Psychiatric & Neurodevelopmental Genetics Unit

The mission of the Psychiatric & Neurodevelopmental Genetics Unit (PNGU) at Massachusetts General Hospital is to identify and characterize the genetic basis of psychiatric, behavioral and neurodevelopmental disorders and to translate these discoveries to improvements in clinical care and public health.


test tubes for genetic testing

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.

PNGU Core Lab

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.

Learm More About the PNGU

PNGU faculty
Meet the members of the Psychiatric & Neurodevelopmental Genetics Unit

Read the latest news from PNGU, including publications and awards

Employment opportunities
Find postings for open positions within PNGU

Download our proprietary program for heritability analysis

Contact us

PNGU Faculty



  • Rakesh Karmacharya, MD, PhD and Stephen Haggarty, PhD Guest Edit Journal

    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, Receives NIH Advanced Postdoctoral Career Transition Award

    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.

  • New JAMA Psychiatry Publication

    Dr. Jeremiah Scharf

    "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.




  • International Research Consortium Addresses Questions About Genetic Background of OCD

    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.

  • Genome-wide Analysis of Five Major Psychiatric Disorders Published

    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. 

  • PNGU Director Receives Mentorship Award

    Dr. Jordan Smoller

    Jordan Smoller, MD, ScD, was presented with an award for "Exceptional Mentorship in the Research Arena" by the Department of Psychiatry.




  • PNGU Faculty Receive Grant for Genome-wide Study of Tourette Syndrome

    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.

  • PNGU Postdocs Receive World Congress of Psychiatric Genetics Travel Award

    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, Chosen as Ellison Medical Foundation New Scholar in Aging

    Amar Sahay

    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, Receives Lifetime Achievement Award

    Dr. David Pauls

    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."



  • New Publication: The Other Side of Normal


    Smoller, Director of PNGU, published The Other Side of Normal (Harper Collins, 2012). In the book, Dr. Smoller addresses one of humankind’s most enduring and perplexing questions: What does it mean to be “normal?”





  • Mysell Award to PNGU postdoc

    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.

Employment Opportunities

Postdoctoral Research Fellow - Psychiatric Genetics, Statistical Genetics and Precision Medicine

Principal Investigator: Jordan Smoller, MD, ScD

The Psychiatric and Neurodevelopmental Genetics Unit in the Mass General Center for Human Genetic Research has an immediate opening for a postdoctoral position. The fellow will work on the development, integration and application of genetic, functional genomic, statistical and bioinformatic methods to large-scale studies of disease susceptibility and precision medicine. Ongoing studies include:

  • Common and rare variant genetic analyses of psychiatric and neurodevelopmental disorders
  • Neuroimaging genetics
  • Precision medicine analyses of electronic health records
  • Risk prediction modeling

Close supervision and intensive training will be provided by a team of collegial experts in neuropsychiatric genetics, statistical genetics, bioinformatics, computational biology, and genetic epidemiology.


We seek a highly motivated and dedicated MD or PhD in genetics/genomics, epidemiology, bioinformatics, applied mathematics or statistical genetics with excellent quantitative skills, proven ability to work well in a collaborative environment, fluency with all modes of communication in English and strong writing skills.

The successful applicant will have strong training in:

  • Statistics or biostatistics
  • Data mining
  • Functional genomic analysis

Must have experience with database management and computer programming.

How to apply

Please send a single email to Dr. Jordan W. Smoller ( containing:

  • Your CV
  • A short statement describing your qualifications for this position
  • Contact information for three professional references


MEGHA: Massively Expedited Genome-wide Heritability Analysis


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 (


Psychiatric & Neurodevelopmental Genetics Unit (PNGU)

Simches Research Building
185 Cambridge Street
Boston, MA 02114

Contact: Kristin Joyce, Assistant to Dr. Jordan W. Smoller

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