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Research at Mass General
Psychiatric and neurodevelopmental disorders are common, costly, and often disabling conditions that affect individuals throughout their lives. Disability associated with neuropsychiatric disorders exceeds that of other medical illnesses, and psychiatric disorders are also associated with premature mortality. Familial and genetic factors are the most-substantiated risk factors for a broad range of neuropsychiatric disorders. Identifying and characterizing the genetic basis of these disorders offers hope for improving treatment and prevention strategies.
Much of the work of the Psychiatric & Neurodevelopmental Genetics Unit (PNGU) is carried out in our Core Lab. The Core Lab provides custom genotyping, along with DNA extraction, quantification, sample preparation, tracking and storage and related services to further the PNGU's mission.
Visit the Core Lab site to learn more about the services we offer and the work we conduct.
PNGU facultyMeet the members of the Psychiatric & Neurodevelopmental Genetics Unit
NewsRead the latest news from PNGU, including publications and awards
Employment opportunitiesFind postings for open positions within PNGU
SoftwareDownload our proprietary program for heritability analysis
Director of the Psychiatric & Neurodevelopmental Genetics Unit
Assistant to Dr. Smoller
Simches Research Building185 Cambridge StreetBoston, MA 02114
Phone: 617-724-9076 Fax: 617-726-0830Email: firstname.lastname@example.org
The Psychiatric & Neurodevelopmental Genetics Unit is currently running a number of different studies. Contact us to learn about our research.
Understanding the Connections among Genes, Environment, Family Processes and Mental Health (The Nepal Study)This study, conducted in collaboration with the University of Michigan, aims to identify key predictors of psychiatric disorders in a large population-based sample of South Asian families and communities. This collaboration is part of an existing 20-year study comprised of 10,000 individuals from 2,700 households in various sub-population groups in Nepal. Through genome-wide genotyping and analyses, the role of polygenic risk scores (PRS) and genetic modifiers of environmental risk and resilience factors will be examined.
Longitudinal Histories as Predictors of Future Suicide Attempts (FUSS)Through generous funding by The Fuss Family, in support of The Tommy Fuss Fund, this study aims to determine whether longitudinal data in electronic medical records can be used to predict future risk for suicide. A primary goal of this study has been to develop a medical informatics algorithm to be used as a decision support tool for clinicians. In order to adapt and validate this prediction tool, it is being tested using six diverse, independent, de-identified datasets within the Scalable Collaborative Infrastructure for a Learning Healthcare System (SCILHS) network.
Neural and Genetic Basis of Negative Valence Traits (rDOC)This study aims to characterize the neural and genetic basis of anxiety, focusing on a phenotype previously implicated in anxiety proneness involving the amygdala and medial pre-frontal cortex. This study builds on the Mass General Brain Genomic Superstruct Project, studying the effects of genes and genetic variation in brain structure and function.
International Cohort Collection for Bipolar Disorder (ICCBD)The major goals of this project are to collect a large cohort of bipolar disorder cases and unaffected controls and construct a harmonized data source for genome-wide studies. The cohort will combine phenotypic data from the U.S. case-control sample with a parallel, separately funded European case-control sample.
The Development and Neural Bases of Emotion Processing (NBE)This study, conducted in collaboration with Boston Children’s Hospital, aims to examine the brain systems that underlie recognizing emotion from facial expressions and other types of social cues among infants between 5 to 36 months old. The study hypothesizes that the functional maturation of amygdalocortical connections within the brain might account for the change in behavioral responses to fearful facial expressions.
Brain Genomics: The Neural and Genetic Architecture of Mental Illness (Morphometricity)This study aims to develop a novel tool for prediction and prevention of psychiatric illness by estimating the proportion of observable variations in a trait that can be explained by brain morphology. Data collected as part of this study will be combined with existing data from the Mass General Scholars protocol to estimate the similarity between brain structure signatures, known as "cross disorder morphometricity."
Gene Regulation and Linkage Analysis in Bipolar Disorder and Schizophrenia This study, conducted in collaboration with researchers at McLean Hospital, aims to identify genes associated with mood, anxiety and psychotic disorders through genetic association analyses.
An international collaboration, including 60 investigators across 11 countries and co-led by PNGU and CGM Faculty member Jeremiah Scharf, MD PhD, discovered two genes harboring rare, recurrent mutations that markedly increase risk for Tourette Syndrome (TS). These findings, recently published in the journal Neuron, represent the first definitive TS risk genes surpassing a genome-wide significant threshold and will, according to Dr. Scharf, “...Give us strong footholds in our efforts to understand the biology of this disease.”
Read the publication: “Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome”
PNGU faculty members Rakesh Karmacharya, MD, PhD and Stephen Haggarty, PhD guest-edited the June 2016 edition of the journal Molecular and Cellular Neuroscience, which focused on "Stem Cell Models of Neuropsychiatric Disorders."
Jacob Garza, PhD, a postdoctoral fellow in the Petryshen laboratory, has received a five-year K22 Advanced Postdoctoral Career Transition Award to Promote Diversity in Neuroscience Research from the National Institute of Neurological Disorders and Stroke (NINDS). Dr. Garza will study rare variants in the ankyrin 2 gene (ANK2) implicated in autism spectrum disorders using human induced pluripotent stem cell (iPSC) derived neuron models and mouse models. Drs. Tracey Petryshen, Stephen Haggarty, and Mark Daly will serve as Dr. Garza's co-mentors.
"Mood, Anxiety Disorders common in Tourette patients, emerge at a young age"
Obsessive-Compulsive Disorder and ADHD are shown to be risk factors for additional psychiatric disorders in largest study to date, according to co-author Jeremiah Scharf, MD, PhD.
Mark Daly, PhD, has been named the 2014 recipient of the Curt Stern Award, which is presented yearly for outstanding scientific achievements in human genetics over the past decade.
Tracey Petryshen, PhD, and Amar Sahay, PhD, were accepted as 2015 Associate Members of the American College of Neuropsychopharmacology (ACNP).
Jeremiah Scharf, MD, PhD, lead author of a report in the October issue of the journal PLOS Genetics, discusses an international research consortium's insights into the genetic architecture of obsessive-compulsive disorder and Tourette syndrome.
PNGU faculty Jordan Smoller, MD, ScD, Phil Hyoun Lee, PhD, Roy Perlis, MD, Shaun Purcell, PhD, and Susan Santangelo, ScD were key members of a team that reported the largest genome-wide analysis of neuropsychiatric illness to date. The study, “Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis,” was published in The Lancet and examined genetic data from more than 60,000 people worldwide through the collaboration of the Cross-Disorder Group of the Psychiatric Genomics Consortium. The study found that common genetic variants are shared between five major psychiatric disorders: schizophrenia, bipolar disorder, major depressive disorder, attention deficit-hyperactivity disorder and autism spectrum disorders. The study also implicated genes involved in calcium channel signaling as contributors to all five disorders, a finding that may provide biological targets for new treatment strategies for these disorders.
Jordan Smoller, MD, ScD, was presented with an award for "Exceptional Mentorship in the Research Arena" by the Department of Psychiatry.
Jeremiah Scharf, MD, PhD, PNGU faculty member and co-chair of the Tourette Syndrome Association International Consortium for Genetics (TSAICG) was recently awarded a $1.3 million dollar grant from the National Institute of Neurological Disorders and Stroke on behalf of the TSAICG to conduct a follow-up genome-wide association study in 3000 individuals with Tourette Syndrome (TS) and 3000 ancestry-matched controls. The grant will also support pilot whole exome sequencing in 150 TS parent-proband trio families to screen for rare, de novo protein-damaging mutations as a contributing factor to TS genetic susceptibility.
The International Society of Psychiatric Genetics awarded three of its highly competitive travel awards for the XXth World Congress of Psychiatric Genetics to PNGU postdoctoral fellows: Laramie Duncan, PhD, Phil Hyoun Lee, PhD, and Nadia Solovieff, PhD.
Amar Sahay, PhD, was selected as an Ellison Medical Foundation New Scholar in Aging for his project "Reversing Age-Related Impairments in Pattern Separation to Improve Episodic Memory Function".
David Pauls, PhD, founding director of PNGU, was awarded the Tourette Syndrome Association's Lifetime Achievement Award "for a lifetime of commitment and research aimed at determining the genetic basis of Tourette Syndrome and related disorders."
Jordan Smoller, MD, director of PNGU, published The Other Side of Normal. In the book, Dr. Smoller addresses one of humankind’s most enduring and perplexing questions: What does it mean to be “normal?”
Melanie Leussis, PhD, postdoctoral research fellow in the Petryshen lab, won the Neal Alan Mysell Award for best poster presentation by a research fellow at the Harvard Medical School Psychiatry Research Day.
MEGHA is a MATLAB toolbox for fast and flexible high-dimensional heritability analysis using genome-wide single nucleotide polymorphism (SNP) data from unrelated individuals, developed by Mass General's Psychiatric & Neurodevelopmental Genetics Unit. Learn more about it in the article "Massively Expedited Genome-wide Heritability Analysis (MEGHA),” published in the Proceedings of the National Academy of Sciences of the Unite States of America.
Download the program
For more information or help with the program, please contact Tian Ge (TGE1@partners.org).
Contact: Kristin Joyce, Assistant to Dr. Jordan W. SmollerEmail: email@example.com
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