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Ehlers-Danlos syndrome: Reviewing the diagnostic utility of genetic testing for EDS

Wed, 02 Jul

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Teams Virtual Event

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders affecting connective tissue, primarily skin, joints, and blood vessel walls. These syndromes are caused by genetic mutations in genes involved in collagen production or function, leading to weaker and more stretchy connective tissues.

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Ehlers-Danlos syndrome: Reviewing the diagnostic utility of genetic testing for EDS
Ehlers-Danlos syndrome: Reviewing the diagnostic utility of genetic testing for EDS

Time & Location

02 Jul 2025, 19:00 – 20:00

Teams Virtual Event

About the Event

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders affecting connective tissue, primarily skin, joints, and blood vessel walls. These syndromes are caused by genetic mutations in genes involved in collagen production or function, leading to weaker and more stretchy connective tissues. The inheritance patterns can vary, with some types being autosomal dominant and others autosomal recessive. In this webinar, Professor Clair A. Francomano will discuss the various forms and inheritance patterns of EDS, and review the diagnostic utility of genetic testing for EDS.


Webinar objectives:

  • Discuss the various forms and the inheritance patterns of Ehlers-Danlos syndrome

  • Review the diagnostic utility of genetic testing for Ehlers-Danlos syndrome


Speaker:

Professor Clair Francomano has been involved in the care of individuals with Ehlers-Danlos syndromes throughout her career. During her years at the National Institutes of Health, she spearheaded a longitudinal study on the natural history of EDS that ran for over 20…


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Physical Address

The Station, 63 Peter Place, Bryanston, Sandton, 2021

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Rare Diseases South Africa

NPO 120-991

The Station, 63 Peter Place, Bryanston, Sandton, 2021

(“the Organisation”)

 

MANUAL PREPARED IN ACCORDANCE WITH SECTION 51 OF THE PROMOTION OF ACCESS TO INFORMATION ACT NO. 2 OF 2000

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