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ANALYSIS OF THE FUNCTIONAL IMPACT OF CODING REGION SNPS

Award Number: R01LM007174
ORGANIZATION: NATIONAL LIBRARY OF MEDICINE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 05/15/2001
PERIOD OF PERFORMANCE END DATE: 04/30/2011

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ANALYSIS OF THE FUNCTIONAL IMPACT OF CODING REGION SNPS - DESCRIPTION (provided by applicant): During the current grant period, we have developed two models of the impact of missense SNPs on protein function in vivo. Through this work, and that of others, we now have a clearer understanding of the molecular mechanisms that lead to monogenic disease. We have also developed a web resource which integrates our results with a large range of other information relevant to disease. Goals for next phase fall into three categories: (1) Exploiting the present results to address basic questions concerning the relationship between genetic variation and disease. Specifically: What is the distribution of mechanisms by which mis-sense SNPs influence protein function; how common are epistatic (non-linear) interactions between SNPs with the same protein molecule and across protein-protein interfaces; what are the characteristics of the approximately 1500 proteins involved in monogenic disease, versus all the others; which SNPs are most significant in directly and indirectly affecting particular biological processes and susceptibility to common diseases? (2) Improving and extending SNP analysis methods, both to obtain a more extensive and reliable set of deleterious mis-sense SNPs, and to include analysis of SNPs that influence disease susceptibility through other processes. New models will be developed for effects on transcription, message processing and translation. Available database information will be augmented by a combination of literature analysis and soliciting input from appropriate members of the scientific community. (3) Maintain and enhance the web resource to increase its utility to the research community. Functionality will be extended to allow users to input their own SNPs and receive a real time analysis from both models; a user annotation interface will be developed, to capture knowledge on the role of amino acids altered mis-sense SNPs, as well as which genes are most relevant to disease, and what buffering mechanisms shield the phenotype from particular deleterious SNPs; additional information sources will be incorporated, including SNP analysis by others. Relevance to public health: Many common human diseases, such as heart attack, Alzheimer, asthma and diabetes, are partly inherited, through specific DNA features. At present, there is no common disease for which these inheritance mechanisms are understood. This work will provide specific insight into a number of diseases, and improved understanding of the inheritance process.


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: 2010 ( Subtotal = $290,690 )
2010	2010	UNIVERSITY OF MARYLAND	4101 CHESAPEAKE BLDG	COLLEGE PARK	MD	20742	PRINCE GEORGES	USA	Medical Library Assistance	001	9	5/25/2010	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$290,690
2010	2009	MARYLAND BIOTECHNOLOGY INSTITUTE	701 E PRATT STREET, SUITE 200	BALTIMORE	MD	21202	BALTIMORE CITY	USA	Medical Library Assistance	000	8	5/24/2010	NON-COMPETING CONTINUATION	$0
														Subtotal = $290,690

Issue Date FY: 2009 ( Subtotal = $290,689 )
2009	2009	MARYLAND BIOTECHNOLOGY INSTITUTE	701 E PRATT STREET, SUITE 200	BALTIMORE	MD	21202	BALTIMORE CITY	USA	Medical Library Assistance	000	8	5/11/2009	NON-COMPETING CONTINUATION	$290,689
														Subtotal = $290,689

Issue Date FY: 2008 ( Subtotal = $285,166 )
2008	2008	MARYLAND BIOTECHNOLOGY INSTITUTE	701 E PRATT STREET, SUITE 200	BALTIMORE	MD	21202	BALTIMORE CITY	USA	Medical Library Assistance	000	7	5/15/2008	NON-COMPETING CONTINUATION	$285,166
														Subtotal = $285,166

Issue Date FY: 2007 ( Subtotal = $312,439 )
2007	2007	MARYLAND BIOTECHNOLOGY INSTITUTE	701 E PRATT STREET, SUITE 200	BALTIMORE	MD	21202	BALTIMORE CITY	USA	Medical Library Assistance	000	6	3/14/2007	COMPETING CONTINUATION	$312,439
														Subtotal = $312,439

Issue Date FY: 2005 ( Subtotal = $259,000 )
2005	2005	MARYLAND BIOTECHNOLOGY INSTITUTE	701 E PRATT STREET, SUITE 200	BALTIMORE	MD	21202	BALTIMORE CITY	USA	Medical Library Assistance	000	5	4/29/2005	NON-COMPETING CONTINUATION	$259,000
														Subtotal = $259,000

Issue Date FY: 2004 ( Subtotal = $254,200 )
2004	2004	MARYLAND BIOTECHNOLOGY INSTITUTE	701 E PRATT STREET, SUITE 200	BALTIMORE	MD	21202	BALTIMORE CITY	USA	Medical Library Assistance	000	4	4/26/2004	NON-COMPETING CONTINUATION	$254,200
														Subtotal = $254,200

Issue Date FY: 2003 ( Subtotal = $251,800 )
2003	2003	MARYLAND BIOTECHNOLOGY INSTITUTE	701 E PRATT STREET, SUITE 200	BALTIMORE	MD	21202	BALTIMORE CITY	USA	Medical Library Assistance	000	3	6/27/2003	NON-COMPETING CONTINUATION	$251,800
														Subtotal = $251,800

Issue Date FY: 2002 ( Subtotal = $259,000 )
2002	2002	MARYLAND BIOTECHNOLOGY INSTITUTE	701 E PRATT STREET, SUITE 200	BALTIMORE	MD	21202	BALTIMORE CITY	USA	Medical Library Assistance	000	2	8/5/2002	NON-COMPETING CONTINUATION	$259,000
														Subtotal = $259,000

Issue Date FY: 2001 ( Subtotal = $266,800 )
2001	2001	MARYLAND BIOTECHNOLOGY INSTITUTE	4321 HARTWICK ROAD	COLLEGE PARK	MD			USA	Medical Library Assistance	000	1	5/11/2001	NEW	$266,800
														Subtotal = $266,800

Grand Total All Awards = $2,469,784

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ANALYSIS OF THE FUNCTIONAL IMPACT OF CODING REGION SNPS

Award Number: R01LM007174

ORGANIZATION: NATIONAL LIBRARY OF MEDICINE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 05/15/2001

PERIOD OF PERFORMANCE END DATE: 04/30/2011

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