Research Update on Loeys-Dietz Syndrome and Marfan syndrome

Dr. Hal Dietz, Victor A. McKusick Professor of Institute of Genetic Medicine and Professor of Pediatrics and Investigator of Howard Hughes Medical Institute at The Johns Hopkins Hospital and Chair of the Loeys-Dietz Syndrome Foundation Medical Advisory Council (MAC), presents “Research Update on Loeys-Dietz Syndrome” at the 2012 LDSF Conference in Baltimore, Maryland, USA. Dr. Dietz discusses the latest on LDS mice model research findings.


Researchers studying the genetics behind Marfan and Loeys-Dietz syndrome have discovered that there may be a common genetic driver behind almost all allergic diseases

Scientists Reveal Genetic Glitch at the Root of AllergiesAllergies are certainly the result of both genetic and environmental factors, but there is fresh evidence to suggest that at least one major genetic aberration could be behind everything from hay fever to food allergies to asthma.

Allergies — to dust, pet hair or peanuts — are essentially the product of misdirected immune systems, which start to see innocuous objects as potential threats and launch an intensive assault that can translate into sneezing, wheezing, and even potentially fatal seizures. For decades now, rates of allergies and other immune-related diseases such as asthma and eczema have been rising in the U.S., and the rapid increase suggests that it’s more than just genes, or just changes in lifestyle that made us too clean that are at work.

Now researchers studying the genetics behind the rare tissue disorders Marfan and Loeys-Dietz syndromes have discovered that there may be a common genetic driver behind almost all allergic diseases. Reporting in the journal Science Translational Medicine, scientists from Johns Hopkins Children’s Center and the Johns Hopkins Institute of Genetic Medicine say that they were surprised to find that the same mutation they found in the Marfan and Loeys-Dietz patients may also trigger the immune changes responsible for allergies; most of the patients with the two rare disorders also have higher than normal rates of allergies.

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Dural Ectasia article from NMF

nmf-logoThe central nervous system – the brain and spinal column – are surrounded by fluid contained in a membrane called the dura, which is primarily made up of connective tissue. The enlargement of this membrane is referred to as “dural ectasia.” Dural ectasia also includes perineural cysts and meningocele cysts.

Dural ectasia is present in more than 60 percent of people affected with Marfan syndrome. Research suggests that the presence of dural ectasia does not always cause problems, although it sometimes causes back, abdominal and leg pain and headaches in some affected persons.

Dural ectasia is best identified through MRI imaging, particularly of the lower spine with a person standing upright. A mylogram, CT scan, or plain spinal films might also reveal the presence of dural ectasia.


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A Father’s Hunt For His Daughter’s Genetic Defect

marfan-sydome-uk-logo3.jpgSome people in life can see whole worlds in small things. Hugh Rienhoff can see it in a molecule called Transforming Growth Factor Beta-3. In 2003, his daughter Beatrice was born with a few noticeable abnormalities. Her eyes were spaced wider than usual, her leg muscles were weak, and she wouldn’t gain weight. It resembled Marfan syndrome, a genetic disorder that can cause tears in the human heart, sometimes fatally.

Doctors couldn’t diagnose Beatrice with Marfan or any known disorder, so Hugh Rienhoff, who trained as a clinical geneticist, decided to try to identify the mysterious affliction that had struck his daughter. For nearly a decade, he’s been on a hunt to find the genetic mutation that is responsible for Beatrice’s illness, and now he’s published an academic paper that may trace the route to a mutation in the gene that makes Transforming Growth Factor Beta-3.

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Two-Time Tony Nominee Daphne Rubin-Vega Urges the Hispanic Community to Learn About Marfan Syndrome

Daphne-Rubin-VegaPort Washington, NY (PRWEB) July 17, 2013 Two-time Tony nominee Daphne Rubin-Vega is speaking out for the National Marfan Foundation (, urging the Hispanic community to learn about Marfan syndrome, a life-threatening genetic disorder that affects one in 5,000 men and women of every race and ethnicity. Tragically, experts estimate that nearly half of the people who have Marfan syndrome don’t know it. Without proper diagnosis and treatment, they are at high risk for aortic dissection and sudden death. Daphne, who is well-known for the role of Mimi she originated in Broadway’s RENT – and for which she was nominated for a Tony Award – knows too well about the dangers of Marfan syndrome. More >>>

`Spa for a Cause’ to help Castle Rock girl

Spa-for-a-Cause-to-help-Castle-Rock-girlShe’s only 10, but looks like she has soldiered through some war. She’s long-limbed and bony, and her eyes are red and tired after multiple surgeries for detached retinas.
“I play by myself at recess all the time,” said Maddy Collins about experiences at South Ridge Elementary School in Castle Ro

Some kids call her “alien” and she sits alone at lunch, because they worry if their trays touch hers, they’ll have to throw their food away.

That’s what Maddy, who was born with Marfan syndrome, faces from many classmates. And then there’s what she and her family face every day.
There is a long list of things she can’t do. So that she can live.

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Health Profile: An advocate for Marfan sufferers

bilde-260x300Teri Dean cofounded the Heart of Iowa chapter of the National Marfan Foundation after her son’s diagnosis, a process that took 14 years and numerous hospitalizations. The group is hosting several upcoming events to raise awareness and money, including a Moonlight Stroll and Have Heart run this weekend.

One in 5,000 people have Marfan syndrome and about half of those people do not know they have the disorder, Dean said.

What is Marfan syndrome?

Marfan syndrome is a connective tissue disorder that affects the heart, blood vessels, eyes, bones, joints and lungs. It is often, but not always, characterized by tall stature and disproportionately long legs and arms.

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