The funds from this gift/grant will be used to explore new gene candidates for hEDS. By taking the genetic variants that we identified in hEDS patients, we can validate whether these potential mutations (or variants of unknown significance) are relevant to causing hEDS. Through these studies, new models will be generated that will allow us to test how genotype can correlate with phenotype and various co-morbidities found in the patients.

$150,000
Primary Investigator:
Russell Norris
Medical University of South Carolina
Charleston, South Carolina, USA

Our lab uses mouse models of vascular Ehlers-Danlos syndrome (VEDS) to try to understand the underlying mechanism that drives vascular fragility and rupture. In this manner, we hope to develop new treatment strategies for VEDS. While substantial progress has been made in defining a list of abnormalities that occur in the walls of arteries in models of VEDS, we lack the ability to assign these abnormalities to specific cell types, or an understanding of how cells send abnormal signals to each other. We have now launched a comprehensive program to address these issues using state-of-the-art genetic technologies that allow identification of all the genes that are turned on or turned off in thousands of individual cells in the aorta, and to look at how these gene signatures vary based upon the specific location of a given cell, including consideration of what cell types are immediately next door. This profiling will be performed in VEDS mice that are either vulnerable to having a vascular event or protected based upon manipulation (such as use of a medication). In this manner we hope to identify new drug targets, predict at-risk vascular segments for more frequent imaging or surgical intervention, and identify a protein in the bloodstream (a so-called biomarker) that can help to monitor disease progression or an individual’s response to treatment. We are very excited about this research direction and thankful to the EDS Society for the opportunity to perform this work.

$150,000
Primary investigator:
Hal Dietz
John Hopkins University
Baltimore, MD, USA

$30,000
Primary investigator:
Rebecca Bascom
The Pennsylvania State University
Pennsylvania, PA, USA

$80,000
Primary investigator:
Ulrich Valcourt
University Lyon
Lyon, France

$120,000
Primary investigator:
Frederico Forneris
University of Pavia
Pavia, Italy

$5,000
Primary Investigator:
Catherine Bui
Université de Lorraine
France, Nancy

$5,000
Primary Investigator:
Dacre Knight
Mayo Clinic
Florida, United States

$5,000
Primary Investigator:
Delfien Syx
Ghent University
Ghent, Belgium

$5,000
Primary Investigator:
Fransiska Malfait
Ghent University
Ghent, Belgium

$5,000
Primary Investigator:
Jane Schubart
Penn State College of Medicine
Pennsylvania, United States

$5,000
Primary Investigator:
Jared R Fletcher
Mount Royal University
Calgary, Canada

$5,000
Primary Investigator:
Jennifer Andrews
University of Arizona
Arizona, United States

$5,000
Primary Investigator:
M.C Scheper
Hogeschool Rotterdam
Rotterdam, Netherlands

$5,000
Primary Investigator:
Ranita Manocha
University of Calgary
Calgary, Canada

$5,000
Primary Investigator:
Sara Guedry
National University of Natural Medicine
Portland, Oregon

$5,000
Primary Investigator:
Hyo Jung Jeong
University of Wisconsin
Milwaukee, USA

$5,000
Primary Investigator:
Emily Rosario
Casa Colina Hospital and Centers for Healthcare
Pomona, USA

$5,000
Primary Investigator:
Brent Doolan
Cambridge University Hospitals
Cambridge, UK

$5,000
Primary Investigator:
Veronique Vitart
University of Edinburgh
Edinburgh, United Kingdom

$5,000
Primary Investigator:
Marta Jokiel
Poznan University of Medical Sciences
Poznan, Poland

$5,000
Primary Investigator:
Laurie Jahnke
Boro Medical Clinic
Murfreesboro, United States

$5,000
Primary Investigator:
Julie Hill
Auburn University
Auburn, United States

$5,000
Primary Investigator:
Jordan Jones
Children’s Mercy Kansas City
Kansas City, United States