BD² aims to close a fundamental gap in science’s understanding of the genetic mechanisms of bipolar disorder.

Compared to other mental health disorders such as schizophrenia or major depressive disorder, bipolar disorder has far less available genetic data, which has hindered our understanding of the disorder, leading to ineffective interventions.

The BD² Genetics Platform will fund the collection and genetic sequencing on one of the largest and most diverse populations of people with bipolar disorder. The team will sequence more than 30,000 samples from people with bipolar disorder from Africa, Central America, South America, and Asia. The team will also sequence samples from individuals enrolled in the BD² Integrated Network.

  • Bipolar Disorder Sequencing & Gene Discovery

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    Study Rationale

    By generating a large genetic data set of diverse ancestries, this study will not only accelerate efforts for gene discovery in bipolar disorder but also address the historic lack of inclusiveness in bipolar disorder genetics research.

    Hypothesis Icon


    An increased and more diverse sample size will lead to the identification of rare genetic risk factors for bipolar disorder.

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    Study Design

    The team will perform blended genome exome sequencing on one of the largest and most diverse cohorts of people with bipolar disorder and compare it to individuals without bipolar disorder. They will sequence more than 30,000 samples collected from across Africa, Central America, South America, and Asia. This strategy will capture both common genetic variation that may have a relatively small impact on bipolar risk and rare coding variants that have a larger effect on bipolar risk. The team will then generate deep whole genome sequencing on a 2,000-sample subset to enhance the quality of common variant profiling.

    Impact on Diagnosis & Treatment  Icon

    Impact on Diagnosis & Treatment

    Bipolar disorder is highly heritable, meaning that it tends to run in families, but it is unclear how and what genes contribute to bipolar. This study will help close the gap in scientific understanding and enable a clearer picture of which genes influence bipolar risk. This study will spur genetic discovery efforts for bipolar disorder which may be the foundation for new approaches to understanding the biology and developing new interventions.


    Benjamin Neale, PhD
    The Broad Institute of MIT and Harvard
    Nelson Freimer, MD
    University of California, Los Angeles
    Tarjinder Singh, PhD
    New York Genome Center
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    Project Outcomes

    This study will generate actionable insights into common and rare genetic variations that increase bipolar risk. It will also build relationships with scientists, clinicians, and people living with bipolar around the world to ensure that this research benefits everyone living with bipolar disorder.

Explore Our Work

Learn how BD² will close a fundamental gap in understanding the biological mechanisms of bipolar disorder and the biological tissue that it impacts.