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Using whole-exome sequencing to uncover key genetic variants related to Hidradenitis Suppurativa risk in African American and Hispanic population.

Award Number: R01AR078688
ORGANIZATION: NATIONAL INSTITUTE OF ARTHRITIS & MUSCULOSKELETAL & SKIN DISEASES
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

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Project Summary Hidradenitis suppurativa (HS) is a chronic, debilitating, inflammatory skin condition characterized by painful abscesses and lesions in the intertriginous areas. HS affects all races; however, racial disparities exist with increased prevalence, severity, delay in diagnosis, and dermatologic care in Black/African American and Hispanic/Latino HS patients compared to White counterparts. Despite these differences, contributing factors to these disparities in HS remain understudied. Although multiple studies have established the genetic components of HS, only one large-scale genetic study on HS susceptibility has been published. Our main hypothesis is that novel and rare coding-sequence variants missing in the current GWAS studies contribute to the differences in HS risk seen among Black/African American and Hispanics/Latino patients. Focusing on coding sequence variants is important since many disease-predisposing SNPs reside in the exome. Using whole-exome sequencing (WES) to comprehensively assess the associations of rare and common coding variants with HS, we will leverage data from our unique cohorts and other existing genetic resources including the All of Us and UK biobank data to evaluate our hypothesis through the following specific aims. In Aim 1 we will perform WES family and case-control analyses to Identify specific coding sequence variants associated with HS in different racial/ethnic groups (Black/AA, Hispanic/Latino, and White individuals). In Aim 2, we will study the impact of HS-associated coding-sequence variants on cellular biology by performing bioinformatics and multi-omics analyses with gain- and/or loss-of-function of candidate genes with variants. Insights into the novel and rare coding sequence variations associated with HS risk and knowledge of racial disparities in HS genetic risk will be gained through the successful completion of this proposal, which may lead to the development of new HS therapeutics.


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: 2024 ( Subtotal = $228,000 )
2024	2024	REGENTS OF THE UNIVERSITY OF CALIFORNIA, SAN FRANCISCO, THE	1855 FOLSOM ST STE 425	SAN FRANCISCO	CA	94103	SAN FRANCISCO	USA	Arthritis, Musculoskeletal and Skin Diseases Research	000	3	2/26/2024	SUPPLEMENT FOR EXPANSION	$228,000
														Subtotal = $228,000

Issue Date FY: 2023 ( Subtotal = $844,377 )
2023	2023	REGENTS OF THE UNIVERSITY OF CALIFORNIA, SAN FRANCISCO, THE	1855 FOLSOM ST STE 425	SAN FRANCISCO	CA	94143	SAN FRANCISCO	USA	Arthritis, Musculoskeletal and Skin Diseases Research	000	3	7/17/2023	NON-COMPETING CONTINUATION	$750,965
2023	2023	REGENTS OF THE UNIVERSITY OF CALIFORNIA, SAN FRANCISCO, THE	1855 FOLSOM ST STE 425	SAN FRANCISCO	CA	94143	SAN FRANCISCO	USA	Arthritis, Musculoskeletal and Skin Diseases Research	001	3	9/19/2023	SUPPLEMENT FOR EXPANSION	$93,412
														Subtotal = $844,377

Issue Date FY: 2022 ( Subtotal = $827,868 )
2022	2022	REGENTS OF THE UNIVERSITY OF CALIFORNIA, SAN FRANCISCO, THE	1855 FOLSOM ST STE 425	SAN FRANCISCO	CA	94143	SAN FRANCISCO	USA	Arthritis, Musculoskeletal and Skin Diseases Research	001	2	8/25/2022	SUPPLEMENT FOR EXPANSION	$78,651
2022	2022	REGENTS OF THE UNIVERSITY OF CALIFORNIA, SAN FRANCISCO, THE	1855 FOLSOM ST STE 425	SAN FRANCISCO	CA	94143	SAN FRANCISCO	USA	Arthritis, Musculoskeletal and Skin Diseases Research	000	2	6/27/2022	NON-COMPETING CONTINUATION	$749,217
														Subtotal = $827,868

Issue Date FY: 2021 ( Subtotal = $807,573 )
2021	2021	REGENTS OF THE UNIVERSITY OF CALIFORNIA, SAN FRANCISCO, THE	1855 FOLSOM ST STE 425	SAN FRANCISCO	CA	94143	SAN FRANCISCO	USA	Arthritis, Musculoskeletal and Skin Diseases Research	000	1	7/16/2021	NEW	$807,573
														Subtotal = $807,573

Grand Total All Awards = $2,707,818

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Using whole-exome sequencing to uncover key genetic variants related to Hidradenitis Suppurativa risk in African American and Hispanic population.

Award Number: R01AR078688

ORGANIZATION: NATIONAL INSTITUTE OF ARTHRITIS & MUSCULOSKELETAL & SKIN DISEASES

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

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