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The genetic defect causing SCA28 was discovered in a study conducted by Franco Taroni, a researcher at Milan’s Carlo Besta Neurological Institute, in collaboration with Marco Muzi-Falconi of the Research University of Milan. Funded by the Telethon, the study was published in the journal Nature Genetics.
Although it is often a result of infection, toxic exposure, or radiation, ataxia can also be of a genetic origin, as is true for SCA28. These cases are called hereditary ataxias, and it’s estimated that in Italy some 5,000 individuals are affected, some with childhood-onset ataxias, and others with adult-onset ataxias, but always with a progression of symptoms over time. Although the various forms have essentially the same symptoms, the different hereditary ataxias are caused by a variety of genetic defects.
SCA28 is a newly discovered form of ataxia, which Taroni diagnosed for the first time in the world in an Italian family. This form is inherited, like many of the hereditary ataxias, in an autosomal dominant pattern: it will appear in an individual who receives just one defective copy of the relevant gene from either of the parents, who each contribute two copies of every gene. The parent contributing the defective gene is also affected by the disease, since it only requires one copy of the defective gene to be affected; however, symptoms often do not appear until middle age, after an affected parent has already had children.
In studying the DNA of several patients who had an undiagnosed or unspecified form of ataxia (which is true for about half of those affected with an hereditary ataxia), the Milanese researchers were able first to locate the gene involved, then to precisely identify it and to define the specific alterations responsible for the disease. The gene involved in SCA28 is called the AFG3L2 gene.
The Milanese group’s work has an immediate impact in the diagnostic field, which is particularly important in the case of a group of diseases caused by such a diversity of genetic defects. Looking ahead, the researchers’ next step will be to look further into the mechanism of SCA28. Franco Taroni’s work is also supported by Auchan.
About Telethon Italy see: http://www.telethon.it/english/default.aspx
Telethon Italy fundraising depends primarily on a solidarity marathon presented on RAI TV channels in December: in 2008-2009, 33.4 million Euros were raised.
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.
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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.