Health and Medical News and Resources

General interest items edited by Janice Flahiff

Creating Awareness Of Rare Diseases & Rare Disease Advocacy Day (March 1, 2012)

From the 6 December 2011 article at Medical News Today

“Rare diseases”, by their very definition, occur in no more than 5 people out of every 10,000 inhabitants. Barely noticed by the general public, only around 1,000 of the currently 6,000 or so different rare diseases currently listed on the Internet platform Orphanet are treatable nowadays. “And only a very small number are curable,” says Till Voigtländer from the Clinical Institute of Neurology at the MedUni Vienna and an expert on rare diseases.

80 per cent of rare diseases have a genetic origin, with the remaining 20 per cent being caused by diseases of the immune system, infections or poisoning. Clinically, rare diseases are frequently characterised by a severe, chronic progression of the disease and/or a shortened life expectancy.

So it is all the more important to create awareness of this type of disease, for example at the Austrian Congress on Rare Diseases 2011 at the MedUni Vienna, which is being held on the 2nd and 3rd of December and arranged jointly by Till Voigtländer and Reginald Bittner from the Centre for Anatomy and Cell Biology…..

 

Helping Rare Disease Patients Find Their Voice

(with information on Rare Disease Advocacy Day, March 1, 2012

Patients often need advocates, and that can be especially true for people with a rare disease, who have unique problems and may have little or no support or available treatment.

To help them become advocates for themselves and others with their disease, the Food and Drug Administration (FDA) is sponsoring its first “FDA Rare Disease Patient Advocacy Day” on March 1, 2012.

This event at FDA headquarters in Silver Spring, Md., commemorates the fifth annual Rare Disease Day, a global campaign to raise awareness of the more than 250 million people worldwide who suffer from rare diseases. Some of these diseases have familiar names—such as cystic fibrosis and Lou Gehrig’s disease—but there are thousands of others whose name is only known to those affected by them.

The Patient Advocacy Day sessions—some of which will also be webcast—are partially designed to increase awareness within the rare disease community of FDA’s roles and responsibilities in the development of medical products for the diagnosis, prevention, and/or treatment of rare diseases or conditions. (Click here disclaimer iconfor the registration form.)

December 6, 2011 Posted by | Public Health | , , , , , | Leave a comment

Just in time for Valentine’s Day: UNC researchers identify a gene critical for heart function

Just in time for Valentine’s Day: UNC researchers identify a gene critical for heart function

Hearts from a wild type control mouse (left) and from a DOT1L-deleted mouse displaying dilated cardiomyopathy (right) . In the absence of DOT1L hearts become severely enlarged, compromising heart function.

 

From the February 5, 2011 Eureka news alert

CHAPEL HILL, N.C. – Everyone knows chocolate is critical to a happy Valentine’s Day. Now scientists are one step closer to knowing what makes a heart happy the rest of the year.

It’s a gene called DOT1L, and if you don’t have enough of the DOT1L enzyme, you could be at risk for some types of heart disease. These findings from a study led by researchers at the University of North Carolina at Chapel Hill School of Medicine appear in the Feb. 1, 2011 issue of the journal Genes and Development.***

The team created a special line of mice that were genetically predisposed to dilated cardiomyopathy, a condition in which the heart expands like a balloon, causing its walls to thin and its pumping ability to weaken. About one in three cases of congestive heart failure is due to dilated cardiomyopathy, a condition that also occurs in children.

These mice lack DOT1L. The big discovery came when the researchers were able to prevent the mice from developing the disease by re-expressing a single downstream target gene, Dystrophin….

***For suggestions on how to get this article for free or at low cost, click here

Some other recent recent biomedical research news items

February 6, 2011 Posted by | Medical and Health Research News | , , , , , | Leave a comment

   

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