Marfan Syndrome News and Research

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Marfan syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. Because the condition affects many parts of the body, it can cause a number of complications. In some cases, the complications are life threatening.

Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body’s connective tissue. Most people who have Marfan syndrome inherit it from their parents. If you have Marfan syndrome, you have a 50 percent chance of passing the altered gene on to each of your children. In about 1 in 4 cases, Marfan syndrome occurs because of a spontaneous mutation. Thus, the affected person is the first in their family to have the condition.

Researchers identify first gene that causes common form of mitral valve prolapse

An international research collaboration led by Massachusetts General Hospital investigators has identified the first gene in which mutations cause the common form of mitral valve prolapse (MVP), a heart valve disorder that affects almost 2.5 percent of the population.

11 Aug 2015

Medical researchers at Saint Louis University bring hope to those in pain and sickness

This year, Saint Louis University medical researchers advanced their fields, contributing to human knowledge and bringing hope to those in pain and sickness.

23 Dec 2014

New treatment for Marfan syndrome works as well as beta blockers

A new treatment for Marfan syndrome, a rare genetic disease that can lead to heart problems, works as well as the currently recommended medical therapy, beta blockers, according to an article in the New England Journal of Medicine.

21 Nov 2014

Investigational treatment shows promise against Marfan syndrome

An investigational treatment for Marfan syndrome is as effective as the standard therapy at slowing enlargement of the aorta, the large artery of the heart that delivers blood to the body, new research shows. The findings indicate a second treatment option for Marfan patients, who are at high risk of sudden death from tears in the aorta.

18 Nov 2014

Mayo Clinic orthopedic surgeon explains how scoliosis affects Baby Boomers

For many adults, the word scoliosis conjures up childhood memories of lining up in gym class for an examination by the school nurse. But scoliosis isn't just a pediatric condition. Curvature of the spine can develop in adults too, and the osteoporosis that can accompany menopause is a risk factor.

29 Oct 2014

Computational biologists develop program for easy diagnosis of hereditary illnesses

In the case of a cough or a sore throat, the doctor can usually diagnose a common cold immediately. However, the diagnosis of hereditary illnesses like cystic fibrosis, which affects the metabolism, or Huntington's disease, which leads to cognitive decline, is much more complex.

29 Jul 2014

Kids with rare mutations in two genes are 4 times more likely to develop severe scoliosis

Children with rare mutations in two genes are about four times more likely to develop severe scoliosis than their peers with normal versions of the genes, scientists have found.

16 Jun 2014

A non-invasive method developed to fight heart disease

Clemson University researchers have developed nanoparticles that can deliver drugs targeting damaged arteries, a non-invasive method to fight heart disease.

18 Feb 2014

Johns Hopkins cardiologist receives first Harrington prize for innovation in medicine

Johns Hopkins pediatric cardiologist and geneticist Hal Dietz, M.D., has been awarded the first Harrington Prize for Innovation in Medicine for his work identifying the cause and a treatment for Marfan syndrome.

13 Feb 2014

Team Ritter to raise funds for John Ritter Foundation for Aortic Health at ING NYC Marathon

Friends and family members of people with thoracic aortic disease and fans of the late legendary comedic actor John Ritter will come together as Team Ritter to raise funds for the John Ritter Foundation for Aortic Health at the ING New York City Marathon on Nov. 3, 2013.

10 Oct 2013

Research points to causes, potential treatment approaches for systemic sclerosis

Using mice, lab-grown cells and clues from a related disorder, Johns Hopkins researchers have greatly increased understanding of the causes of systemic sclerosis, showing that a critical culprit is a defect in the way certain cells communicate with their structural scaffolding

10 Oct 2013

Key findings may have broad implications for future scleroderma therapy

The Scleroderma Research Foundation today said that researchers at The Johns Hopkins University working in a novel mouse model of Stiff Skin Syndrome have made key discoveries that may have broad implications for future scleroderma therapy.

10 Oct 2013

Scientists study genetic factors involved in complex diseases

Although heavily studied, the specific genetic causes of "complex diseases," a category of disorders which includes autism, diabetes and heart disease, are largely unknown due to byzantine genetic and environmental interactions.

27 Sep 2013

Common blood pressure drug reduces fatal cardiac problem in patients with Marfan syndrome

A common drug that is used to treat high blood pressure in the general population has been found to significantly reduce a dangerous and frequently fatal cardiac problem in patients with Marfan syndrome.

2 Sep 2013

Faulty genetic pathway is a potent player in many types of allergies, say researchers

Newly published research by investigators at the Johns Hopkins Children's Center and the Johns Hopkins Institute of Genetic Medicine reveals that a faulty genetic pathway already known for its role in some connective tissue disorders is also a potent player in many types of allergies.

25 Jul 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

Tall, thin women face increased risk of infection with nontuberculous mycobacteria

Tall, thin women face a greater risk of infection with nontuberculous mycobacteria (NTM), cousins of the organism that causes tuberculosis, according to researchers at National Jewish Health. Women with NTM infections also showed a weakened immune response associated with their fat cells, in a paper published in the Jan. 15, 2013, issue of The American Journal of Respiratory and Critical Care.

23 Jan 2013

Institute for Translational Medicine and Therapeutics' 2012 symposium be held from Oct. 16-17

The Institute for Translational Medicine and Therapeutics' 7th Annual International Symposium (ITMAT) will be held October 16 and 17 at the Perelman School of Medicine, University of Pennsylvania.

20 Sep 2012

Johns Hopkins team creates synthetic protein that can help locate tumors

Johns Hopkins researchers have created a synthetic protein that, when activated by ultraviolet light, can guide doctors to places within the body where cancer, arthritis and other serious medical disorders can be detected.

30 Aug 2012

National Marfan Foundation’s annual conference to be held in Chicago

The National Marfan Foundation is gearing up for its 28th Annual conference, held at Northwestern Memorial Hospital in Chicago, August 2-5. Hosted by Northwestern Medicine- and the Ann and Robert H. Lurie Children's Hospital of Chicago, the four-day conference has something for everyone with Marfan syndrome (MFS) and related disorders, including access to many of the top MFS experts in the world.

31 Jul 2012

Marfan Syndrome News and Research

Further Reading

Researchers identify first gene that causes common form of mitral valve prolapse

Medical researchers at Saint Louis University bring hope to those in pain and sickness

New treatment for Marfan syndrome works as well as beta blockers

Investigational treatment shows promise against Marfan syndrome

Mayo Clinic orthopedic surgeon explains how scoliosis affects Baby Boomers

Computational biologists develop program for easy diagnosis of hereditary illnesses

Kids with rare mutations in two genes are 4 times more likely to develop severe scoliosis

A non-invasive method developed to fight heart disease

Johns Hopkins cardiologist receives first Harrington prize for innovation in medicine

Team Ritter to raise funds for John Ritter Foundation for Aortic Health at ING NYC Marathon

Research points to causes, potential treatment approaches for systemic sclerosis

Key findings may have broad implications for future scleroderma therapy

Scientists study genetic factors involved in complex diseases

Common blood pressure drug reduces fatal cardiac problem in patients with Marfan syndrome

Faulty genetic pathway is a potent player in many types of allergies, say researchers

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

Tall, thin women face increased risk of infection with nontuberculous mycobacteria

Institute for Translational Medicine and Therapeutics' 2012 symposium be held from Oct. 16-17

Johns Hopkins team creates synthetic protein that can help locate tumors

National Marfan Foundation’s annual conference to be held in Chicago

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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