“We are very pleased with the trust that has been placed in us,” says Professor Testi, the FAST project’s Principal Investigator, “and we also feel a real sense of responsibility. We hope that this attention is subsequently reinforced in the next Framework Programme, in line with the significant investments that, for some years now, the big pharmaceutical and biotechnology companies have been earmarking for the development of ‘orphan’ drugs; that is to say, drugs to treat diseases that are relatively less common.”

Brief interview with Professor Roberto Testi

 

The project headed by Professor Roberto Testi of the Tor Vergata University of Rome, entitled “Friedreich’s Ataxia - Research into new Strategies for Treatment”, is being funded by the European Reseach Council with one and a half million euro over three years and is aimed at research into a treatment for Friedreich’s Ataxia (FA).

What type of disease is Friedreich’s Ataxia and what are the symptoms?

Friedreich’s Ataxia, or FA, is a generative genetic disease that affects children and adolescents, generally between the ages of five and fifteen. Young patients will begin to experience motor coordination problems which, more or less rapidly, will cause severe disabilities often associated with heart failure and a reduced life expectancy. FA patients take antioxidant medication, although to date there is no specific treatment for FA. The genetic defect that causes FA is in fact related to the gene responsible for the production of a protein known as frataxin. In FA patients, the gene does not work effectively, for which reason production of the protein frataxin is scarce. Low concentrations of frataxin result in the death of cells essential to motor coordination.

What therapeutic approach does your research project propose?

Some therapeutic approaches currently being investigated by other research groups worldwide are aimed at replacing the faulty gene or at re-establishing its correct functioning. Our project is totally different and innovative. The aim is to enable patients to use the little protein they produce in its entirety. Indeed, we have discovered that a part of the frataxin produced by patients is destroyed before it is used.

Have you considered preventative medication?

Yes. We also developed potential drugs that may be able to prevent this destruction and consequently increase the available concentrations of frataxin in patients. Over the next three years, we will seek to understand if these drugs work in an animal model that simulates FA, in order to choose the most effective and best tolerated, and after that to proceed to clinical trials in patients.

Source article  /  Source interview

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!

https://www.amazon.com/Legacy-Marie-Schlau-collective-Friedreichs-ebook/dp/B01N28AFWZ

 

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:

https://www.irbbarcelona.org/en/news/international-patient-advocates-partner-to-fund-spanish-gene-therapy-project-to-treat

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:

https://www.irbbarcelona.org/en/news/new-research-front-to-tackle-friedreichs-ataxia
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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