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Genome-Wide SNP Association in Psoriasis

Award Number: R01AR050266
ORGANIZATION: NATIONAL INSTITUTE OF ARTHRITIS & MUSCULOSKELETAL & SKIN DISEASES
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 03/01/2007
PERIOD OF PERFORMANCE END DATE: 01/31/2020

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Genome-Wide SNP Association in Psoriasis - DESCRIPTION (provided by applicant): Psoriasis (Ps) is a common chronic inflammatory skin disease affecting approximately 2-3% of individuals of European ancestry. 10-40% of the time it is accompanied by a disabling psoriatic arthritis (PsA). Other co-morbidities include metabolic syndrome and an increased risk for cardiovascular disease and stroke. Genome-wide association studies have identified over 20 predisposing loci, but account for less than 20% of disease heritability. We recently used a combination of linkage analysis and NexGen sequencing to identify mutations in caspase recruitment domain protein 14 (CARD14) in two families with highly penetrant forms of Ps and PsA, thereby successfully identifying the PSORS2 locus on human chromosome 17q25. Screening of over 5,000 cases and controls revealed additional rare variants in CARD14 and an excess of variants in cases versus controls. We also identified a single severe psoriasis case with a de-novo mutation in CARD14. Ps/PsA associated mutations enhanced NF- kB activation and altered the transcriptome of keratinocytes, leading to the production of chemokines and other psoriasis-associated inflammatory markers. In the current application we will extend our genetic analyses of CARD14 in an extended cohort of Ps/PsA patients and controls. We will also perform exome capture or whole genome sequencing on cases with sporadic and familial forms of Ps and PsA to screen for additional genes with rare highly penetrant variants predisposing to disease. By targeting cases or families with both Ps and PsA we hope to reduce possible genetic heterogeneity. Genes will be prioritized for follow up on the basis of known biological roles/pathway altered in Ps/PsA or if they are enriched for deleterious variants. Additional variants in these genes will be identified with targeted capture (4 genes per year). Those with additional variants in cases versus controls will be genotyped in a larger cohort of >5,000 cases and 5,000 controls. Statistical analyzes will then be performed to examine the contribution of rare variants in specifi genes to Ps and PsA susceptibility. Functional studies of novel variants will be performed to complement the genetic studies. By identifying rare highly penetrant mutations leading to these diseases, we will increase our understanding of disease pathogenesis and identify novel therapeutic targets lying within pathways altered in Ps/PsA.


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: 2023 ( Subtotal = -$57,191 )
2023	2016	IMPERIAL COLLEGE OF SCIENCE, TECHNOLOGY AND MEDICINE	FACULTY BUILDING SOUTH KENSINGTON C	LONDON				GBR	Arthritis, Musculoskeletal and Skin Diseases Research	000	10	10/1/2022	NON-COMPETING CONTINUATION	-$57,191
														Subtotal = -$57,191

Issue Date FY: 2020 ( Subtotal = $0 )
2020	2016	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Arthritis, Musculoskeletal and Skin Diseases Research	000	11	6/26/2020	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$0
														Subtotal = $0

Issue Date FY: 2019 ( Subtotal = $0 )
2019	2016	IMPERIAL COLLEGE OF SCIENCE, TECHNOLOGY AND MEDICINE	EXHIBITION ROAD	LONDON		SW7 2AZ		GBR	Arthritis, Musculoskeletal and Skin Diseases Research	000	10	1/7/2019	NON-COMPETING CONTINUATION	$0
2019	2016	IMPERIAL COLLEGE OF SCIENCE, TECHNOLOGY AND MEDICINE	EXHIBITION ROAD	LONDON		SW7 2AZ		GBR	Arthritis, Musculoskeletal and Skin Diseases Research	001	10	4/2/2019	NON-COMPETING CONTINUATION	-$59,124
2019	2016	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Arthritis, Musculoskeletal and Skin Diseases Research	002	11	4/2/2019	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$59,124
														Subtotal = $0

Issue Date FY: 2018 ( Subtotal = $11,651 )
2018	2016	IMPERIAL COLLEGE OF SCIENCE, TECHNOLOGY AND MEDICINE	EXHIBITION ROAD	LONDON		SW7 2AZ		GBR	Arthritis, Musculoskeletal and Skin Diseases Research	000	10	9/10/2018	NON-COMPETING CONTINUATION	-$26,873
2018	2016	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Arthritis, Musculoskeletal and Skin Diseases Research	001	11	9/10/2018	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$38,524
														Subtotal = $11,651

Issue Date FY: 2017 ( Subtotal = $0 )
2017	2016	IMPERIAL COLLEGE OF SCIENCE, TECHNOLOGY AND MEDICINE	EXHIBITION ROAD	LONDON		SW7 2AZ		GBR	Arthritis, Musculoskeletal and Skin Diseases Research	000	10	9/28/2017	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2016 ( Subtotal = $440,686 )
2016	2016	IMPERIAL COLLEGE OF SCIENCE, TECHNOLOGY & MEDICINE	EXHIBITION ROAD	LONDON				GBR	Arthritis, Musculoskeletal and Skin Diseases Research	000	10	8/9/2016	NON-COMPETING CONTINUATION	$440,686
														Subtotal = $440,686

Issue Date FY: 2015 ( Subtotal = $451,683 )
2015	2015	IMPERIAL COLLEGE OF SCIENCE, TECHNOLOGY & MEDICINE	EXHIBITION ROAD	LONDON				GBR	Arthritis, Musculoskeletal and Skin Diseases Research	000	9	9/10/2015	NON-COMPETING CONTINUATION	$451,683
														Subtotal = $451,683

Issue Date FY: 2014 ( Subtotal = $924,937 )
2014	2014	IMPERIAL COLLEGE OF SCIENCE, TECHNOLOGY & MEDICINE	EXHIBITION ROAD	LONDON				GBR	Arthritis, Musculoskeletal and Skin Diseases Research	003	8	7/30/2014	NON-COMPETING CONTINUATION	$452,528
2014	2014	IMPERIAL COLLEGE OF SCIENCE, TECHNOLOGY & MEDICINE	EXHIBITION ROAD	LONDON				GBR	Arthritis, Musculoskeletal and Skin Diseases Research	000	7	3/31/2014	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$448,566
2014	2014	IMPERIAL COLLEGE OF SCIENCE, TECHNOLOGY & MEDICINE	EXHIBITION ROAD	LONDON				GBR	Arthritis, Musculoskeletal and Skin Diseases Research	002	7	4/28/2014	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$23,843
2014	2012	WASHINGTON UNIVERSITY	CAMPUS BOX 1034	SAINT LOUIS	MO	63112	SAINT LOUIS CITY	USA	Arthritis, Musculoskeletal and Skin Diseases Research	001	6	3/31/2014	COMPETING CONTINUATION	$0
														Subtotal = $924,937

Issue Date FY: 2012 ( Subtotal = $672,987 )
2012	2012	WASHINGTON UNIVERSITY	CAMPUS BOX 1034	SAINT LOUIS	MO	63112	SAINT LOUIS CITY	USA	Arthritis, Musculoskeletal and Skin Diseases Research	001	6	7/23/2012	COMPETING CONTINUATION	$672,987
2012	2011	WASHINGTON UNIVERSITY	CAMPUS BOX 1034	SAINT LOUIS	MO	63112	SAINT LOUIS CITY	USA	Arthritis, Musculoskeletal and Skin Diseases Research	000	5	7/23/2012	NON-COMPETING CONTINUATION	$0
														Subtotal = $672,987

Issue Date FY: 2011 ( Subtotal = $608,758 )
2011	2011	WASHINGTON UNIVERSITY	CAMPUS BOX 1034	SAINT LOUIS	MO	63112	SAINT LOUIS CITY	USA	Arthritis, Musculoskeletal and Skin Diseases Research	000	5	12/13/2010	NON-COMPETING CONTINUATION	$570,021
2011	2011	WASHINGTON UNIVERSITY	CAMPUS BOX 1034	SAINT LOUIS	MO	63112	SAINT LOUIS CITY	USA	Arthritis, Musculoskeletal and Skin Diseases Research	001	5	6/24/2011	NON-COMPETING CONTINUATION	$38,737
														Subtotal = $608,758

Issue Date FY: 2010 ( Subtotal = $628,608 )
2010	2010	WASHINGTON UNIVERSITY	CAMPUS BOX 1034	SAINT LOUIS	MO	63112	SAINT LOUIS CITY	USA	Arthritis, Musculoskeletal and Skin Diseases Research	000	4	12/28/2009	NON-COMPETING CONTINUATION	$571,464
2010	2010	WASHINGTON UNIVERSITY	CAMPUS BOX 1034	SAINT LOUIS	MO	63112	SAINT LOUIS CITY	USA	Arthritis, Musculoskeletal and Skin Diseases Research	001	4	1/8/2010	NON-COMPETING CONTINUATION	$57,144
														Subtotal = $628,608

Issue Date FY: 2009 ( Subtotal = $621,914 )
2009	2009	WASHINGTON UNIVERSITY	CAMPUS BOX 1034	SAINT LOUIS	MO	63112	SAINT LOUIS CITY	USA	Arthritis, Musculoskeletal and Skin Diseases Research	001	3	3/23/2009	NON-COMPETING CONTINUATION	$62,192
2009	2009	WASHINGTON UNIVERSITY	CAMPUS BOX 1034	SAINT LOUIS	MO	63112	SAINT LOUIS CITY	USA	Arthritis, Musculoskeletal and Skin Diseases Research	000	3	1/6/2009	NON-COMPETING CONTINUATION	$559,722
														Subtotal = $621,914

Issue Date FY: 2008 ( Subtotal = $709,702 )
2008	2008	WASHINGTON UNIVERSITY	CAMPUS BOX 1034	SAINT LOUIS	MO	63112	SAINT LOUIS CITY	USA	Arthritis, Musculoskeletal and Skin Diseases Research	001	2	8/18/2008	SUPPLEMENT FOR EXPANSION	$76,000
2008	2008	WASHINGTON UNIVERSITY	CAMPUS BOX 1034	SAINT LOUIS	MO	63112	SAINT LOUIS CITY	USA	Arthritis, Musculoskeletal and Skin Diseases Research	000	2	2/27/2008	NON-COMPETING CONTINUATION	$633,702
														Subtotal = $709,702

Issue Date FY: 2007 ( Subtotal = $647,529 )
2007	2007	WASHINGTON UNIVERSITY	CAMPUS BOX 1034	SAINT LOUIS	MO	63112	SAINT LOUIS CITY	USA	Arthritis, Musculoskeletal and Skin Diseases Research	000	1	3/5/2007	NEW	$647,529
														Subtotal = $647,529

Grand Total All Awards = $5,661,264

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Genome-Wide SNP Association in Psoriasis

Award Number: R01AR050266

ORGANIZATION: NATIONAL INSTITUTE OF ARTHRITIS & MUSCULOSKELETAL & SKIN DISEASES

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 03/01/2007

PERIOD OF PERFORMANCE END DATE: 01/31/2020

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