Crippling disease secret uncovered

28th July 2008, 15:09 WST


Australian scientists have made a key breakthrough in a rare disease that leaves children crippled and wheelchair-bound by their teens.

The Sydney research team has discovered what triggers Friedreich's ataxia, a degenerative disease that attacks the muscles, nervous system and heart of children and leads to an early death due to heart problems.

Well known New York-based Australian artist, Theresa Byrnes, 39, suffers from the disease.

The condition is caused by a build-up of toxic iron in the body's cells, and now a team from the University of Sydney understands why.

"Our study examines the actual reason for why the disease develops and demonstrates for the first time the processes responsible for the iron loading," said Des Richardson, a professor of cancer cell biology at the University of Sydney.

He said understanding toxic iron accumulation opened up the possibility of developing drug treatments that could remove it.

"In fact, using novel drugs that remove the toxic iron, we were able to demonstrate that they could prevent some heart complications in an animal model of Friedreich's ataxia."

The team is carrying out further studies to investigate the effectiveness of the new drugs in preventing the neurodegenerative aspect of the disease.

Friedreich's ataxia is a rare, genetically inherited disease that affects males and females equally, severely impacting their coordination and walking but not their mental capacity.

There is no known cure but the condition can be managed, often into a person's 50s, with orthopaedic appliances, physical therapy and medication for heart problems.

The findings are published in the US journal Proceedings of the National Academy of Sciences.


The legacy of Marie Schlau: literature to help cure Friedreich's Ataxia

If you feel like reading an unputdownable novel while collaborating with a just and solidary cause, "The Legacy of Marie Schlau" is your book! 100% of all funds raised will be dedicated to medical research to find a cure for Friedreich's Ataxia, a neurodegenerative disease that affects mostly young people, shortening their life expectancy and confining them to a wheelchair.

The life of Marie Schlau, a German Jewish girl born in 1833 hides great unsolved mysteries: accidents, disappearances, enigmas, unknown diagnoses, disturbing murders, love, tenderness, greed, lies, death ... alternatively a different story unfolds every time and takes us closer to the present. Thus, there are two parallel stories unravelling, each in a different age and place, which surprisingly converge in a revelatory chapter.

Paperback and Kindle versions for "The legacy of Marie Schlau" available for sale at Amazon now!


Research projects currently being financed by BabelFAmily

Currently, BabelFAmily is financing two promising research projects aimed at finding a cure for Friedreich's Ataxia. Whenever you make a donation to us or purchase a copy of "The legacy of Marie Schlau", this is where all funds raised will be devoted to:

1) Gene Therapy for Friedreich's Ataxia research project:

The project is the result of an initiative of Spanish people affected by this rare disease who are grouped in GENEFA in collaboration with the Spanish Federation of Ataxias and the BabelFAmily. The Friedreich’s Ataxia Research Alliance (FARA), one of the main patients’ associations in the United States now joins the endeavour.

2) Frataxin delivery research project:
The associations of patients and families Babel Family and the Asociación Granadina de la Ataxia de Friedreich (ASOGAF) channel 80,000 euros of their donations (50% from each organisation) into a new 18-month project at the Institute for Research in Biomedicine (IRB Barcelona). The project specifically aims to complete a step necessary in order to move towards a future frataxin replacement therapy for the brain, where the reduction of this protein causes the most damage in patients with Friedreich’s Ataxia.

The study is headed by Ernest Giralt, head of the Peptides and Proteins Lab, who has many years of experience and is a recognised expert in peptide chemistry and new systems of through which to delivery drugs to the brain, such as peptide shuttles—molecules that have the capacity to carry the drug across the barrier that surrounds and protects the brain. Since the lab started its relation with these patients’ associations in 2013*, it has been developing another two projects into Friedrich’s Ataxia.



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