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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

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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

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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

May 29, 2020May 29, 2020

COVID-19 Delaying Rare Disease and Gene Therapy Trials, Pharma Execs Say

News, syndicated

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene ... Read more

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