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

World’s most advanced system to help Aussie researchers detect and analyze rare cells

From the November 23, 2010 Eureka news alert

New flow cytometer will help in fight against cancer, asthma, cardiovascular, autoimmune and infectious diseases

A world-first research system to be launched today at the Centenary Institute will give medical researchers in Australia a new weapon in the fight against cancer and other life-threatening diseases. The new BD LSR-9 Flow Cytometer with its nine lasers will be the first user-operated flow cytometer with unprecedented ability to detect and analyse rare cells.

The BD LSR9 Flow Cytometer will be housed at the Centenary Institute as part of the Advanced Cytometry Facility (ACF), which is a joint venture run by the Centenary Institute, the University of Sydney and the Bosch Institute.

Advanced Cytometry Facility Academic Director Professor Nick King said: “Currently, a researcher may have to run a sample of cells two or three times using complex labelling systems to analyse all the unique characteristics of a cell. This makes it very difficult to detect rare cell populations. It’s like a detective at a crime scene gathering two or three sets of partial fingerprints then having to cobble them together to get a complete fingerprint….

About Flow Cytometry

A flow cytometer allows researchers to rapidily analyse large populations of cells. Individual cells are examined and a wide variety of properties of each cell can be recorded. Researchers tag the cell populations with fluorescent dyes and then use the flow cytometer to a pass the cells through a beam of laser light one at a time. This laser light is scattered by the cells and provides a way to measure physical properties of the cell such as size. The laser also excites the different fluorescent dyes attached to cells. These dyes produce light of different colours and allow the researchers to count and analyse the cell types that are present. By examining the cells one by one, researchers can find minute characteristics of the cells to get an accurate profile of rare disease-causing cells.

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About the Centenary Institute: The Centenary Institute is an independent medical research institute, affiliated with Royal Prince Alfred Hospital and the University of Sydney. Our unique blend of highly skilled staff and state-of-the art equipment and facilities has allowed us to become world leaders in three critical areas of medical research – cancer, cardiovascular disease and infectious diseases. For further information about the Centenary Institute, visit www.centenary.org.au

November 24, 2010 Posted by | Biomedical Research Resources, Health News Items | , , , , , | Leave a comment

NIH Scientists Discover Secrets of Helper T Cells Involved in Autoimmunity

From an October 20, 2010 US National Institutes of Health press release

Scientists at the National Institutes of Health have redefined the roles of several cytokines involved in the generation of immune cells implicated in severe autoimmune diseases. The study in mice showed that development of Th17 immune cells can occur without the presence of transforming growth factor (TGF)-beta, a mediator thought to be required for Th17 cell development. The study demonstrates that the interaction of three inflammatory cytokines (proteins that influence the behavior of cells) – interleukin-6 (IL-6), IL-1-beta and IL-23 – is responsible for the creation of Th17 cells that are more active in promoting autoimmunity than Th17 cells generated with IL-6, IL-1-beta and TGF-beta. These findings reemphasize the separate roles of IL-23 and TGF-beta in immunity and autoimmunity, and open up possibilities for the development of new therapies. The study appears in the current issue of the journal Nature….

Reference

Ghoreschi K, Laurence A, Yang XP, Tato CM, McGeachy MJ, Konkel J, Ramos HL, Wei L, Davidson T, Bouladoux N, Grainger J, Chen Q, Kanno Y, Watford WT, Sun HW, Eberl G, Shevach E, Belkaid Y, Cua DJ, Chen W, O’Shea JJ. Enhanced Pathogenicity of Th17 cells Generated in the Absence of Transforming Growth Factor-ß Signaling. Nature. 2010 October 21;467(7318): 967-971.

 

 

October 27, 2010 Posted by | Health News Items | , | Leave a comment

   

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