap between the tidal wave of gene discovery and our poor understanding of the effects of rare variants on neurodevelopmental and psychiatric traits. His group established cohorts of individuals who carried specific risk factors for psychiatric conditions such as the 16p11.2 European consortium. This showed that gene dosage at the 16p11.2 locus modulates cognition, behavior, brain structure and connectivity. The group has extended these investigations to rare recurrent and non-recurrent CNVs and SNVs genome-wide. Genetic scores and functional annotations at the microscale (e.g., gene expression in cell types) and macro-scale levels (e.g., spatial patterns of gene expression in the brain) are used to understand the effect of genomic variants on cognitive, behavioral, and neuroimaging traits. This framework enables the investigation of undocumented genomic variants too rare to be studied individually.

His group has also worked on large drug development programs and clinical trials in fragile X syndrome, a genetic condition associated with autism and intellectual disability.

David H. Ledbetter
David H. LedbetterPrincipal Investigator on Project 3

David H. Ledbetter, Ph.D., FACMG

Executive Vice President & Chief Scientific Officer

Geisinger

Dr. Ledbetter is executive vice president and chief scientific officer at Geisinger. Previously he held academic and leadership positions at Emory University, the University of Chicago, and the National Center for Human Genome Research at NIH. He is a graduate of Tulane University and earned his Ph.D. at the University of Texas-Austin. He is an internationally recognized expert in Genomics and Precision Health, having focused his research efforts on discovering the genetic causes of childhood and adult neurodevelopmental disorders such as autism and schizophrenia, and the translation of new genomics technologies into clinically useful genetic tests for early diagnosis and intervention. His current research interest includes leveraging longitudinal electronic health information with large-scale DNA sequencing to determine the clinical utility and cost-effectiveness of precision health approaches in a real-world health system setting.

Christa Lese Martin
Christa Lese MartinPrincipal Investigator on Project 3

Dr. Christa Lese Martin, PhD, FACMG, is the Associate Chief Scientific Officer at Geisinger (Danville, PA) and a Professor and the founding Director of their Autism & Developmental Medicine Institute. She is Board-certified by the American Board of Medical Genetics and Genomics (ABMGG) in Clinical Cytogenetics. Her research focuses on using a “genetics-first” approach to characterize neurodevelopmental and neuropsychiatric disorders, including autism, intellectual disability, bipolar disorder, and schizophrenia, with an ultimate goal of developing precision health-driven treatments to improve patient outcomes. She also focuses on evidence-based curation approaches for defining gene/disease clinical validity and the clinical interpretation of genomic variants. Dr. Martin is one of the Principal Investigators of the NIH-funded Clinical Genome Resource (ClinGen) and serves as a Co-Chair of the American College of Medical Genetics and Genomics (ACMG) Secondary Findings Working Group. At Geisinger, she is part of the leadership team for the MyCode Community Health Initiative – a groundbreaking precision health program bringing genomic medicine into everyday healthcare. Dr. Martin received her Bachelor of Science degree from Penn State University and completed her PhD in Human Genetics at the University of Pittsburgh. She did her postdoctoral training at the University of Chicago in the Department of Human Genetics where she remained on faculty as an Assistant Professor and Director of the Clinical Cytogenetics Laboratory. Before joining Geisinger, Dr. Martin was an Associate Professor in the Department of Human Genetics at Emory University and Operations Director of Emory Genetics Laboratory.

Donna M. McDonald-McGinn
Donna M. McDonald-McGinnPrincipal Investigator on Project 2

Donna M. McDonald-McGinn, MS, LCGC, is Clinical Professor of Pediatrics at the Perelman School of Medicine of the University of Pennsylvania where she is Chief of the Section of Genetic Counseling, Associate Director of the Clinical Genetics Center, and Director of the 22q and You Center, a global leader in multidisciplinary clinical care and research initiatives aiding children, adolescents, and families affected by chromosome 22q11.2 differences, at the Children’s Hospital of Philadelphia (CHOP). Her training in Genetic Counseling has provided the necessary tools to pursue an academic career collaborating with patients, families, basic scientists and clinical investigators to advance the understanding of heritable conditions. In directing these research endeavors, she has mobilized clinicians and scholars of diverse backgrounds, conducted interdisciplinary studies, mentored junior investigators and students, and worked closely with patients and their families. As such, she serves as Chair of the 22q11.2 Society, founding board member of the International 22q11.2 Foundation, and executive committee member of the International 22q11.2 Brain and Behavior Consortium, a network of 22 clinical and 5 genomic sites employing whole genome sequencing to examine behavioral phenotypes in individuals with 22q11.2 deletion syndrome. Her work has been supported by NIH and she has over 300 publications in peer-reviewed journals. She and her CHOP team work closely with Raquel Gur, MD, PhD, and the Neuropsychiatry and 22q11.2 Transition to Adulthood Programs at the Hospital of the University of Pennsylvania.

Anne O'Donnell-Luria
Anne O'Donnell-LuriaPrincipal Investigator on Project 4

Anne O’Donnell-Luria is a group leader in the Division of Genetics and Genomics at Boston Children’s Hospital, Harvard Medical School and an Associate Member of the Broad Institute of MIT and Harvard. She is also an affiliated faculty member with the Analytic and Translational Genetics Unit at Massachusetts General Hospital.

O’Donnell-Luria’s research focuses on using large-scale genomic and complementary transcriptomic and epigenomic approaches to increase the rate of rare disease diagnosis through improving rare variant interpretation, empowering the discovery of novel disease genes, and understanding the mechanisms of incomplete penetrance. She also co-leads the Broad Center for Mendelian Genomics and the Rare Genomes Project focused on discovering novel disease genes and variants, and is a practicing clinician, directing the EpiChroma Clinic at BCH.

O’Donnell-Luria completed her M.D./Ph.D. training at Columbia University Medical Center followed by the Five-Year Boston Children’s Hospital and Harvard Medical School Combined Pediatrics-Genetics Residency Program and an additional year of clinical training in medical biochemical genetics. She completed her postdoctoral training the laboratory of Daniel MacArthur at the Broad Institute and MGH.

Professor Sir Michael Owen
Professor Sir Michael OwenPrincipal Investigator on Project 2

Mike Owen is an academic psychiatrist. He is Professor of Psychological Medicine in the Division of Psychological Medicine and Clinical Neurosciences, and the Medical Research Council’s Centre for Neuropsychiatric Genetics and Genomics, in Cardiff University. He has researched the genetics and genomics of a variety of psychiatric disorders since 1987 and has made notable contributions to the study of schizophrenia and Alzheimer disease. He led the first study, published in 1999, demonstrating the increased prevalence of schizophrenia in individuals with 22q11DS and has researched the psychiatric and cognitive sequelae of CNVs over many years. As well as continuing his work on psychiatric genetics, he is undertaking research aimed at translating recent genetic findings into a greater understanding of disease mechanisms using a variety of neuroscience and epidemiological approaches.

Elise Robinson
Elise RobinsonPrincipal Investigator on Project 4

Elise Robinson is an assistant professor of epidemiology at the Harvard T.H. Chan School of Public Health and an institute member of the Broad Institute of MIT and Harvard. She is also an affiliated faculty member with the Analytic and Translational Genetics Unit at Massachusetts General Hospital.

Robinson’s research focuses on the genetic epidemiology of behavior and cognition. She is interested in using genetic data to understand the biology of neurodevelopmental variation, and to study differences within and between neuropsychiatric disorders.

The Robinson lab uses techniques from statistical genetics and epidemiology to study how common and rare genetic risk factors for severe neuropsychiatric disorders may differ, and develops approaches for examining these questions in large samples.

Robinson received a Sc.D. in psychiatric epidemiology from the Harvard School of Public Health, supervised by Karestan Koenen. She completed postdoctoral training in the lab of Mark Daly at MGH and the Broad Institute, using statistical genetic approaches to study neurodevelopmental disorders.

Stephen Scherer
Stephen SchererPrincipal Investigator on Project 2
Prof. Stephen Scherer, Hospital for Sick Children and University of Toronto

Dr. Scherer holds the GlaxoSmithKline-Canadian Institutes of Health Research Endowed Chair in Genome Sciences at The Hospital for Sick Children (SickKids) and University of Toronto (U of T) and he is Director of the U of T McLaughlin Centre, as well as The Centre for Applied Genomics at SickKids. His team contributed to the landmark discovery of global gene copy number variation (CNV) as a common form of genetic variation in human DNA. His group then identified CNV to contribute to the aetiology of autism and many other disorders, and the Database of Genomic Variants he founded facilitates hundreds of thousands of clinical diagnoses each year. Dr. Scherer has won numerous honors such as the Steacie Prize, a Howard Hughes Medical Institute Scholarship, the Killam Prize, and three Honorary degrees. He is a Fellow of CIFAR, the American Association for the Advancement of Science, and the Royal Society of Canada. In 2014, he was selected as a Thomson Reuters Citation Laureate in Physiology and Medicine for “the discovery of large-scale copy number variation and its association with specific diseases”.

Jonathan Sebat
Jonathan SebatPrincipal Investigator on Project 2

Professor of Psychiatry, Cellular & Molecular Medicine, and Pediatrics Institute for Genomics Medicine University of California, San Diego Director, Beyster Center for Psychiatric Genomics

Dr. Jonathan Sebat is a leader in the field of psychiatric genetics and an expert in the genomic analysis of disease by Whole Genome Sequencing (WGS). His research has made substantial contributions to our current knowledge of the contribution of rare and de novo genetic variants to risk for psychiatric disorders. His early research on patterns of structural genetic variation (SV) in the human genome led the initial discovery of the widespread abundance of SV in the human genome. Application of SV detection methods to psychiatric disorders, including autism spectrum disorders and schizophrenia has served to elucidate the role of rare SVs in these disorders. Recent genome sequencing studies in multiple cohorts including the Simons Simplex Collection have made significant progress in further elucidating the genetic basis of ASD, in particular the contribution of inherited SVs in non-coding regions of the genome. Jonathan Sebat is the Director of the Beyster, Center for Psychiatric Genomics, where he leads an interdisciplinary team in the clinical and genomic analysis of patient cohorts at UCSD and Rady Children’s Hospital. In addition, he has led multiple, large consortium efforts including as chair of the CNV analysis group for the Psychiatric Genomics Consortium, as co-chair of the genotyping working group of the Genes 2 Mental Health Network (G2MH) where his group has led interdisciplinary teams on the analysis of genomic and clinical datasets on large cohorts.

Ann Swillen
Ann SwillenPrincipal Investigator on Project 2

Ann Swillen, PhD is Professor at the Department of Human Genetics, KU Leuven and at the Department of Rehabilitation Sciences, KU Leuven (University of Leuven, Belgium). She is head of the Lab for Behaviour and Neurodevelopment. Trained as an clinical educational psychologist, she is also affiliated to the University Hospital Gasthuisberg/Centre for Human Genetics, an international centre of excellence in the field of clinical and molecular genetics. Her group has more than 25 years of experience and expertise in clinical follow-up and research of neurodevelopmental disorders such as intellectual disability (ID), developmental delay (DD) and autism spectrum disorders (ASD) in children, adolescents and adults with pathogenic Copy Number Variants (CNVs) such as microdeletions and duplications (22q11.2 deletions and duplications, 16p deletions and duplications, 22q13 deletions, etc.) resulting in more than 100 scientific papers on NDD’s and behaviors in CNVs. Through a multifaceted collaborative approach with many disciplines, we aim for four goals: (a) Deep phenotyping of persons with CNV’s with focus on development and behavior to better delineate and understand the developmental phenotype; (b) Identify mechanisms of ID/cognitive impairment and increased psychiatric risk; (c) Using specific neuro-genetic conditions (CNV’s) as homogeneous genetic models to better understand the interaction among genetic, behavioral and environmental factors in developmental disorders; (d) To develop psychoeducational tools, to refine interventional (psycho-social) strategies and to improve the life of affected children and their families. Click here for more information on the Swillen lab.

Jacob Vorstman
Jacob VorstmanPrincipal Investigator on Project 2

Jacob Vorstman MD, PhD is associate professor psychiatry at The Hospital for Sick Children and the University of Toronto, in Toronto, Canada. He is originally from the Netherlands and was trained in both child and adolescent psychiatry (clinic and research) and molecular genetics (research).

Initially, his research focused on the psychiatric and genetic aspects of the 22q11.2 deletion. After obtaining his PhD in 2008, he broadened the scope from 22q11DS to the study of genotype-phenotype relations in neurodevelopmental disorders, in particular autism, intellectual disability and schizophrenia. In September 2017 he moved to Toronto where he, together with his team at the Autism Research Unit, initiated a multidisciplinary clinic called DAGSY (Developmental Assessment of Genetically Susceptible Youth), designated for children with genetic risk variants associated with a psychiatric or neurodevelopmental outcomes.

Nigel Williams
Nigel WilliamsPrincipal Investigator on Project 2

Nigel Williams is currently a Professor in Molecular Genetics at the Division of Psychological Medicine & Clinical Neurosciences, Cardiff University. His research interests focus on understanding the role that both common and rare genetic variants have in common neuropsychiatric and neurological disorders. This involves using polygenic risk scores, rare copy number variants and QTLs to investigate Parkinson’s disease, Schizophrenia, ADHD and 22q11.2 deletion syndrome. At Cardiff University he leads the research and computing facilities at the DPMCN, which has resulted in him gaining a strong appreciation of the HPC requirements for genomic research. He also leads the genetics and biobanking facilities of the UK wide Tracking Parkinson’s project for which he is also a member of the executive committee. Finally, he is an active member of the International Parkinson’s Disease Genetics Consortium (IPDGC), the Global Parkinson’s Genetics Program (GP2), the International 22q11.2 Brain Behaviour Consortium (22q-IBBC) and the NIMH Rare Genetic Disease Network.

Co-Investigators

Samuel Chawner
Samuel ChawnerCo-Investigator on Project 2

Samuel Chawner is a Research Fellow within the Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, and the Centre for Human Developmental Science at Cardiff University in Wales, UK. He obtained a first class BA honours in Natural Sciences at Girton College, University of Cambridge, and a PhD in Psychiatric Genetics from Cardiff University. His PhD research focused on the longitudinal development of psychotic phenomena in adolescents with 22q11.2 deletion syndrome. After his PhD, his work expanded to investigating genotype and phenotype relationships across a range of neurodevelopmental risk genomic conditions. He contributes to a range of national and international research programmes of individuals with rare chromosomal Copy Number Variants (CNVs) associated with neuropsychiatric risk. Public and stakeholder engagement is a key part of his research and he has worked with the media, charities, artists, clinicians and policymakers to raise awareness of research into genomic conditions.

Dustin Baldridge
Dustin BaldridgeCo-Investigator on Project 3

Dustin Baldridge, MD, PhD, is a board-certified pediatrician conducting full-time translational genomics research at Washington University in St. Louis, where he is an Instructor in the Division of Genetics and Genomic Medicine. Dr. Baldridge is committed to helping children with underlying genetic disorders receive a molecular diagnosis. He completed his combined MD/PhD training at Baylor College of Medicine, postgraduate training in Pediatrics at Washington University School of Medicine, and one year of service as a Chief Resident at St. Louis Children’s Hospital. As a successfully funded NHGRI K08 awardee focused in the areas of genomic medicine and functional genomics, he is leading a team that is solving a fundamental problem in human genetics, namely the overwhelming number of Variants of Uncertain Significance (VUS) generated via exome and genome sequencing. He also serves as a co-investigator for the Washington University Model Organism Screening Center (wuMOSC) of the Undiagnosed Diseases Network (UDN), where his responsibilities include assessing candidate gene variants from a human genetics perspective and assisting in the identification of the most appropriate model organism (worm, fly, or fish) in which to model the variant.

Evan Eichler
Evan EichlerCo-Investigator on Project 3

Evan Eichler, Ph.D., is a Professor and Howard Hughes Medical Institute Investigator in the Department of Genome Sciences, University of Washington School of Medicine. He graduated with a B.Sc. Honours degree in Biology from the University of Saskatchewan, Canada, in 1990. He received his Ph.D. in 1995 from the Department of Molecular and Human Genetics at Baylor College of Medicine, Houston, Texas. After a Hollaender postdoctoral fellowship at Lawrence Livermore National Laboratory, he joined the faculty of Case Western Reserve University in 1997 and later the University of Washington in 2004. He was a March of Dimes Basil O’Connor Scholar (1998–2001), appointed as an HHMI Investigator (2005), awarded an AAAS Fellowship (2006) and the American Society of Human Genetics Curt Stern Award (2008), and elected to the National Academy of Sciences (2012) and the National Academy of Medicine (2017). He is an editor of Genome Research and has served on various scientific advisory boards for both NIH and NSF. His research group provided the first genome-wide view of segmental duplications within human and other primate genomes and he is a leader in an effort to identify and sequence normal and disease-causing structural variation in the human genome. The long-term goal of his research is to understand the evolution and mechanisms of recent gene duplication and its relationship to copy number variation and human disease with a specific emphasis on the genetic architecture of autism and neurodevelopmental delay.

Bev Emanuel
Bev EmanuelCo-Investigator on Project 2
Jessica Hall
Jessica HallCo-Investigator on Project 2

Jessica Hall is a postdoctoral research fellow at the Medical Research Council Centre for Neuropsychiatric Genetics and Genomics at Cardiff University in Wales, UK. She obtained a first-class BSc. honours in Neuroscience from Cardiff University School of Biosciences and a postgraduate diploma in Psychology. She undertook her PhD in the School of Psychology at Cardiff University, where her research focused on dissociating properties of recognition memory in a mouse model of Down’s Syndrome. After her PhD, she worked on research projects at the National Centre for Mental Health, and Gwent Police force, before joining Marianne van den Bree’s group in Cardiff. There, her work aims to contribute to understanding genotype-phenotype relationships in neuropsychiatric disorders.

Peter Holmans
Peter HolmansCo-Investigator on Project 2

Peter Holmans is head of the Biostatistics and Bioinformatics Unit at the MRC Centre for Neuropsychiatric Genetics and Genomics at Cardiff University. Prof. Holmans has over 25 years’ experience in the statistical analysis of complex genetic traits, both in data analysis and developing novel genetic methodology, and has led the statistical analysis of large multicentre collaborations in schizophrenia and Alzheimer’s disease. He has a particular interest in the use of pathway analysis to infer disease relevant biology from genomic data of multiple types including CNVs, and has developed novel methodology to perform such analyses. Prof. Holmans is currently interested in determining genetic modifiers of phenotypic variation in neurodegenerative disorders, notably Huntington’s disease.

Marieke Klein
Marieke KleinCo-Investigator on Project 2

Marieke Klein is postdoctoral research fellow at the Department of Psychiatry at the University of California San Diego (UCSD). She obtained a BSc and MSc in Medical Biology and completed her graduate training at the Radboud University of Nijmegen, The Netherlands. Her PhD research focused on the genetic causes of ADHD and the underlying neurobiology of this disorder. After her PhD, she obtained a Rubicon Award of the Netherlands Organization for Scientific Research and moved to the US in early 2020 to join the group of Prof. Jonathan Sebat at UCSD. There, her research aims to contribute to the integration of information from rare and common genetic variation within and across psychiatric disorders.

David Linden
David LindenCo-Investigator on Project 2

Professor David Linden is an academic psychiatrist at Maastricht University Medical Centre and Scientific Director of the School for Mental Health and Neuroscience. He was previously Professor of Translational Neuroscience at Cardiff University and maintains close collaborations in CNV research with the Cardiff group. His main research interests are in clinical phenotyping of patients with CNV-related syndromes and mechanistic research using neuroimaging and combination with animal and cellular models. He is also active in the development of clinical services for patients with a variety of CNV syndromes and disorders.

Scott Myers
Scott MyersCo-Investigator on Project 3

Scott M. Myers, MD, FAAP, is a neurodevelopmental pediatrician and Associate Professor of Pediatrics at the Geisinger Autism & Developmental Medicine Institute and Geisinger Commonwealth School of Medicine. He is board-certified in Neurodevelopmental Disabilities, Developmental-Behavioral Pediatrics, and General Pediatrics by the American Board of Pediatrics. His research focuses on advancing understanding of the contributions of genomic, stochastic developmental, and environmental variation to typical and atypical development and, ultimately, improving outcomes for individuals with neurodevelopmental disorders. As part of the Ledbetter/Martin Lab at Geisinger, his genomic research has focused on “genotype first” and “phenotype first” approaches to the study of rare variants of large effect size, including copy number variants and sequence variants, and how phenotypic expression of the variants is impacted by background polygenic risk and other factors. A related research focus involves investigation of the epidemiology, natural history, and phenotypic characterization of neurodevelopmental disorders (including cognitive, behavioral, imaging, and neurophysiologic phenotypes and analysis of electronic health record data). Dr. Myers is a graduate of Penn State University and Jefferson Medical College who completed residency training in Pediatrics at Geisinger and fellowship training in Neurodevelopmental Disabilities at the Kennedy Krieger Institute and Johns Hopkins School of Medicine.

Olivia Rennie
Olivia RennieCo-Investigator on Project 2

Olivia Rennie is an Assistant Research Technologist at The Hospital for Sick Children. She is currently completing her education at the University of Toronto. As a research technologist, Olivia is involved in a number of projects aimed at better understanding the role of genetics in neurodevelopmental disorders, including research in autism, and 16p11.2 and 22q11.2 deletion/duplication syndromes. Olivia engages with patients in a variety of ways inside and outside the hospital, including in Child Life roles beyond research, and as a crisis counsellor on a distress line.

Cora Taylor
Cora TaylorCo-Investigator on Project 3

Cora Taylor is an assistant professor and clinical psychologist at Geisinger Autism & Developmental Medicine. Prior to coming to Geisinger, Dr. Taylor completed her graduate training at the University of Tennessee, and a research and clinical postdoctoral fellowship at Vanderbilt University. She has expertise in the diagnostic evaluation of children with a range of developmental concerns. At Geisinger, Dr. Taylor conducts research, and leads the phenotypic battery selection and administration on a variety of current research protocols at Geisinger, with a focus on the phenotypic characterization of individuals with rare genetic conditions. Dr. Taylor has experience in engaging families and family-based organizations for rare genetic conditions in research through online participation that is offered internationally to interested patients and families.

Laura Elaine H. Zackai, MD
Laura Elaine H. Zackai, MDCo-Investigator on Project 2