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Genetic and Molecular Mechanisms of hypermobile Ehlers Danlos Syndrome

Award Number: F32AI181339
ORGANIZATION: NATIONAL INSTITUTE OF ALLERGY & INFECTIOUS DISEASES
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: FELLOWSHIP/SCHOLARSHIP/STUDENT LOANS
PERIOD OF PERFORMANCE START DATE: 02/01/2024
PERIOD OF PERFORMANCE END DATE: 02/13/2026
AWARD TERMINATION DATE: 03/10/2026

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Genetic and Molecular Mechanisms of hypermobile Ehlers Danlos Syndrome - Abstract The Ehlers Danlos Syndromes encompass a group of heritable connective tissue disorders with a complex phenotype affecting multiple body systems. Among these, the hypermobile subtype of EDS (hEDS), is the most common type of EDS affecting 1 in 500 individuals. The disease phenotype is characterized by hypermobile joints that lead to musculoskeletal defects, skin manifestations, tissue fragility, and multiple comorbidities. The healthcare burden associated with hEDS is substantial, with patients often requiring care from a variety of medical specialists, frequent surgeries and hospitalizations, management of debilitating chronic pain, and consistent physical and occupational therapy. Despite well-documented inheritance, the genetic causes of hEDS remain unclear, and diagnosis relies on clinical criteria, resulting in an average 14-year delay in diagnosis. There are currently no direct treatment options for hEDS other than symptom management. Recent findings from our group have highlighted the crucial role of a gene family of trypsin-like serine proteases in hEDS. This proposal will build on these discoveries by exploring the molecular, cellular, and additional genetic mechanisms that contribute to hEDS pathogenesis and connective tissue homeostasis. We will explore how proteins encoded by hEDS genes regulate collagen fibrillogenesis (Aim 1), investigate their contribution of mast cells to altered extracellular matrix (Aim 2), and perform genome wide association studies (GWAS) to reveal common variants associated with hEDS and connective tissue biology (Aim 3). By employing our unique and novel mouse models and leveraging our extensive clinical genetic registry, we aim to gain novel insights into the pathogenesis of hEDS and its related comorbidities. From these discoveries, we aim to accelerate the development of targeted therapies for hEDS, create more accurate molecular diagnostic tools and ultimately alleviate the burden on patients and the healthcare system.


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: 2026 ( Subtotal = $18,135 )
2026	2026	THE MEDICAL UNIVERSITY OF SOUTH CAROLINA	179 ASHLEY AVE	CHARLESTON	SC	29425	CHARLESTON	USA	Allergy and Infectious Diseases Research	001	3	3/10/2026	TERMINATION	-$62,905
2026	2026	THE MEDICAL UNIVERSITY OF SOUTH CAROLINA	179 ASHLEY AVE	CHARLESTON	SC	29425	CHARLESTON	USA	Allergy and Infectious Diseases Research	000	3	12/24/2025	TERMINATION	$81,040
														Subtotal = $18,135

Issue Date FY: 2025 ( Subtotal = $78,520 )
2025	2025	THE MEDICAL UNIVERSITY OF SOUTH CAROLINA	179 ASHLEY AVE	CHARLESTON	SC	29425	CHARLESTON	USA	Allergy and Infectious Diseases Research	001	2	8/4/2025	NON-COMPETING CONTINUATION	$1,236
2025	2025	THE MEDICAL UNIVERSITY OF SOUTH CAROLINA	179 ASHLEY AVE	CHARLESTON	SC	29425	CHARLESTON	USA	Allergy and Infectious Diseases Research	000	2	12/11/2024	NON-COMPETING CONTINUATION	$77,284
														Subtotal = $78,520

Issue Date FY: 2024 ( Subtotal = $73,828 )
2024	2024	THE MEDICAL UNIVERSITY OF SOUTH CAROLINA	179 ASHLEY AVE	CHARLESTON	SC	29425	CHARLESTON	USA	Allergy and Infectious Diseases Research	001	1	11/22/2023	NEW	$0
2024	2024	THE MEDICAL UNIVERSITY OF SOUTH CAROLINA	179 ASHLEY AVE	CHARLESTON	SC	29425	CHARLESTON	USA	Allergy and Infectious Diseases Research	000	1	11/22/2023	NEW	$69,080
2024	2024	THE MEDICAL UNIVERSITY OF SOUTH CAROLINA	179 ASHLEY AVE	CHARLESTON	SC	29425	CHARLESTON	USA	Allergy and Infectious Diseases Research	002	1	5/6/2024	NEW	$4,748
														Subtotal = $73,828

Grand Total All Awards = $170,483

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Genetic and Molecular Mechanisms of hypermobile Ehlers Danlos Syndrome

Award Number: F32AI181339

ORGANIZATION: NATIONAL INSTITUTE OF ALLERGY & INFECTIOUS DISEASES

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: FELLOWSHIP/SCHOLARSHIP/STUDENT LOANS

PERIOD OF PERFORMANCE START DATE: 02/01/2024

PERIOD OF PERFORMANCE END DATE: 02/13/2026

AWARD TERMINATION DATE: 03/10/2026

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