Department of Health and Human Services
Part 1. Overview Information
Participating Organization(s)

National Institutes of Health (NIH)

Components of Participating Organizations

National Human Genome Research Institute (NHGRI)

Funding Opportunity Title

Mendelian Genomics Data Coordinating Center (U24 Clinical Trial Not Allowed)

Activity Code

U24 Resource-Related Research Projects – Cooperative Agreements

Announcement Type

New

Related Notices

March 26, 2020 - NIH Late Application Policy Due to Public Health Emergency for United States for 2019 Novel Coronavirus (COVID-19). See Notice NOT-OD-20-091.

March 10, 2020 - Reminder: FORMS-F Grant Application Forms & Instructions Must be Used for Due Dates On or After May 25, 2020- New Grant Application Instructions Now Available. See Notice NOT-OD-20-077.

March 25, 2020 - Notice of Change of Receipt Date for Mendelian Genomics Research Centers (RFA-HG-20-007) and Mendelian Genomics Data Coordinating Center (RFA-HG-20-008). See Notice NOT-HG-20-033.

January 24, 2020 - Notice of Pre-Application Webinars for the Mendelian Genomics Research Centers (RFA-HG-20-007) and Mendelian Genomics Data Coordinating Center (RFA-HG-20-008). See Notice NOT-HG-20-018.

Funding Opportunity Announcement (FOA) Number

RFA-HG-20-008

Companion Funding Opportunity

RFA-HG-20-007, Mendelian Genomics Research Centers (U01 Clinical Trial Optional)

Catalog of Federal Domestic Assistance (CFDA) Number(s)

 93.172

Funding Opportunity Purpose

The purpose of this FOA is to solicit applications to develop and implement a Mendelian Genomics Data Coordination Center (MGDCC) for the Mendelian Genomics Research Consortium. The MGDCC will be responsible for managing the release of data and findings generated under the program, as well as program outreach, ensuring maximum utility for the research community. The MGDCC will also coordinate program logistics, supporting effective working groups and meetings. Finally, the MGDCC will oversee the program’s Opportunity Fund, providing rapid turnaround short-term funding for functional follow-up studies to program findings.

Key Dates
Posted Date

January 10, 2020

Open Date (Earliest Submission Date)

March 16, 2020

Letter of Intent Due Date(s)

New Date June 15, 2020

Application Due Date(s)

New Date July 15, 2020

All applications are due by 5:00 PM local time of applicant organization. All types of non-AIDS applications allowed for this funding opportunity announcement are due on the listed date(s). No late applications will be accepted for this Funding Opportunity Announcement.

Applicants are encouraged to apply early to allow adequate time to make any corrections to errors found in the application during the submission process by the due date.

AIDS Application Due Date(s)

Not Applicable

Scientific Merit Review

New Date November 2020

Advisory Council Review

New Date January 2021

Earliest Start Date

New Date April 2021

Expiration Date

New Date July 16, 2020 per issuance of NOT-HG-20-033. (Original Expiration Date: April 16, 2020)

Due Dates for E.O. 12372

Not Applicable

Required Application Instructions

It is critical that applicants follow the Research (R) Instructions in the SF424 (R&R) Application Guide, except where instructed to do otherwise (in this FOA or in a Notice from the NIH Guide for Grants and Contracts). Conformance to all requirements (both in the Application Guide and the FOA) is required and strictly enforced. Applicants must read and follow all application instructions in the Application Guide as well as any program-specific instructions noted in Section IV. When the program-specific instructions deviate from those in the Application Guide, follow the program-specific instructions. Applications that do not comply with these instructions may be delayed or not accepted for review.


There are several options available to submit your application through Grants.gov to NIH and Department of Health and Human Services partners. You must use one of these submission options to access the application forms for this opportunity.

  1. Use the NIH ASSIST system to prepare, submit and track your application online.
  2. Use an institutional system-to-system (S2S) solution to prepare and submit your application to Grants.gov and eRA Commons to track your application. Check with your institutional officials regarding availability.

  3. Use Grants.gov Workspace to prepare and submit your application and eRA Commons to track your application.


  4. Table of Contents

    Part 1. Overview Information
    Part 2. Full Text of the Announcement

    Section I. Funding Opportunity Description
    Section II. Award Information
    Section III. Eligibility Information
    Section IV. Application and Submission Information
    Section V. Application Review Information
    Section VI. Award Administration Information
    Section VII. Agency Contacts
    Section VIII. Other Information


    Part 2. Full Text of Announcement
    Section I. Funding Opportunity Description

    The purpose of this FOA is to solicit applications to develop and implement a Mendelian Genomics Data Coordination Center (MGDCC) for the Mendelian Genomics Research Consortium. The MGDCC will be responsible for managing the release of data and findings generated under the program, ensuring maximum utility for the research community. The MGDCC will also coordinate program logistics, supporting effective working groups and coordinating meetings. Finally, the MGDCC will oversee the program’s Opportunity Fund, providing rapid turnaround short-term funding for functional follow-up studies to program findings. Through these activities, the MGDCC will be a key member of NHGRI’s Mendelian Genomics Research Consortium.

    Background

    Mendelian conditions are rare, and generally caused by highly penetrant mutations in single genes. The genes and causal genetic variants associated with human Mendelian diseases must be identified in order to develop diagnostic tests or therapeutic strategies for these conditions. The application of next-generation sequencing to Mendelian conditions has had an enormous impact on the pace of Mendelian gene discovery. Today, close to 300 Mendelian disease genes are identified per year, primarily using whole exome sequencing.

    Although tremendous progress has been made in advancing our understanding of the genetic cause of Mendelian conditions, much work remains to be done. One challenge is the high rate of unsolved cases, i.e., known Mendelian conditions for which whole exome sequencing did not identify an underlying genetic cause. The diagnosis rate in clinical diagnostic laboratories is reported to be anywhere between 20-40%. Even in research programs like the NHGRI-funded Centers for Mendelian Genomics, which used a stringent selection process aimed at choosing cases with the highest likelihood of being solved, approximately one third of the cases sequenced had no identified candidate gene, and only half of the cases analyzed had enough supporting evidence to be classified as truly solved. Some of these cases might be solved with re-analysis or by identifying additional individuals with the same underlying condition, but many of them may reflect cases of more complex genetic inheritance (e.g., mutations that are located outside of coding regions in functional genomic elements, structural variants, or other mechanisms that are not amenable to being identified using whole exome analysis).

    An additional challenge is the need for more scalable approaches to functional validation of candidate variants, both to prioritize among a list of potential candidates, and to confirm suggestive variant/phenotype associations. Once a candidate variant(s) is identified, additional experiments must often be done to raise the association from the tier 2 (i.e. suggestive) to tier 1 (i.e. confirmed) level, including demonstrating that the candidate variant does in fact impact protein function in relevant pathways, and recapitulating the phenotype in a model organism. These types of corroborative data are necessary before researchers can begin additional investigation into the underlying biology of the disease and before the findings can be translated into diagnostic testing.

    One of the most significant challenges in this field are the barriers to data sharing. Data sharing will be especially important for solving cases that were not solved after initial whole exome sequencing, not only because it can assist in identifying additional related cases, but because it allows other researchers to apply novel analytical approaches that may prove successful. Challenges to data sharing include historic samples that have restrictive data use limitations, or have limited phenotype information, making the data less useful for further analysis. Traditionally challenges have also included limitations to the platforms for responsible sharing of participant and patient data. There is a need to move the field towards increased, but still responsible data sharing, focusing on samples consented for broad data sharing, and the development of an infrastructure that will enable secure, but accessible, sharing among researchers.

    Research Scope

    The MGDCC will be a key element of the Mendelian Genomics Research Consortium, which is composed of two FOAs, of which this FOA is one:

    RFA-HG-20-007, Mendelian Genomics Research Centers (U01 Clinical Trial Optional)

    RFA-HG-20-008, Mendelian Genomics Data Coordinating Center (U24 Clinical Trial Not Allowed)

    The MGDCC’s tasks fall into four general categories:

    • Managing data release
    • Managing program outreach
    • Coordinating logistics
    • Managing the opportunity fund

    In all these areas, the MGDCC will need to work closely with other researchers in the Consortium, external researchers, NIH staff, and data repositories.

    These three categories are described in more detail below.

    1. Managing data release

    Many of the activities of the MGDCC will involve managing data release and supporting outreach for the program. These activities fall into the following categories:

    Receiving data from MGRCs

    The MGDCC will be responsible for receiving sequence data, associated metadata, and phenotypic data from the MGRCs. The MGDCC will work with the MGRCs to define both the process and standards for these submissions. These standards will enable high-throughput submissions and integration with processes and pipelines of the MGRCs. Through this process, the Consortium will define the required data to be included for each sample and the level of harmonization expected. The MGDCC will be responsible for validating the incoming data against the agreed-upon standards and working with MGRCs to resolve validation errors.

    The MGDCC will also work with the Consortium to collect sample-level tracking information and information on ongoing collaborations by the MGRCs. This information will be made available to NIH and all MGRCs to ensure transparency and facilitate coordinated analyses across cohorts. 

    Submitting curated data to appropriate resources

    Once the information has been received and validated, the MGDCC will be responsible for ensuring data are submitted to the appropriate NIH-designated repositories. This is likely to require close and ongoing interactions between the MGDCC staff and these repositories. Sequence data, associated metadata, and phenotypic data should be deposited to an NIH-designated repository such as the NIH AnVIL. Variant information should be made available through services such as Matchmaker Exchange. Both novel and previously-known variant interpretations should be made available through resources such as ClinVar to add to the evidence base for variant interpretation. The MGDCC will work with the Consortium and NIH staff to define the specific repositories to be used. All data submissions should adhere to the FAIR principles (Findable, Accessible, Interoperable, and Reusable). Timelines for submissions will be defined by the Consortium but are expected to be on a rolling and frequent basis such as monthly.

    The MGDCC is not expected to serve as the long-term repository for large datasets (e.g., large amounts of sequence data). While data will need to be temporarily stored at the MGDCC, once submitted to the appropriate repositories the MGDCC should evaluate whether they need to maintain copies of these datasets. The MGDCC may choose to maintain copies of only a subset of the data (e.g., maintaining sample tracking data but not whole exome sequencing data).

    Supporting innovations in data sharing

    The MGDCC will be responsible for enhancing and supporting methods for sharing data both with members of the Consortium and with members of the larger scientific community. Sharing data from unsolved cases and other complex cases (such as phenotype expansions) will be a high priority. These methods should allow both the MGRCs and others in the larger ecosystem of Mendelian and rare disease research to collaborate on these cases. The MGDCC should leverage external resources such as the AnVIL for this activity while ensuring that this information is shared in a way that enables researchers to identify unsolved or complex cases of interest, analyze data across multiple sites, and work together to solve these cases. For sharing data within the Consortium, the MGDCC will need to maintain the authoritative list of all researchers within the Consortium authorized to access data and provide this list as needed to the relevant data repositories. If proposing to use the AnVIL for performing analysis or sharing data within the consortium, the MGDCC will need to budget for compute, storage, and egress charges on the AnVIL based on the cloud platform market pricing.

    Reporting on program progress

    The MGDCC will be responsible for collecting data on the progress and findings of the MGRCs. This will include information on samples in pipelines, conditions being studied, sequencing status, data submission status, discoveries, and publications. Much of this information should be extracted from data the MGRCs are already submitting to the MGDCC, but some information will need to be collected specifically for these reports.

    The frequency, timing, and method for collecting this information will be determined in close collaboration with NIH and the Consortium.

    2. Supporting program outreach

    The MGDCC will be responsible for supporting coordinated outreach for the Consortium. This should include a user-friendly portal that highlights products of the Consortium. The MGDCC should propose tools and approaches enabling users on the portal to interact with the progress data being tracked by the MGDCC. Some of this information will be shared publicly on the portal while other information will need to be restricted to specific users.

    Applicants should also propose novel approaches for increasing awareness of the program among rare disease researchers, families with rare diseases, and the general public. This outreach should particularly facilitate enrollment and encourage researchers to interact with the program’s data.

    Applicants should also describe how they will support interactions between the Consortium and the larger genomics, rare disease, and Mendelian disease research communities. Partnerships should be proposed to leverage unique resources from other communities (e.g., model organism researchers). Where appropriate, these should integrate with global activities such as the International Rare Diseases Research Consortium, Matchmaker Exchange, and the Global Alliance for Genomics and Health.

    3. Coordinating logistics

    The MGDCC will be a resource for logistics and communication among Consortium members and external collaborators. This will include scheduling and hosting regular (e.g., weekly) remote working group meetings. The MGDCC should propose ways to support these activities leveraging remote meeting and collaboration technologies. For these meetings, the MGDCC will be responsible for working with NIH and the MGRCs for scheduling. The MGDCC will also be responsible for taking and distributing notes and action items for these meetings.

    The MGDCC will also be responsible for organizing two annual in-person meetings for the Consortium in the Bethesda, Maryland area. One will be limited to the Steering Committee members while the other will involve approximately 100 attendees. The MGDCC will be responsible for securing a venue (including A/V support) and coordinating logistics for these meetings. The MGDCC will also be responsible for supporting travel costs for the External Scientific Panel (ESP) to both meetings (approximately five individuals).

    4. Managing the Opportunity Fund

    The Opportunity Fund will support novel functional follow-up on candidate variants that the MGRCs have identified but are not able to confirm as causal. It is expected that these awards be issued starting in the second year of the MGDCC and will each last one year. New awards will be issued in years 2-5 of the program. Up to 5 awards per year are anticipated. The MGDCC will provide an administrative structure to manage this Opportunity Fund. This will involve organizing a review and recommendation process to recommend projects for approval by the Steering Committee. Once funding decisions are made, the MGDCC will be responsible for disbursing and tracking funds to the awardees. The MGDCC will also be responsible for collecting quarterly progress reports from opportunity funds awardees and providing the information to NIH.

    In accomplishing the objectives above, applicants should bear in mind that the MGDCC will need to work closely with other program awardees and with NHGRI program staff. Some projects undertaken by the Consortium will involve outside collaborators and may be embedded in other existing consortia with their own coordinating functions. The entire consortium, but especially the MGDCC, will need to work flexibly with these consortia in order to make the most efficient use of NHGRI resources.

    The MGDCC will not be responsible for analyses of individual projects undertaken by the MGRCs.

    Program Formation and Governance

    The awards funded under this FOA will be cooperative agreements. The MGDCC will need to work with the Mendelian Genomics Research Centers (MGRCs) and with NIH staff in order to fully achieve the goals of the Mendelian Genomics Research Consortium.

    The MGDCC will also be expected to work closely with the MGRCs to establish data formats and standards, to track and catalog collaborations and incoming samples, report findings, and coordinate the transfer of sequence, variant, and phenotypic data to the MGDCC, who will be responsible for sharing these data more broadly.

    A Steering Committee will be the main governing body of the Mendelian Genomics Research Consortium. The Steering Committee will be composed of the PD/PI(s) from each of the funded MGRCs and the MGDCC, and NIH program staff. In addition to the PD(s)/PI(s), key personnel from the MGDCC, including pre- and post-doctoral trainees, will be eligible to attend Steering Committee meetings. The Steering Committee will establish subcommittees or working groups to facilitate collaborative work, standardize approaches, and achieve other goals of the Consortium. The MGDCC will be expected to play an active role in these working groups, which may include (but are not limited to) groups focused on specific cross-consortium activities, such as analysis of unsolved cases, variant interpretation, functional follow-up, outreach and education, collaborative efforts with outside groups, or international data sharing. The Steering Committee will also work to define and prioritize research needs to be supported through the opportunity fund. An external scientific panel will be formed after awards are made to provide recommendations and advice.

    See Section VIII. Other Information for award authorities and regulations.

    Section II. Award Information
    Funding Instrument

    Cooperative Agreement: A support mechanism used when there will be substantial Federal scientific or programmatic involvement. Substantial involvement means that, after award, NIH scientific or program staff will assist, guide, coordinate, or participate in project activities. See Section VI.2 for additional information about the substantial involvement for this FOA.

    Application Types Allowed

    New

    The OER Glossary and the SF424 (R&R) Application Guide provide details on these application types. Only those application types listed here are allowed for this FOA.

    Clinical Trial?

    Not Allowed: Only accepting applications that do not propose clinical trials

    Need help determining whether you are doing a clinical trial?

    Funds Available and Anticipated Number of Awards

    NHGRI intends to commit $2,250,000 in FY 2021 and $3,000,000 in FY 2022-2025 to fund 1 award.

    Award Budget
    Application budgets are not limited but need to reflect the actual needs of the proposed project.
    Award Project Period

    The scope of the proposed project should determine the project period. The maximum project period is five years.  

    NIH grants policies as described in the NIH Grants Policy Statement will apply to the applications submitted and awards made from this FOA.

    Section III. Eligibility Information
    1. Eligible Applicants
    Eligible Organizations

    Higher Education Institutions

    • Public/State Controlled Institutions of Higher Education
    • Private Institutions of Higher Education

    The following types of Higher Education Institutions are always encouraged to apply for NIH support as Public or Private Institutions of Higher Education:

    • Hispanic-serving Institutions
    • Historically Black Colleges and Universities (HBCUs)
    • Tribally Controlled Colleges and Universities (TCCUs)
    • Alaska Native and Native Hawaiian Serving Institutions
    • Asian American Native American Pacific Islander Serving Institutions (AANAPISIs)

    Nonprofits Other Than Institutions of Higher Education

    • Nonprofits with 501(c)(3) IRS Status (Other than Institutions of Higher Education)
    • Nonprofits without 501(c)(3) IRS Status (Other than Institutions of Higher Education)

    For-Profit Organizations

    • Small Businesses
    • For-Profit Organizations (Other than Small Businesses)

    Governments

    • State Governments
    • County Governments
    • City or Township Governments
    • Special District Governments
    • Indian/Native American Tribal Governments (Federally Recognized)
    • Indian/Native American Tribal Governments (Other than Federally Recognized)
    • Eligible Agencies of the Federal Government
    • U.S. Territory or Possession

    Other

    • Independent School Districts
    • Public Housing Authorities/Indian Housing Authorities
    • Native American Tribal Organizations (other than Federally recognized tribal governments)
    • Faith-based or Community-based Organizations
    • Regional Organizations
    • Non-domestic (non-U.S.) Entities (Foreign Institutions)
    Foreign Institutions

    Non-domestic (non-U.S.) Entities (Foreign Institutions) are  eligible to apply.

    Non-domestic (non-U.S.) components of U.S. Organizations are  eligible to apply.

    Foreign components, as defined in the NIH Grants Policy Statement, are  allowed.

    Required Registrations

    Applicant Organizations

    Applicant organizations must complete and maintain the following registrations as described in the SF 424 (R&R) Application Guide to be eligible to apply for or receive an award. All registrations must be completed prior to the application being submitted. Registration can take 6 weeks or more, so applicants should begin the registration process as soon as possible. The NIH Policy on Late Submission of Grant Applications states that failure to complete registrations in advance of a due date is not a valid reason for a late submission.

    • Dun and Bradstreet Universal Numbering System (DUNS) - All registrations require that applicants be issued a DUNS number. After obtaining a DUNS number, applicants can begin both SAM and eRA Commons registrations. The same DUNS number must be used for all registrations, as well as on the grant application.
    • System for Award Management (SAM)– Applicants must complete and maintain an active registration, which requires renewal at least annually. The renewal process may require as much time as the initial registration. SAM registration includes the assignment of a Commercial and Government Entity (CAGE) Code for domestic organizations which have not already been assigned a CAGE Code.
    • NATO Commercial and Government Entity (NCAGE) Code – Foreign organizations must obtain an NCAGE code (in lieu of a CAGE code) in order to register in SAM. 
    • eRA Commons - Applicants must have an active DUNS number to register in eRA Commons.  Organizations can register with the eRA Commons as they are working through their SAM or Grants.gov registration, but all registrations must be in place by time of submission. eRA Commons requires organizations to identify at least one Signing Official (SO) and at least one Program Director/Principal Investigator (PD/PI) account in order to submit an application.
    • Grants.gov – Applicants must have an active DUNS number and SAM registration in order to complete the Grants.gov registration.

    Program Directors/Principal Investigators (PD(s)/PI(s))

    All PD(s)/PI(s) must have an eRA Commons account.  PD(s)/PI(s) should work with their organizational officials to either create a new account or to affiliate their existing account with the applicant organization in eRA Commons. If the PD/PI is also the organizational Signing Official, they must have two distinct eRA Commons accounts, one for each role. Obtaining an eRA Commons account can take up to 2 weeks.

    Eligible Individuals (Program Director/Principal Investigator)

    Any individual(s) with the skills, knowledge, and resources necessary to carry out the proposed research as the Program Director(s)/Principal Investigator(s) (PD(s)/PI(s)) is invited to work with his/her organization to develop an application for support. Individuals from underrepresented racial and ethnic groups as well as individuals with disabilities are always encouraged to apply for NIH support.

    For institutions/organizations proposing multiple PDs/PIs, visit the Multiple Program Director/Principal Investigator Policy and submission details in the Senior/Key Person Profile (Expanded) Component of the SF424 (R&R) Application Guide.

    2. Cost Sharing

    This FOA does not require cost sharing as defined in the NIH Grants Policy Statement.

    3. Additional Information on Eligibility
    Number of Applications

    Applicant organizations may submit more than one application, provided that each application is scientifically distinct.

    The NIH will not accept duplicate or highly overlapping applications under review at the same time.  This means that the NIH will not accept:

    • A new (A0) application that is submitted before issuance of the summary statement from the review of an overlapping new (A0) or resubmission (A1) application.
    • A resubmission (A1) application that is submitted before issuance of the summary statement from the review of the previous new (A0) application.
    • An application that has substantial overlap with another application pending appeal of initial peer review (see NOT-OD-11-101).
    Section IV. Application and Submission Information
    1. Requesting an Application Package

    The application forms package specific to this opportunity must be accessed through ASSIST, Grants.gov Workspace or an institutional system-to-system solution. Links to apply using ASSIST or Grants.gov Workspace are available in Part 1 of this FOA. See your administrative office for instructions if you plan to use an institutional system-to-system solution.

    2. Content and Form of Application Submission

    It is critical that applicants follow the Research (R) Instructions in the SF424 (R&R) Application Guide, except where instructed in this funding opportunity announcement to do otherwise. Conformance to the requirements in the Application Guide is required and strictly enforced. Applications that are out of compliance with these instructions may be delayed or not accepted for review.

    Letter of Intent

    Although a letter of intent is not required, is not binding, and does not enter into the review of a subsequent application, the information that it contains allows IC staff to estimate the potential review workload and plan the review.

    By the date listed in Part 1. Overview Information, prospective applicants are asked to submit a letter of intent that includes the following information:

    • Descriptive title of proposed activity
    • Name(s), address(es), and telephone number(s) of the PD(s)/PI(s)
    • Names of other key personnel
    • Participating institution(s)
    • Number and title of this funding opportunity

    The letter of intent should be sent to:

    Chris Wellington
    National Human Genome Research Institute (NHGRI)  
    Telephone: 301-480-3496
    Email: wellingtonc@mail.nih.gov

    Page Limitations

    All page limitations described in the SF424 Application Guide and the Table of Page Limits must be followed.

    Instructions for Application Submission

    The following section supplements the instructions found in the SF424 (R&R) Application Guide and should be used for preparing an application to this FOA.

    SF424(R&R) Cover

    All instructions in the SF424 (R&R) Application Guide must be followed.  

    SF424(R&R) Project/Performance Site Locations

    All instructions in the SF424 (R&R) Application Guide must be followed.  

    SF424(R&R) Other Project Information

    All instructions in the SF424 (R&R) Application Guide must be followed.  

    SF424(R&R) Senior/Key Person Profile

    All instructions in the SF424 (R&R) Application Guide must be followed. 

    Without duplicating information contained the biosketches, describe the investigator's experience successfully coordinating and collaborating with efforts of comparable size and complexity. Describe the investigator’s scientific expertise in data science and data management. Also describe the investigator’s expertise in making data accessible to the research community, performing outreach to the scientific community, and managing consortium logistics.

    R&R Budget

    All instructions in the SF424 (R&R) Application Guide must be followed.

    Budget information should be described so that all items, including percentage of effort, can be clearly allocated to each of the four broad roles described in the Scope and Objectives section.

    In years 2 through 5, $750,000 (total costs) should be devoted to awards to be made under the Opportunity Fund. No funds should be budgeted for awards under the Opportunity Fund in year 1.

    Effective management of this center requires a significant commitment by the Program Director(s)/Principal Investigator(s). For an application proposing a single PD/PI, that PD/PI is expected to devote at least 3 person months annually to the project. If multi-PDs/PIs are proposed, then one PD/PI is expected to commit at least 3 person months annually and the other(s) should devote sufficient time to serve his/her proposed role.

    R&R Subaward Budget

    All instructions in the SF424 (R&R) Application Guide must be followed.

    PHS 398 Cover Page Supplement

    All instructions in the SF424 (R&R) Application Guide must be followed.  

    PHS 398 Research Plan

    All instructions in the SF424 (R&R) Application Guide must be followed, with the following additional instructions:

    Research Strategy: 

    Within the Research Strategy, applicants should address general considerations likely to lead to a successful MGDCC for the Mendelian Genomics Research Consortium and should identify synergies between the different objectives. Applicants should include a brief description of how the overall effort will be managed. Applicants should also propose approaches to collaboratively addressing the four roles described in the Scope and Objectives (1. Managing data release; 2. Managing program outreach; 3. Coordinating logistics; and 4. Managing the Opportunity Fund).

    Applicants should provide an overall design, operational plan, and organizational structure that are well-reasoned and appropriate to accomplish the goals of the Consortium. Potential problems, alternative strategies, and benchmarks for success should be presented. The strategy for launching the MGDCC should establish feasibility and appropriately manage particularly risky aspects. It is understood that applicants will not have data from the MGRCs in hand at the time of application. MGRCs may use a variety of data generation technologies and these could change over the life of the program. Therefore, MGDCC applicants should demonstrate scientific expertise in data management and data science and propose flexible approaches to contributing to the Consortium goals.

    MGDCC applicants should propose plans for providing leadership in making data available to the research community (both to researchers within the consortium and to researchers outside the consortium). Applicants should describe approaches likely to facilitate consensus and work collaboratively with the MGRCs and how they will address changing needs of the program over time.

    The section on program outreach should describe how the listed activities in the Scope and Objectives, including the user-friendly portal, will be accomplished, staffed and managed.  This should include a plan for how they will work collaboratively with the MGRCs to coordinate and implement these efforts.

    The section on Providing coordination should discuss how the listed activities in the Scope and Objectives will be accomplished, staffed and managed.  Applicants are encouraged to describe how their plans in this section will leverage their experience described in the Biographical Sketch. Applicants are encouraged to propose and justify any other coordination activities that would be useful to the Consortium but not listed explicitly elsewhere in this FOA.

    For the Opportunity Fund, applicants should describe the process whereby applications for functional follow-up will be advertised/solicited, received, reviewed, selected for funding and awarded. Applicants should also describe plans for interacting with award institutions. Plans for monitoring successful projects should also be provided.  

    Resource Sharing Plan: Individuals are required to comply with the instructions for the Resource Sharing Plans as provided in the SF424 (R&R) Application Guide, with the following modification:

    • Applicants are required to provide plans for any of the specific items in the Scope and Objectives related to making data available that are not otherwise described in the Research Plan, as appropriate and consistent with achieving the goals of the program.
    • All applications, regardless of the amount of direct costs requested for any one year, should address a Data Sharing Plan.
    • The Resource Sharing Plan is expected to also include:
    • Plans for sharing appropriate phenotypic data and sequencing metadata, with a focus on existing or emerging standards for FAIR (findable, accessible, interoperable and reusable) genomic data.
    • Plans for making any research tools (including informatics analysis or data processing tools) and new methods developed under this award freely available. For this FOA tools, methods and software should be well-documented and, where applicable, made available via version-controlled public repositories.

    Appendix:

    Only limited Appendix materials are allowed. Follow all instructions for the Appendix as described in the SF424 (R&R) Application Guide.

    PHS Human Subjects and Clinical Trials Information

    When involving human subjects research, clinical research, and/or NIH-defined clinical trials (and when applicable, clinical trials research experience) follow all instructions for the PHS Human Subjects and Clinical Trials Information form in the SF424 (R&R) Application Guide, with the following additional instructions:

    If you answered “Yes” to the question “Are Human Subjects Involved?” on the R&R Other Project Information form, you must include at least one human subjects study record using the Study Record: PHS Human Subjects and Clinical Trials Information form or Delayed Onset Study record.

    Study Record: PHS Human Subjects and Clinical Trials Information

    All instructions in the SF424 (R&R) Application Guide must be followed.

    Delayed Onset Study

    Note: Delayed onset does NOT apply to a study that can be described but will not start immediately (i.e., delayed start).

    All instructions in the SF424 (R&R) Application Guide must be followed.

    PHS Assignment Request Form

    All instructions in the SF424 (R&R) Application Guide must be followed. 

    Foreign Institutions

    Foreign (non-U.S.) institutions must follow policies described in the NIH Grants Policy Statement, and procedures for foreign institutions.

    3. Unique Entity Identifier and System for Award Management (SAM)

    See Part 1. Section III.1 for information regarding the requirement for obtaining a unique entity identifier and for completing and maintaining active registrations in System for Award Management (SAM), NATO Commercial and Government Entity (NCAGE) Code (if applicable), eRA Commons, and Grants.gov

    4. Submission Dates and Times

    Part I. Overview Information contains information about Key Dates and times. Applicants are encouraged to submit applications before the due date to ensure they have time to make any application corrections that might be necessary for successful submission. When a submission date falls on a weekend or Federal holiday, the application deadline is automatically extended to the next business day.

    Organizations must submit applications to Grants.gov (the online portal to find and apply for grants across all Federal agencies). Applicants must then complete the submission process by tracking the status of the application in the eRA Commons, NIH’s electronic system for grants administration. NIH and Grants.gov systems check the application against many of the application instructions upon submission. Errors must be corrected and a changed/corrected application must be submitted to Grants.gov on or before the application due date and time.  If a Changed/Corrected application is submitted after the deadline, the application will be considered late. Applications that miss the due date and time are subjected to the NIH Policy on Late Application Submission.

    Applicants are responsible for viewing their application before the due date in the eRA Commons to ensure accurate and successful submission.

    Information on the submission process and a definition of on-time submission are provided in the SF424 (R&R) Application Guide.

    5. Intergovernmental Review (E.O. 12372)

    This initiative is not subject to intergovernmental review.

    6. Funding Restrictions

    All NIH awards are subject to the terms and conditions, cost principles, and other considerations described in the NIH Grants Policy Statement.

    Pre-award costs are allowable only as described in the NIH Grants Policy Statement.

    7. Other Submission Requirements and Information

    Applications must be submitted electronically following the instructions described in the SF424 (R&R) Application Guide.  Paper applications will not be accepted.

    Applicants must complete all required registrations before the application due date. Section III. Eligibility Information contains information about registration.

    For assistance with your electronic application or for more information on the electronic submission process, visit How to Apply – Application Guide. If you encounter a system issue beyond your control that threatens your ability to complete the submission process on-time, you must follow the Dealing with System Issues guidance. For assistance with application submission, contact the Application Submission Contacts in Section VII.

    Important reminders:

    All PD(s)/PI(s) must include their eRA Commons ID in the Credential field of the Senior/Key Person Profile Component of the SF424(R&R) Application Package. Failure to register in the Commons and to include a valid PD/PI Commons ID in the credential field will prevent the successful submission of an electronic application to NIH. See Section III of this FOA for information on registration requirements.

    The applicant organization must ensure that the DUNS number it provides on the application is the same number used in the organization’s profile in the eRA Commons and for the System for Award Management. Additional information may be found in the SF424 (R&R) Application Guide.

    See more tips for avoiding common errors.

    Upon receipt, applications will be evaluated for completeness and compliance with application instructions by the Center for Scientific Review and responsiveness by components of participating organizations, NIH. Applications that are incomplete, non-compliant and/or nonresponsive will not be reviewed.

    Post Submission Materials

    Applicants are required to follow the instructions for post-submission materials, as described in the policy. Any instructions provided here are in addition to the instructions in the policy.

    Section V. Application Review Information
    1. Criteria

    Only the review criteria described below will be considered in the review process.

    Applications submitted to the NIH in support of the NIH mission are evaluated for scientific and technical merit through the NIH peer review system.

    For this particular announcement, note the following:

    This U24 FOA will support a Mendelian Genomics Data Coordinating Center for the NHGRI Mendelian Genomic Research Centers (MGRCs). The MGRCs will not be funded before applications submitted for this FOA are reviewed. Therefore, applicants will necessarily need to make assumptions (e.g., specific data types that will be produced and pipelines that will be in place at the MGRCs) and propose approaches in general terms. However, applicants should demonstrate enough scientific expertise in these areas to play a leadership role in ensuring that data from the MGRCs are accessible and maximally useful for cross-consortium analyses and for the scientific community.

    Because this FOA is for a coordinating center, it is critical that all proposed objectives be carried out collaboratively with the MGRCs (who will have funds available to contribute to their aspects of the goals) and NHGRI staff.

    Overall Impact

    Reviewers will provide an overall impact score to reflect their assessment of the likelihood for the project to exert a sustained, powerful influence on the research field(s) involved, in consideration of the following review criteria and additional review criteria (as applicable for the project proposed).

    Scored Review Criteria

    Reviewers will consider each of the review criteria below in the determination of scientific merit, and give a separate score for each. An application does not need to be strong in all categories to be judged likely to have major scientific impact. For example, a project that by its nature is not innovative may be essential to advance a field.

    Significance

    Does the proposed Center address the needs of the research consortium that it will serve? Is the scope of activities proposed for the MGDCC appropriate to meet those needs? Will successful completion of the aims bring unique advantages or capabilities to the research consortium?  

    Investigator(s)

    Are the PD(s)/PI(s) and other personnel well suited to their roles in the MGDCC? Do they have appropriate experience and training, and have they demonstrated experience and an ongoing record of accomplishments in managing genomics research? Do the investigators demonstrate significant experience with coordinating collaborative basic and clinical research? If the Center is multi-PD/PI, do the investigators have complementary and integrated expertise and skills; are their leadership approach, governance, plans for conflict resolution, and organizational structure appropriate for the Center? Does the applicant have experience overseeing selection and management of subawards, if needed?

    Do PI(s)/PD(s) demonstrate scientific expertise in data science and data management? Do PI(s)/PD(s) have expertise in making data accessible to the research community, performing outreach to the scientific community, and managing consortium logistics?

    Are the PD(s)/PI(s) and any key investigators likely to be able to accomplish all the objectives in a highly collaborative, fair, and flexible manner, appropriate to the coordinating center roles described in this FOA?  

    Innovation

    Does the application propose novel organizational concepts, management strategies, or instrumentation in coordinating the research consortium the MGDCC will serve? Are the concepts, strategies, or instrumentation novel to one type of research program or applicable in a broad sense? Is a refinement, improvement, or new application of organizational concepts, management strategies or instrumentation proposed?

    Approach

    Are the overall strategy, operational plan, and organizational structure well-reasoned and appropriate to accomplish the goals of the research consortium the MGDCC will serve? Will the investigators promote strategies to ensure a robust and unbiased scientific approach across the consortium, as appropriate for the work proposed? Are potential problems, alternative strategies, and benchmarks for success presented? If the consortium is in the early stages of operation, does the proposed strategy adequately establish feasibility and manage the risks associated with the activities of the consortium? Are an appropriate plan for work-flow and a well-established timeline proposed?  Have the investigators presented adequate plans to ensure consideration of relevant biological variables, such as sex, for studies of vertebrate animals or human subjects?

    Do the plans for the objectives relating to providing and coordinating administrative and logistical support clearly set out how the multiple objectives will be accomplished, staffed and managed? Do the plans consider the likely size and scope of the Consortium? Are they efficient and scalable? Will they be effective?

    For the Opportunity Fund, is the process whereby applications for functional follow-up will be advertised/solicited, received, reviewed, selected for funding and awarded sufficiently detailed? Are the plans that are provided for interacting with award institutions adequate? Is information provided on how funded projects will be monitored by core personnel to ensure success and productivity?

    Environment

    Will the institutional environment in which the MGDCC will operate contribute to the probability of success in facilitating the research consortium it serves? Are the institutional support, equipment and other physical resources available to the investigators adequate for the MGDCC proposed? Will the MGDCC benefit from unique features of the institutional environment, infrastructure, or personnel?  Are resources available within the scientific environment to support electronic information handling?   

    Additional Review Criteria

    As applicable for the project proposed, reviewers will evaluate the following additional items while determining scientific and technical merit, and in providing an overall impact score, but will not give separate scores for these items.

    Protections for Human Subjects

    For research that involves human subjects but does not involve one of the  categories of research that are exempt under 45 CFR Part 46, the committee will evaluate the justification for involvement of human subjects and the proposed protections from research risk relating to their participation according to the following five review criteria: 1) risk to subjects, 2) adequacy of protection against risks, 3) potential benefits to the subjects and others, 4) importance of the knowledge to be gained, and 5) data and safety monitoring for clinical trials.

    For research that involves human subjects and meets the criteria for one or more of the  categories of research that are exempt under 45 CFR Part 46, the committee will evaluate: 1) the justification for the exemption, 2) human subjects involvement and characteristics, and 3) sources of materials. For additional information on review of the Human Subjects section, please refer to the Guidelines for the Review of Human Subjects.

    Inclusion of Women, Minorities, and Individuals Across the Lifespan 

    When the proposed project involves human subjects and/or NIH-defined clinical research, the committee will evaluate the proposed plans for the inclusion (or exclusion) of individuals on the basis of sex/gender, race, and ethnicity, as well as the inclusion (or exclusion) of individuals of all ages (including children and older adults) to determine if it is justified in terms of the scientific goals and research strategy proposed. For additional information on review of the Inclusion section, please refer to the Guidelines for the Review of Inclusion in Clinical Research.

    Vertebrate Animals

    The committee will evaluate the involvement of live vertebrate animals as part of the scientific assessment according to the following criteria: (1) description of proposed procedures involving animals, including species, strains, ages, sex, and total number to be used; (2) justifications for the use of animals versus alternative models and for the appropriateness of the species proposed; (3) interventions to minimize discomfort, distress, pain and injury; and (4) justification for euthanasia method if NOT consistent with the AVMA Guidelines for the Euthanasia of Animals. Reviewers will assess the use of chimpanzees as they would any other application proposing the use of vertebrate animals. For additional information on review of the Vertebrate Animals section, please refer to the Worksheet for Review of the Vertebrate Animal Section.

    Biohazards

    Reviewers will assess whether materials or procedures proposed are potentially hazardous to research personnel and/or the environment, and if needed, determine whether adequate protection is proposed.

    Resubmissions

    Not Applicable

    Renewals

    Not Applicable

    Revisions

    Not Applicable

    Additional Review Considerations

    As applicable for the project proposed, reviewers will consider each of the following items, but will not give scores for these items, and should not consider them in providing an overall impact score.

    Applications from Foreign Organizations

    Reviewers will assess whether the project presents special opportunities for furthering research programs through the use of unusual talent, resources, populations, or environmental conditions that exist in other countries and either are not readily available in the United States or augment existing U.S. resources.

    Select Agent Research

    Reviewers will assess the information provided in this section of the application, including 1) the Select Agent(s) to be used in the proposed research, 2) the registration status of all entities where Select Agent(s) will be used, 3) the procedures that will be used to monitor possession use and transfer of Select Agent(s), and 4) plans for appropriate biosafety, biocontainment, and security of the Select Agent(s).

    Resource Sharing Plans

    Reviewers will comment on whether the following Resource Sharing Plans, or the rationale for not sharing the following types of resources, are reasonable: (1) Data Sharing Plan; (2) Sharing Model Organisms; and (3)  Genomic Data Sharing Plan (GDS).

    Authentication of Key Biological and/or Chemical Resources:

    For projects involving key biological and/or chemical resources, reviewers will comment on the brief plans proposed for identifying and ensuring the validity of those resources.

    Budget and Period of Support

    Reviewers will consider whether the budget and the requested period of support are fully justified and reasonable in relation to the proposed research.

    2. Review and Selection Process

    Applications will be evaluated for scientific and technical merit by (an) appropriate Scientific Review Group(s) convened by NHGRI, in accordance with NIH peer review policy and procedures, using the stated review criteria. Assignment to a Scientific Review Group will be shown in the eRA Commons.

    As part of the scientific peer review, all applications:

    • May undergo a selection process in which only those applications deemed to have the highest scientific and technical merit (generally the top half of applications under review) will be discussed and assigned an overall impact score.

    Will receive a written critique.

    Appeals of initial peer review will not be accepted for applications submitted in response to this FOA.

    Applications will be assigned to the appropriate NIH Institute or Center. Applications will compete for available funds with all other recommended applications submitted in response to this FOA. Following initial peer review, recommended applications will receive a second level of review by the National Advisory Council for Human Genome Research. The following will be considered in making funding decisions:

    • Scientific and technical merit of the proposed project as determined by scientific peer review.
    • Availability of funds.
    • Relevance of the proposed project to program priorities.
    • Compliance with resource sharing policies as appropriate.
    • Independence from investigators and institutions funded under the MGRCs in response to RFA-HG-20-007.
    3. Anticipated Announcement and Award Dates

    After the peer review of the application is completed, the PD/PI will be able to access his or her Summary Statement (written critique) via the eRA Commons. Refer to Part 1 for dates for peer review, advisory council review, and earliest start date.

    Information regarding the disposition of applications is available in the NIH Grants Policy Statement.

    Section VI. Award Administration Information
    1. Award Notices

    If the application is under consideration for funding, NIH will request "just-in-time" information from the applicant as described in the NIH Grants Policy Statement.

    A formal notification in the form of a Notice of Award (NoA) will be provided to the applicant organization for successful applications. The NoA signed by the grants management officer is the authorizing document and will be sent via email to the grantee’s business official.

    Awardees must comply with any funding restrictions described in Section IV.5. Funding Restrictions. Selection of an application for award is not an authorization to begin performance. Any costs incurred before receipt of the NoA are at the recipient's risk. These costs may be reimbursed only to the extent considered allowable pre-award costs.

    Any application awarded in response to this FOA will be subject to terms and conditions found on the Award Conditions and Information for NIH Grants website.  This includes any recent legislation and policy applicable to awards that is highlighted on this website.

    Institutional Review Board or Independent Ethics Committee Approval: Grantee institutions must ensure that protocols are reviewed by their IRB or IEC. To help ensure the safety of participants enrolled in NIH-funded studies, the awardee must provide NIH copies of documents related to all major changes in the status of ongoing protocols.

    2. Administrative and National Policy Requirements

    All NIH grant and cooperative agreement awards include the NIH Grants Policy Statement as part of the NoA. For these terms of award, see the NIH Grants Policy Statement Part II: Terms and Conditions of NIH Grant Awards, Subpart A: General  and Part II: Terms and Conditions of NIH Grant Awards, Subpart B: Terms and Conditions for Specific Types of Grants, Grantees, and Activities. More information is provided at Award Conditions and Information for NIH Grants.

    Recipients of federal financial assistance (FFA) from HHS must administer their programs in compliance with federal civil rights law. This means that recipients of HHS funds must ensure equal access to their programs without regard to a person’s race, color, national origin, disability, age and, in some circumstances, sex and religion. This includes ensuring your programs are accessible to persons with limited English proficiency.  HHS recognizes that research projects are often limited in scope for many reasons that are nondiscriminatory, such as the principal investigator’s scientific interest, funding limitations, recruitment requirements, and other considerations. Thus, criteria in research protocols that target or exclude certain populations are warranted where nondiscriminatory justifications establish that such criteria are appropriate with respect to the health or safety of the subjects, the scientific study design, or the purpose of the research.

    For additional guidance regarding how the provisions apply to NIH grant programs, please contact the Scientific/Research Contact that is identified in Section VII under Agency Contacts of this FOA. HHS provides general guidance to recipients of FFA on meeting their legal obligation to take reasonable steps to provide meaningful access to their programs by persons with limited English proficiency. Please see https://www.hhs.gov/civil-rights/for-individuals/special-topics/limited-english-proficiency/index.html. The HHS Office for Civil Rights also provides guidance on complying with civil rights laws enforced by HHS. Please see https://www.hhs.gov/civil-rights/for-individuals/section-1557/index.html; and https://www.hhs.gov/civil-rights/for-providers/laws-regulations-guidance/index.html.  Recipients of FFA also have specific legal obligations for serving qualified individuals with disabilities. Please see https://www.hhs.gov/civil-rights/for-individuals/disability/index.html. Please contact the HHS Office for Civil Rights for more information about obligations and prohibitions under federal civil rights laws at https://www.hhs.gov/ocr/about-us/contact-us/index.html or call 1-800-368-1019 or TDD 1-800-537-7697. Also note it is an HHS Departmental goal to ensure access to quality, culturally competent care, including long-term services and supports, for vulnerable populations. For further guidance on providing culturally and linguistically appropriate services, recipients should review the National Standards for Culturally and Linguistically Appropriate Services in Health and Health Care at http://minorityhealth.hhs.gov/omh/browse.aspx?lvl=2&lvlid=53.

    In accordance with the statutory provisions contained in Section 872 of the Duncan Hunter National Defense Authorization Act of Fiscal Year 2009 (Public Law 110-417), NIH awards will be subject to the Federal Awardee Performance and Integrity Information System (FAPIIS) requirements.  FAPIIS requires Federal award making officials to review and consider information about an applicant in the designated integrity and performance system (currently FAPIIS) prior to making an award.  An applicant, at its option, may review information in the designated integrity and performance systems accessible through FAPIIS and comment on any information about itself that a Federal agency previously entered and is currently in FAPIIS.  The Federal awarding agency will consider any comments by the applicant, in addition to other information in FAPIIS, in making a judgement about the applicant’s integrity, business ethics, and record of performance under Federal awards when completing the review of risk posed by applicants as described in 45 CFR Part 75.205 “Federal awarding agency review of risk posed by applicants.”  This provision will apply to all NIH grants and cooperative agreements except fellowships.

    Cooperative Agreement Terms and Conditions of Award

    The following special terms of award are in addition to, and not in lieu of, otherwise applicable U.S. Office of Management and Budget (OMB) administrative guidelines, U.S. Department of Health and Human Services (DHHS) grant administration regulations at 45 CFR Part 75, and other HHS, PHS, and NIH grant administration policies.

    The administrative and funding instrument used for this program will be the cooperative agreement, an "assistance" mechanism (rather than an "acquisition" mechanism), in which substantial NIH programmatic involvement with the awardees is anticipated during the performance of the activities.?Under the cooperative agreement, the NIH purpose is to support and stimulate the recipients' activities by involvement in and otherwise working jointly with the award recipients in a partnership role; it is not to assume direction, prime responsibility, or a dominant role in the activities.?Consistent with this concept, the dominant role and prime responsibility resides with the awardees for the project as a whole, although specific tasks and activities may be shared among the awardees and the NIH as defined below.

    The PD(s)/PI(s) will have the primary responsibility for:

    • Determining research approaches, designing protocols, setting project milestones, and conducting research.
    • Ensuring detailed genomic, phenotypic, family history, clinical, and related data are disseminated through databases such as?AnVIL,?dbGaP, and?ClinVar.
    • Preparing abstracts, presentations and publications and collaborating consortium-wide in making the public and professionals aware of the program.
    • Assessing and disseminating data, protocols, consent materials, and methods developed for or derived from the MGRCs within and outside the Consortium.
    • Adhering to policies regarding data access, publication, and intellectual property established by the NIH and the Mendelian Genomics Research Consortium Steering Committee.
    • Abiding by common definitions, protocols, and procedures, as chosen by majority vote of the Steering Committee.
    • Submitting periodic progress reports in a standard format, as agreed upon by NIH and the Steering Committee 
    • Attending and participating in Steering Committee and other working group meetings and accepting and implementing decisions made by these groups.
    • Ensuring their site receives the appropriate approvals for sharing of data with the MGRCs and selected data repositories such as?AnVIL,?dbGaP, and?ClinVar.
    • Data/software ownership and transition to another grantee:
    • A fundamental objective of this cooperative agreement is to ensure that the valuable data, products, and resources provided by the MGDCC remain available without interruption to the research community if awardee withdraws or otherwise can no longer manage the resource or the award is terminated by the NIH.
    • Consistent with 45 C.F.R. 75.322, the awardee will own the data generated and software developed by the awardee, and it will be able to continue to use these data and software upon expiration or termination of the award. NIH will have unrestricted cost-free access and use of the data, resources and software generated by the awardee, including the right to transfer said data and/or software to other NIH-funded and/or managed resource projects, at the NIH's sole reasonable discretion upon termination or expiration of this cooperative agreement.
    • Ownership of the data and software that may be hosted (but not created) by the MGDCC remains with the data and software providers.
    • Open Source Technology: Capabilities and software built as part of the Mendelian Genomics Research Consortium must be delivered under an open source model. Organizations may propose to use proprietary platforms, so long as the requirements for data transparency and interoperability are maintained.
    • Awardees will retain custody of and have primary rights to the data and software developed under these awards, subject to Government rights of access consistent with current DHHS, PHS, and NIH policies.

    NIH staff have substantial programmatic involvement that is above and beyond the normal stewardship role in awards, as described below:

    The Project Scientist(s) will have substantial scientific and programmatic involvement during the conduct of this activity through technical assistance, advice, and coordination.? However, the role of NIH staff will be to facilitate and not to direct the activities.? It is anticipated that decisions in all activities will be reached by consensus of the Mendelian Genomics Research Consortium, and that NIH staff will be given the opportunity to offer input to this process.?The Project Scientist(s) will participate as members of the Steering Committee and will have one vote.?

    The Project Scientist(s) will have the following substantial involvement:

    • Participating with the other Steering Committee members in addressing issues that arise with planning, operation, assessment, and data analysis.? The Project Scientist(s) will assist and facilitate the group process and not direct it.
    • Serving as a liaison, helping to coordinate activities, including acting as a liaison to other NIH Institutes/Centers, and as an information resource for the awardees. The Project Scientist(s) will also help coordinate the efforts of the Consortium with other groups conducting similar efforts.
    • Attending all Steering Committee meetings as a voting member and all Working Group meetings, assisting in developing operating guidelines, quality control procedures, and consistent policies for dealing with situations that require coordinated action. 
    • Reporting periodically on Consortium progress to the National Advisory Council of Human Genome Research Institute.
    • Assisting awardees in the development, if needed, of policies for dealing with situations that require coordinated action.
    • Providing advice in the management and technical performance of the award.
    • Assisting in promoting the availability of the data and related resources developed in the course of this program to the scientific community at large. ?
    • Participating in data analyses, interpretations, and, where warranted, co-authorship of the publication of results of studies conducted through the program. ?
    • Serve as a liaison between the awardees and the External Scientific Panel and the National Advisory Council for Human Genome Research.
    • Lend relevant expertise and overall knowledge of NHGRI-sponsored research to facilitate the selection of scientists not affiliated with the awardee institutions who are to serve on the External Scientific Panel.
    • Serve on subcommittees of the Steering Committee, Working Groups, and the External Scientific Panel, as appropriate.
    • Additionally, an agency program official or IC program director will be responsible for the normal scientific and programmatic stewardship of the award and will be named in the award notice.
    • The Program Official may withhold or reduce support from any awardee that fails to achieve its goals or comply with the Terms and Conditions of Award.
    • Other NHGRI staff may assist the awardee as designated by the Program Official.?
    • The assigned program director may also serve as an NHGRI Project Scientist.

    Dispute Resolution:

    Any disagreements that may arise in scientific or programmatic matters (within the scope of the award) between award recipients and the NIH may be brought to Dispute Resolution. A Dispute Resolution Panel composed of three members will be convened. It will have three members: a designee of the Steering Committee chosen without NIH staff voting, one NIH designee, and a third designee with expertise in the relevant area who is chosen by the other two; in the case of individual disagreement, the first member may be chosen by the individual awardee. This special dispute resolution procedure does not alter the awardee's right to appeal an adverse action that is otherwise appealable in accordance with PHS regulation 42 CFR Part 50, Subpart D and DHHS regulation 45 CFR Part 16.

    Areas of Joint Responsibility include:

    The Mendelian Genomics Data Coordination Center will be required to interact closely with the MGRCs and with NIH staff in order to fully achieve the goals of the Mendelian Genomics Research Consortium. 

    The MGDCC will also be expected to work closely with the MGRCs to establish data formats and standards, to track and catalog collaborations and incoming samples, report findings, and coordinate the transfer of sequence, variant, and phenotypic data to the MGDCC.

    A Steering Committee will be the main governing body of the Mendelian Genomics Research Consortium. The Steering Committee will be composed of the PD/PI(s) from each of the funded MGRCs and the MGDCC, and NIH program staff. In addition to the PD(s)/PI(s), key personnel from each MGRC, including pre- and post-doctoral trainees, will be eligible to attend Steering Committee meetings. The Steering Committee will establish subcommittees or working groups, in order to facilitate collaborative work and standardize approaches, or to achieve other goals of the Consortium. The MGRCs and MGDCC will be expected to play an active role in these working groups, which may include (but are not limited to) groups focused on specific cross-consortium activities, such as analysis of unsolved cases, variant interpretation, functional follow-up, outreach and education, or international data sharing. The Steering Committee will also help define and prioritize research needs to be supported through the Opportunity Fund.

    NHGRI and the grantees will work with and provide information to an External Scientific Panel (ESP). The ESP will be responsible for reviewing and evaluating the progress of the members of the Mendelian Genomics Research Consortium toward meeting their individual and collective goals. The ESP will provide recommendations to the Director, Division of Genome Sciences and Director, NHGRI. The ESP is composed of four to six senior scientists with relevant expertise who are not P.I.s of a cooperative agreement involved in the Consortium. The membership of the ESP may be enlarged permanently or on an ad hoc basis as needed.

    The ESP will meet at least once a year. During part of this meeting, there will be a joint meeting with the Steering Committee to allow the ESP members to interact directly with the awardees. The ESP will make recommendations regarding progress of the Consortium and present advice about changes, if any, which may be necessary in the Consortium to the Director, Division of Genome Sciences and Director, NHGRI.

    3. Reporting

    When multiple years are involved, awardees will be required to submit the Research Performance Progress Report (RPPR) annually and financial statements as required in the NIH Grants Policy Statement.

    A final RPPR, invention statement, and the expenditure data portion of the Federal Financial Report are required for closeout of an award, as described in the NIH Grants Policy Statement.

    The Federal Funding Accountability and Transparency Act of 2006 (Transparency Act), includes a requirement for awardees of Federal grants to report information about first-tier subawards and executive compensation under Federal assistance awards issued in FY2011 or later.  All awardees of applicable NIH grants and cooperative agreements are required to report to the Federal Subaward Reporting System (FSRS) available at www.fsrs.gov on all subawards over $25,000.  See the NIH Grants Policy Statement for additional information on this reporting requirement.

    In accordance with the regulatory requirements provided at 45 CFR 75.113 and Appendix XII to 45 CFR Part 75, recipients that have currently active Federal grants, cooperative agreements, and procurement contracts from all Federal awarding agencies with a cumulative total value greater than $10,000,000 for any period of time during the period of performance of a Federal award, must report and maintain the currency of information reported in the System for Award Management (SAM) about civil, criminal, and administrative proceedings in connection with the award or performance of a Federal award that reached final disposition within the most recent five-year period.  The recipient must also make semiannual disclosures regarding such proceedings. Proceedings information will be made publicly available in the designated integrity and performance system (currently FAPIIS).  This is a statutory requirement under section 872 of Public Law 110-417, as amended (41 U.S.C. 2313).  As required by section 3010 of Public Law 111-212, all information posted in the designated integrity and performance system on or after April 15, 2011, except past performance reviews required for Federal procurement contracts, will be publicly available.  Full reporting requirements and procedures are found in Appendix XII to 45 CFR Part 75 – Award Term and Conditions for Recipient Integrity and Performance Matters.

    Section VII. Agency Contacts

    We encourage inquiries concerning this funding opportunity and welcome the opportunity to answer questions from potential applicants.

    Application Submission Contacts

    eRA Service Desk (Questions regarding ASSIST, eRA Commons, application errors and warnings, documenting system problems that threaten submission by the due date, and post-submission issues)

    Finding Help Online: http://grants.nih.gov/support/ (preferred method of contact)
    Telephone: 301-402-7469 or 866-504-9552 (Toll Free)

    General Grants Information (Questions regarding application instructions, application processes, and NIH grant resources)
    Email: GrantsInfo@nih.gov (preferred method of contact)
    Telephone: 301-945-7573

    Grants.gov Customer Support (Questions regarding Grants.gov registration and Workspace)
    Contact Center Telephone: 800-518-4726
    Email: support@grants.gov

    Scientific/Research Contact(s)

    Chris Wellington
    National Human Genome Research Institute (NHGRI)
    Telephone: 301-480-3496
    Email: wellingtonc@mail.nih.gov

    Peer Review Contact(s)

    Rudy Pozzatti, Ph.D.
    National Human Genome Research Institute (NHGRI)
    Telephone: 301-402-8739
    Email: pozzattr@exchange.nih.gov

    Financial/Grants Management Contact(s)

    Devon Bumbray-Quarles 
    National Human Genome Research Institute (NHGRI)
    Telephone: 301-451-7928
    Email: devon.bumbray-quarles@nih.gov

    Section VIII. Other Information

    Recently issued trans-NIH policy notices may affect your application submission. A full list of policy notices published by NIH is provided in the NIH Guide for Grants and Contracts. All awards are subject to the terms and conditions, cost principles, and other considerations described in the NIH Grants Policy Statement.

    Authority and Regulations

    Awards are made under the authorization of Sections 301 and 405 of the Public Health Service Act as amended (42 USC 241 and 284) and under Federal Regulations 42 CFR Part 52 and 45 CFR Part 75.

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