SOLICITATION NOTICE
B -- Functional Analyses for a compound heterozygous ACER3 mutation
- Notice Date
- 9/3/2015
- Notice Type
- Presolicitation
- NAICS
- 541712
— Research and Development in the Physical, Engineering, and Life Sciences (except Biotechnology)
- Contracting Office
- Department of Health and Human Services, National Institutes of Health, National Heart, Lung and Blood Institute, Rockledge Dr. Bethesda, MD, Office of Acquisitions, 6701 Rockledge Dr RKL2/6100 MSC 7902, Bethesda, Maryland, 20892-7902
- ZIP Code
- 20892-7902
- Solicitation Number
- HHS-NIH-NHLBI-CSB-(HG)-2015-247-DLM
- Archive Date
- 9/25/2015
- Point of Contact
- Dorothy Maxwell, Phone: 301-435-0352
- E-Mail Address
-
maxwelld@mail.nih.gov
(maxwelld@mail.nih.gov)
- Small Business Set-Aside
- N/A
- Description
- INTRODUCTION: THIS IS A PRE-SOLICITATION NON-COMPETITIVE (NOTICE OF INTENT) SYNOPSIS TO AWARD A CONTRACT WITHOUT PROVIDING FOR FULL OR OPEN COMPETITION (INCLUDING BRAND-NAME). THIS IS A NOTICE OF INTENT, NOT A REQUEST FOR A PROPOSAL. A SOLICITATION DOCUMENT WILL NOT BE ISSUED AND PROPOSALS WILL NOT BE REQUESTED. The National Heart, Lung, and Blood Institute (NHLBI) Office of Acquisition (OA) on behalf of the National Human Genome Research Institute, (NHGRI), intends to negotiate and award a purchase order on a noncompetitive sole source basis without providing for full and open competition to Stony Brook School of Medicine to procure the following: Procurement : To conduct functional analyses of the mutations found in the alkaline ceramidase 3 (ACER3) gene of the patient who ACER3 is a member in the alkaline ceramidase family which plays an important role in regulating the homeostasis of sphingolipids in a tissue-specific manner by catalyzing the hydrolysis of ceramides, the precursors of complex sphingolipids, in cells. Proposed Specific Aims : • Aim 1: To determine if ACER3 enzymatic activity was lost in the cells and tissues collected from the patient. • Aim 2: To determine if the levels of sphingolipids, including ceramides, dihydroceramides, sphingosine, dihydrosphingosine, sphingosine-1-phosphate, sphingomyelins, monohexosylceramides, and lactosylceramides, were altered in skin fibroblasts from the patient compared to those from healthy individuals. • Aim 3: To determine if overexpression of the mutant ACER3 protein cannot restore alkaline ceramidase activity in the yeast mutant strain deficient in endogenous alkaline ceramidase activity or in mouse embryonic fibroblast cells (MEFs) deficient in the mouse Acer3 gene. Background: The National Institutes of Health (NIH) mission is to seek fundamental knowledge about the nature and behavior of living systems and the application of that knowledge to enhance health, lengthen life, and reduce illness and disability. The National Human Genome Research Institute (NHGRI) mission has expanded to encompass a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. To that end NHGRI supports the development of resources and technology that will accelerate genome research and its application to human health. NHGRI Undiagnosed Disease Program (UDP) is a trans-National Institute of Health (NIH) initiative that focuses on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, MD. Many medical specialties from other NIH research centers and institutes contribute the expertise needed to conduct the program, including endocrinology, immunology, oncology, dermatology, dentistry, cardiology and genetics, among the dozens of participating senior attending physicians. A longstanding medical condition that eludes diagnosis by a referring physician can be considered undiagnosed and may be of interest to this clinical research program. Purpose and Objective : The purpose of this acquisition is to provide functional analysis for a compound heterozygous ACER3 mutation seen in an NIH Undiagnosed Diseases Program patient. Specifically, this laboratory supports the research needs of the UDP by collaborating on particular clinically identified new and rare patient disease. The laboratory of Dr. Cungui from The State University of New York at Stony Brook, Department of Medicine will perform analyses on the enzymatic activity of ACER3 in the patient cells and tissues, determine the level of sphingolipids present in the patient fibroblast samples in reference to unaffected samples, and overexpress mutant ACER3 in yeast or mouse embryonic fibroblast cells (MEFs) to view ceramidase activity. This work will continue to support the UDP by providing functional analysis of suspected gene mutations to determine how they generate the unique disease phenotype seen in UDP patients. Justification: The laboratory of Dr. Cungui Mao at the State University of New York at Stony Brook was the first to identify and clone three human alkaline ceramidases (ACER1, ACER2, and ACER3). The laboratory specializes in functional studies pertaining to the aklanine ceramidases and has been studying these enzymes for a period of over 10 years. Dr. Mao has expertise in generating mutation overexpression yeast and mouse model organisms that are devised to perform functional studies to determine restoration of ceramaidase activity. Dr. Mao laboratory is currently focusing on the role that these genes have in tumorigenesis, angiogenesis, and modulation of anti-cancer activity of chemotherapeutic agents. Additionally, Dr. Cungui Mao laboratory has identified 2 members in the alkaline ceramidase family in yeast cells and uses these perform biochemical and genetic functional studies on the human ortholog. The knowledge gained from her ongoing studies will assist the UDP in providing patient specific functional analysis to elucidate the disease in the UDP patient. Scope of Work: • The contractor shall perform enzymatic activity studies on the UDP patient cells and tissues to determine the ACER3 activity. • The contractor shall determine the activity levels of sphingolipids, including ceramides, dihydroceramides, sphingosine, diydrosphingosine, sphogomyelins, sphingosine-1-phosphate, monohexosylceramides, and lactosylceramides in patient fibroblasts. • The contractor shall determine the differences of sphingolipid levels including various ceramides, in reference to fibroblasts obtained from healthy individuals. • The contractor shall overexpress the UDP patient ACER3 mutation in yeast or mouse embryonic fibroblast cells (MEFs) to determine if alkaline ceramidase activity can be restored. • The contractor shall supply electronic copies of all reports appropriate for deposition in the UDP process management system and for other collaborations. Period of Performance : 12-Months; Upon Receipt of Award. Place of Performance : The work will be performed at The State University of New York at Stony Brook, School of Medicine. Deliverables: The Contractor will provide a report on analysis to the Government. Regulatory Authority : This acquisition is conducted under the authority of the Federal Acquisition Regulations (FAR) Subpart 13.106-1(b) Soliciting from a single source, only one responsible source and no other supplies or services will satisfy agency requirements. Additional Information: Industry Classification (NAICS) Code is 541712, Research and Development in the Physical, Engineering, and Life Sciences (except Biotechnology), and the Small Business Size Standard is 500. The acquisition is being conducted under FAR Part 13, simplified acquisition procedures, therefore the requirements of FAR Part 6 B Competitive Requirements are not applicable (FAR Part 6.001). The resultant Contract will include all applicable provisions and clauses in effect through the Federal Acquisition Circular (FAC) 05-84 (September 3, 2015). This requirement is under the SAT of $150,000.00. This synopsis is not a request for competitive proposals. However, interested parties may identify their interest and capability to respond to this notice. Responses to this notice shall contain sufficient information to establish the interested parties' bona-fide capabilities for fulfilling the requirement and include: unit price, list price, shipping and handling costs, the delivery period after contract award, the prompt payment discount terms, the F.O.B. Point (Destination or Origin), the Dun & Bradstreet Number (DUNS), the Taxpayer Identification Number (TIN), and the certification of business size. All offerors must have an active registration in the System for Award Management (SAM) www.sam.gov." A determination by the Government not to compete this proposed contract based upon responses to this notice is solely within the discretion of the Government. The information received will normally be considered solely for the purposes of determining whether to proceed on a non-competitive basis or to conduct a competitive procurement. All responses must be received by September 10, 2015 and must reference synopsis number HHS-NIH-NHLBI-CSB-(HG)-2015-247-DLM, may be submitted to the National, Heart, Lung and Blood Institute, Office of Acquisition, COAC Services Branch, 6701 Rockledge Drive, Suite 6149, Bethesda, Maryland 20892-7902, Attention: Dorothy Maxwell. Response may be submitted electronically to maxwelld@mail.nih.gov. Faxes will not be accepted. Responses will only be accepted if dated and signed by an authorized company representative. "All responsible sources may submit a bid, proposal, or quotation which shall be considered by the agency."
- Web Link
-
FBO.gov Permalink
(https://www.fbo.gov/spg/HHS/NIH/NHLBI/HHS-NIH-NHLBI-CSB-(HG)-2015-247-DLM/listing.html)
- Place of Performance
- Address: Contractor's Location, United States
- Record
- SN03870871-W 20150905/150904000301-0989f7d84349186eba766332059b35ba (fbodaily.com)
- Source
-
FedBizOpps Link to This Notice
(may not be valid after Archive Date)
| FSG Index | This Issue's Index | Today's FBO Daily Index Page |