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Our laboratory is dedicated to advancing the understanding of Ehlers-Danlos Syndrome (EDS), with a focus on the altered signaling pathways that drive inflammation and joint complications in affected patients.
A key aspect of our work involves building a robust patient cohort to identify novel biomarkers, aiming to improve diagnostic accuracy and significantly reduce the time to diagnosis for individuals with EDS.
In addition, we are investigating a rare form of EDS associated with ADAMTSL2 variants, striving to uncover its unique molecular mechanisms.
By leveraging cutting-edge molecular biology techniques and analyzing specific inflammatory markers, our research seeks to contribute meaningful discoveries that enhance care and treatment options for EDS patients.
The Ehlers-Danlos syndromes (EDS)
The Ehlers-Danlos syndromes (EDS)
EDS is a group of inherited connective tissue disorders affecting collagen or associated proteins, that provides structure and strength to tissues like skin, joints,blood vessels, and organs. There are 13 types of EDS, each with distinct genetic causes and varying degrees of severity (see bellow).
These types can involve different genes related to collagen production or processing.
EDS: One Name, Many Signs and Symptoms
EDS encompasses a wide range of signs and symptoms, making it highly challenging to diagnose. Even within the same EDS subtype, patients can present with vastly different manifestations, adding to the complexity.
Diagnosing EDS is further complicated by its classification as a group of distinct subtypes, each with unique features. Some forms of EDS are linked to multiple genes, while the genetic cause remains unknown for others. To date, more than 60 different genes have been associated with EDS, making it even harder to pinpoint a diagnosis for individual patients.
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