SOLICITATION NOTICE
Q -- Prevalence and Phenotypic Manifestations of Copy Number Variations
- Notice Date
- 12/18/2012
- Notice Type
- Presolicitation
- NAICS
- 541690
— Other Scientific and Technical Consulting Services
- Contracting Office
- Department of Health and Human Services, National Institutes of Health, National Institute on Drug Abuse, Station Support/Simplified Acquisitions, 31 Center Drive, Room 1B59, Bethesda, Maryland, 20892
- ZIP Code
- 20892
- Solicitation Number
- 2799429
- Archive Date
- 1/11/2013
- Point of Contact
- Jasmine D Snoddy, Phone: 301 594 1571
- E-Mail Address
-
snoddyj@mail.nih.gov
(snoddyj@mail.nih.gov)
- Small Business Set-Aside
- N/A
- Description
- This is a notice, not a request for a proposal. A solicitation document will not be issued and proposals will not be requested. The National Institute on Drug Abuse (NIDA) Station Support/Simplified Acquisition (SS/SA) Branch, on behalf of the National Institute of Mental Health (NIMH)-Child Psychiatry Branch intends to negotiate and award a sole source purchase order to The Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, The Joseph Stokes Jr. Research Institute, 3615 Civic Center Blvd., Room 1216E, Philadelphia, PA 19104-4318 for Prevalence and Phenotypic Manifestations of Copy Number Variations in 16p11.2, 22q11, MYTIL, and NRXN3 across 100,000 Subjects project. The purpose of the project is to determine the range of phenotypic manifestations caused by pathogenic copy number variations (CNVs) arising from duplication of the 16p11.2, 16p12.2 region and deletions of part or all of the MYTIL and NRXN3 genes. About 100,000 samples within the CAG repository, from patients representing a wide spectrum of diseases and/or conditions (including healthy controls), will be screened for the presence of CNVs in these 3 loci. NIM's working hypotheses is that mutations in these loci can have broad impacts on neurological, immunological, and/or other system-wide or organ-specific functions leading to a wide range of medical pathological that have not fully characterized or previously attributed to mutations at these loci. NIMH's findings from the pilot study will provide proof-of-principle to support a follow-up study to explore the role of pathogenic CNVs in many other regions (-200 loci) across the full -150,000 samples in the CAG repository. The NIMH's Child Psychiatry Branch is studying genetic risk factors in childhood onset schizophrenia. These children are severely ill and most had a variety of cognitive and motor abnormalities before they became psychotic. One major finding of this project is the higher rate of rare chromosomal copy number variants (CNVs) in this population compared to that seen in the general population. The rate for 22q11, 16p11 abd 2p53 were particularly high for childhood sample, and was also higher than that seen in adult onset schizophrenia. The period of performance is for 12 months. The CAG is the only existing source for a pediatric population study involving genetic measures and clinical phenotyping. There is over 100,000 subject ages 0-21 with existing records and DNA samples. These samples are from ill and healthy subjects. The acquisition is being conducted under simplified acquisition using FAR 12 procedures and falls under FAR 6.302-1. This notice if intent is not a request for competitive proposals. Interested parties may identify their and capabilities in response to this synopsis. The determination by the Government not to compete the proposed contract based upon responses to this notice is solely with the discretion of the Government. Comments to this announcement, referencing synopsis number 2799429 may be submitted to the NIDA, Station Support/Simplified Acquisition Branch, 31 Center Drive, Room 1B59, Bethesda, Maryland 20892-2080 and Attention: Jasmine Snoddy, Contract Specialist.
- Web Link
-
FBO.gov Permalink
(https://www.fbo.gov/spg/HHS/NIH/NIDA-2/2799429/listing.html)
- Place of Performance
- Address: Bethesda, Maryland, 20892, United States
- Zip Code: 20892
- Zip Code: 20892
- Record
- SN02951068-W 20121220/121218234409-752bedc59d0662b492749d9192c16331 (fbodaily.com)
- Source
-
FedBizOpps Link to This Notice
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