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Seeking to Uncover the Genetic Cause of Hypermobile Ehlers-Danlos Syndrome

The Ehlers-Danlos Society announces research efforts into hEDS biomarkers.

A PPM Brief

The Ehlers-Danlos Society announced plans1 to commence a research study focused on finding genetic biomarkers associated with hypermobile Ehlers-Danlos syndrome (hEDS), determined to uncover the genetic cause of the condition.

Earlier this year, the Ehlers-Danlos Society organized the Hypermobile EDS Genetic ResearchNetwork, a group composed of international physicians, geneticists, and technical staff tasked with finding the genetic cause of hEDS. Of the 14 subtypes of the connective tissue disorder known as Ehlers-Danlos syndrome, hEDS is the most common and only one that does not have a known genetic biomarker.

“To find preventions and treatments for hEDS, we have to understand the cause. Genetic studies like this one provide a path towards that goal,” said Joel Hirschhorn, MD, PhD, Concordia professor of pediatrics and professor of genetics at Boston Children’s Hospital and member of the Hypermobile Genetic Research Network, in a press release.

(Source: 123RF)

The effort will begin with the recruitment and screening of 1,000 participants clinically diagnosed with hEDS who must first register with the EDS and Related Disorders Global Registry. Later this year, clinicians will be asked to invite their qualified patients for genetic sequencing. Samples from these individuals will then be genetically sequenced and analyzed for possible genetic markers. Enrollment events will begin at the Society’s European Learning Conference in Madrid, Spain in April 2019, as well as a learning conference in Nashville, TN, in July 2019.

Acquiring knowledge into the genetic biomarkers of hEDS will allow for the integration of better treatment for those affected, helping physicians make informed, rational therapies for this disorder with hopes of a cure.

“If we are successful in identifying the underlying genes for hypermobile EDS, the opportunities for earlier diagnosis and more comprehensive treatment and care are virtually limitless,” said Lara Bloom, international executive director for The Ehlers-Danlos Society, in the release.

For more info, visit The Ehlers-Danlos Society website here.

-Reporting by Cornelius Muntazar

Last updated on: April 3, 2019
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