Ehlers Danlos Syndrome News and Research

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Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels and other organs. EDS usually affects your skin, joints and blood vessel walls. Symptoms include loose joints, fragile small blood vessels, abnormal scar formation and wound healing, soft, velvety, stretchy skin that bruises easily. There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms. It also includes learning how to protect your joints and prevent injuries.

A Map of 'Shortcuts' simplifies the hunt for disease-causing genes

Some diseases are caused by single gene mutations. Current techniques for identifying the disease-causing gene in a patient produce hundreds of potential gene candidates, making it difficult for scientists to pinpoint the single causative gene.

19 Mar 2013

Researchers to develop new diagnostic tools and treatments for people with rare diseases

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale.

25 Jan 2013

Hemostatic testing may explain heavy menstrual bleeding

Results of a US study show that hemostatic screening tests are important in the evaluation of young women with heavy menstrual bleeding.

24 Oct 2012

Whole exome sequencing provides clues about rare mutations in aneurysms

An innovative approach to genome screening has provided clues about rare mutations that may make people susceptible to brain aneurysms, predisposing them to brain bleeds, according to preliminary late-breaking research presented at the American Stroke Association's International Stroke Conference 2012.

4 Feb 2012

Top ten advances in cardiovascular, stroke research in 2010

Research on reducing risks, improving medical treatment and improving lifestyle behaviors to fight the battle against heart disease and stroke are among the key scientific findings that make up this year's top cardiovascular and stroke research recognized by the American Heart Association/American Stroke Association.

22 Dec 2010

A novel approach for funding children's genetic disease research

Parent Project Muscular Dystrophy together with Trisomy 18 Foundation are among 100 charities that earned a $25,000 grant during Round 1 of the Chase Community Giving Challenge on Facebook.

19 Jan 2010

Flaw in bone's material leads to disease

The weak tendons and fragile bones characteristic of osteogenesis imperfecta, or brittle bone disease, stem from a genetic mutation that causes the incorrect substitution of a single amino acid in the chain of thousands of amino acids making up a collagen molecule, the basic building block of bone and tendon.

4 Aug 2009

Largest review of Loeys-Dietz syndrome to date

At least three severe, potentially fatal genetic diseases leave patients with aortas so flimsy that they can rupture in pregnancy and labor or even lesser activities, often without warning.

31 Aug 2006