NIMH Repository and Genomics Resource for Advancing Psychiatric Genetics

Presenters:

Amanda J. Price, Ph.D.
Division of Neuroscience and Basic Behavioral Science

Goal:

The objective of this concept is to sustain, develop and enhance a centralized national biorepository which, under the rubric of the NIMH Human Genetics Initiative (HGI), will serve as the principal biorepository for cellular and genetic studies of psychiatric disorders. The HGI’s primary mission includes improving and enriching psychiatric genomics research resources for broad sharing with the scientific community. The long-term goal of this concept is to augment and accelerate the scientific understanding of the genetic risk architecture underlying mental disorders through facilitating the sharing of biospecimens and associated metadata.

Rationale:

In 1989, NIMH launched the HGI with the goal of creating a centralized national genomic resource. This effort resulted in the NIMH Repository and Genomics Research Resource (NRGR), the largest biorepository in psychiatry, providing access to roughly 400,000 well-characterized, high-quality patient and control biospecimens with a wide range of mental disorders across ancestrally diverse populations. In 2011, a stem cell repository was added to include induced pluripotent stem cells (iPSCs) and their derivatives in the banked resources. The NRGR is the principal biorepository for gene discovery in mental disorders, having distributed over 360,000 biospecimens across the globe to support genetic research studies on mental disorders over the past 12 years. More than 1,300 publications have resulted from the use of these resources, including many high-profile papers in psychiatric genetics with several hundred replicated genetic findings reported from large scale genome-wide studies. Biospecimen collections and publications and can be perused through the web portal, https://www.nimhgenetics.org/ . Continued support for NRGR is needed to implement innovative, cost-effective, scalable, efficient, and high-throughput approaches to: 

1. Receive, process, characterize, bank, and distribute human-derived biospecimens.
2. Generate, characterize, bank, and distribute renewable resources (e.g., lymphoblastoid cell lines, iPSC lines and their reprogrammed derivatives) from various human-derived cell types.
3. Implement integrated computational workflows, informatics platforms, and user-friendly web-based tools for monitoring and tracking data resources, querying/visualizing genetic and phenotypic data, and centrally integrating and managing data associated with biospecimens, including establishing linkages with other public data repositories (e.g., dbGaP, NIMH Data Archive) to provide single entry point access to data. 

This effort is expected to involve a functionally integrated, multi-disciplinary team that will provide a single, centralized, national resource for advancing basic and translational research in the cell biology and genetics of mental disorders. Given the importance of this resource and its impact in the field, we seek to continue our investment to sustain and enhance the NRGR for broad sharing of biospecimens and related data.