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MOLECULAR BASIS OF DIAMOND-BLACKFAN ANEMIA

Award Number: R01HL079567
ORGANIZATION: NATIONAL HEART, LUNG, & BLOOD INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 09/30/2004
PERIOD OF PERFORMANCE END DATE: 07/31/2008

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MOLECULAR BASIS OF DIAMOND-BLACKFAN ANEMIA - DESCRIPTION (provided by applicant): The long term objectives of this application are; i) to better understand the basic molecular pathology behind Diamond-Blackfan anemia (DBA), and ii) to develop a novel treatment modality for DBA. The first objective will be achieved using ribosomal protein (RP) S19, its messenger RNA (mRNA) and, its gene. RPS19 is found mutant in 25% of patients with DBA but the mechanisms by which RPS19 acts remain unknown. Specifically, the project aim at the identification of factors interacting with RPS19 and/or its mRNA. In vitro transcribed RPS19 mRNA will be analyzed for its interacting partners in erythroid and myeloid cell lines. A system will also be used to identify and isolate specific RPS19 interacting proteins or RNAs after chemical cross linking in UT-7 and K562 cells. An established system will also be used to study the effect of mutant RPS19 on splicing in erythroid cell lines. Factors interacting with RPS19 or its mRNA may clarify the pathway through which a mutant RPS19 mediates DBA and possibly other bone marrow failure syndromes. Such newly identified pathways may also serve as targets for future therapeutic intervention. For novel treatment modalities, a mouse model for DBA with a disrupted Rps19 gene will be subject to gene transfer. Erythroid precursor cells (Lin-, c-kit+) from the Rps19+/- mice are isolated and transduced with a Rps19-GFP lentiviral construct. Cells expressing Rps19 are re-introduced and the effect on erythroid cell production, Rps19 expression and general health/growth of mice will be monitored in vivo. The project will use an ideal environment and expertise to achieve these objectives. The expected results will help to shed light on mechanisms regulating erythropoiesis as well as to improve the outcome of patients with DBA.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2007 ( Subtotal = $153,605 )
2007	2007	UNIVERSITY OF UPPSALA	**	UPPSALA		00000		SWE	Blood Diseases and Resources Research	000	4	7/23/2007	NON-COMPETING CONTINUATION	$153,605
														Subtotal = $153,605

Issue Date FY: 2006 ( Subtotal = $158,193 )
2006	2006	UNIVERSITY OF UPPSALA	**	UPPSALA		00000		SWE	Blood Diseases and Resources Research	000	3	8/24/2006	NON-COMPETING CONTINUATION	$158,193
														Subtotal = $158,193

Issue Date FY: 2005 ( Subtotal = $162,000 )
2005	2005	UNIVERSITY OF UPPSALA	**	UPPSALA		00000		SWE	Blood Diseases and Resources Research	000	2	8/1/2005	NON-COMPETING CONTINUATION	$162,000
														Subtotal = $162,000

Issue Date FY: 2004 ( Subtotal = $162,000 )
2004	2004	UNIVERSITY OF UPPSALA	**	UPPSALA		00000		SWE	Blood Diseases and Resources Research	000	1	9/24/2004	NEW	$162,000
														Subtotal = $162,000

Grand Total All Awards = $635,798

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MOLECULAR BASIS OF DIAMOND-BLACKFAN ANEMIA

Award Number: R01HL079567

ORGANIZATION: NATIONAL HEART, LUNG, & BLOOD INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 09/30/2004

PERIOD OF PERFORMANCE END DATE: 07/31/2008

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