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July 30, 2020July 30, 2020

New Screening System Allows HEDGE Study Enrollment Without In-person Visits

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A new screening system will allow people with hypermobile Ehlers-Danlos syndrome (hEDS) to participate in the worldwide Hypermobile Ehlers-Danlos Genetic Evaluation (HEDGE) study without an in-person visit, the Ehlers-Danlos ... Read more

July 23, 2020July 23, 2020

Corrective Laser Eye Surgery Reported in Rare Patient Case Study

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Corrective eye surgery may be an option for some types of Ehlers-Danlos syndrome (EDS), according to a recent case report. Eye surgery is generally not recommended for EDS patients ... Read more

July 16, 2020July 16, 2020

Rare Vascular Case of EDS Linked to Newly Identified Mutation

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Physicians should suspect vascular Ehlers-Danlos syndrome when a patient shows recurrent pulmonary complications and unusually thin skin and hypermobile joints, a case report suggests. The patient was found to have a previously ... Read more

July 9, 2020July 9, 2020

National Survey Seeks to Assess Full Social, Economic Burdens of Rare Diseases in US

News, syndicated

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease ... Read more

June 25, 2020June 25, 2020

hEDS-related Pain May Be Linked to Deficit in Pain Control Mechanisms, Study Shows

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Pain in people with hypermobile Ehlers-Danlos syndrome (hEDS) likely is the result of an impaired pain suppression system that may lead to widespread pain, a study shows. The data, which ... Read more

June 23, 2020June 23, 2020

Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

News, syndicated

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will ... Read more

June 18, 2020June 18, 2020

Scientists Discover EDS Mutation Linked to Protein Important for Tissue Structure

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In patients with Ehlers-Danlos syndrome (EDS), defects in the aortic carboxypeptidase-like protein (ACLP) — a protein that plays a key role in wound healing and tissue scarring (fibrosis) — ... Read more

June 11, 2020June 11, 2020

Rare Form of EDS Marked by Distinct Facial Features, Short Stature

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Mutations in the gene SLC39A13 cause a very rare type of Ehlers-Danlos syndrome (EDS) that is characterized by short stature starting in early childhood and distinctive facial features, a study ... Read more

June 10, 2020June 10, 2020

Coalition Will Address Racial Disparities in Rare Disease Communities

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The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis ... Read more

June 4, 2020June 4, 2020

Mouse Study Illuminates How TGFBR1 Mutations May Cause Hearing Loss Linked to vEDS

News

Mutations in the TGFBR1 gene, the underlying cause of some cases of vascular Ehlers-Danlos syndrome (vEDS), may lead to hearing loss by preventing the formation of key sensory cells in ... Read more

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