attachment 1_sow_remmers.docx

STATEMENT OF WORK (SOW)

Specialized bioinformatics analyses of human genomic data

Background:

The National Institutes of Health (NIH) is the nation’s leading medical research agency and the primary Federal agency conducting and supporting medical discoveries that improve people’s health and save lives. The National Human Genome Research Institute (NHGRI) vision is to improve the health of all humans through advances in genomics research. The mission of NHGRI as a leading authority in the field of genomics is to accelerate scientific and medical breakthroughs that improve human health. We do this by driving cutting-edge research, developing new technologies, and studying the impact of genomics on society. The mission of the Inflammatory Disease Section (IDS) of the Metabolic, Cardiovascular and Inflammatory Disease Branch (MCIDGB) of the NHGRI Division of Intramural Research is to discover the genomic basis, pathophysiology, and novel treatments for severe autoinflammatory diseasses.

Dr. Remmers will perform highly specialized bioinformatics analyses of human genomic data for the Inflammatory Disease Section (IDS) of the Metabolic, Cardiovascular and Inflammatory Disease Branch (MCIDGB) of the NHGRI Division of Intramural Research. The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and social determinants of complex diseases. Dr. Remmers’ responsibilities will include the analysis of whole exome and whole genome sequence data from families with early onset scleroderma, a project that is already in progress, and that requires a thorough knowledge of the cases that have been sequenced and a good working relationship with collaborators in Pittsburgh, Seattle, and Padua and with the staff of the Scleroderma Research Foundation. Dr. Remmers will also be responsible for the design and analysis of a genome-wide association study of the syndrome of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA), directly comparing PFAPA susceptibility loci with those Dr. Remmers identified for Behçet’s disease between 2010 and 2020. Dr. Remmers will be responsible for the training of junior members of the IDS and collaborating Assistant Clinical Investigators in the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Institute of Allergy and Infectious Diseases (NIAID), including the analysis of massively parallel short-read genomic sequence data and the analysis of single-nucleotide polymorphisms and genome-wide association studies. Finally, Dr. Remmers will be responsible for the preparation of manuscripts describing the results of the various projects she conducts or oversees.

Purpose and Objectives for the Procurement:

The purpose of this procurement is for bioinformatics services that require a high degree of specialized knowledge regarding the patient populations studied by the IDS, the specific methods of analysis, previous studies conducted by the IDS, and the NIH and non-NIH investigators with whom the IDS collaborates.

Period of Performance:

Upon award with a base plus four options to February 2024 (three-months each) Option 1 @ 288 Hours 11/01/22-02/28/23 Option 2 @ 280 Hours 03/01/23-06/30/23 Option 3 @ 280 Hours 07/01/23-10/31/23 Option 4 @ 272 Hours 11/01/23-02/29/24

Place of Performance:

Either in the NIH Clinical Cneter or at Contractor’s worksite.

Procurement:

1. To provide to perform highly specialized bioinformatics analyses of human genomic data for the Inflammatory Disease Section (IDS) for NIH/NHGRI.

Base Year: 312 Hours Upon award to October 2022 Option 1 @ 288 Hours 11/01/22-02/28/23 Option 2 @ 280 Hours 03/01/23-06/30/23 Option 3 @ 280 Hours 07/01/23-10/31/23 Option 4 @ 272 Hours 11/01/23-02/29/24

Contractor Requirements:

During the base period and the first option period Dr. Remmers will focus on trios and small families in which at least one member has scleroderma or morphea. During the second option period Dr. Remmers will study candidate variants identified during the base and first option period in confirmation cohorts. During the third and fourth option periods Dr. Remmers will perform genome wide association studies designed to identify loci associated with susceptibility to the syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitits (PFAPA).

Specific Tasks to be performed by Contractor:

· The Contractor shall oversee the receipt and storage of all relevant clinical samples obtained at the NIH or through collaborators.

· The Contractor shall oversee the extraction of DNA from peripheral blood leukocytes or from buccal samples, and the appropriate aliquoting and quality control.

· The Contractor shall oversee the transfer of DNA specimens to sequencing and genotyping facilities.

· The Contractor shall perform bioinformatic analyses of whole exome and whole genome sequence data.

· The Contractor shall perform association analyses of genomic polymorphisms in PFAPA and control samples.

· The Contractor shall perform bioinformatic analyses of putative associated or causative variants.

· The Contractor shall oversee confirmatory functional studies.

Government Responsibilities:

· The Government will provide the Contractor: desktop computer, technical support and NIH Network connectivity for the services to be provided, laboratory equipment and supplies for laboratory studies.

· The Government will review and approve invoices.

Reporting Requirements and Deliverables:

· The Contractor shall provide reports, and progress of the work. This will include regular presentations at IDS lab meetings and MCIDGB meetings, written abstracts for major genetics and rheumatology meetings, and publications in medical/scientific journals

· The Contractor shall participate in meetings or participate in teleconferences as needed.

Program Management and Control Requirements:

The Contractor shall work independently with no direct supervision by any government employee.

Safety Issues:

Work is performed in a laboratory setting there are no known safety issues.

Government-Furnished Equipment and or Facilities Provided:

The Government will provide the Contractor: workspace, computer, telephone and other electronic equipment as well as all laboratory equipment and supplies needed to perform task.

Security Clearance:

The Contractor shall comply with all applicable HHS and NIH Security regulations and procedures during the performance of this Purchase Order. The Contractor shall not disclose and must safeguard procurement sensitive information, computer systems and data, Privacy Act data, and Government personnel work products that are obtained or generated in the performance of this requirement and award.