News

A study recently published in the journal The Cerebellum assessed the genetic expression of particular genes putatively related to Friedreich’s ataxia disease. The study is entitled “Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients” and was developed by researchers at…

A study published in the Journal of Neurology, Neurosurgery and Psychiatry analyzed the performance of four different tools in the assessment of disease progression in Friedreich’s ataxia patients. The study is entitled “A study of up to 12 years of follow-up of Friedreich ataxia…

A study led by researchers at the University of Duisburg-Essen in Germany revealed structural and functional alterations in the cerebellum of patients with hereditary ataxia disorders, namely spinocerebellar ataxia (SCA) and Friedreich’s ataxia. The study was published in the journal Brain and is entitled “…

The Friedrich’s Ataxia Research Alliance (FARA), a non-profit organization that supports scientific research aimed at finding treatments and a cure for FA, will be the benefactor of charity biking event rideATAXIA, which will feature biking icon and star of the movie “The Ataxian“, Kyle Bryant. The 4th year of RideATAXIA…

A recent study published in the journal Pharmacological Research revealed a new potential therapeutic strategy against Friedreich’s ataxia in cell models. The study is entitled “Targeting lipid peroxidation and mitochondrial imbalance in Friedreich’s ataxia” and was led by researchers at the UCL Institute of…

Researchers at Sawai Man Singh Medical College in India recently reported a case of a Friedreich’s ataxia patient with an abnormal rare movement manifestation. The study was published in the journal SpringerPlus and entitled “Familial segmental spinal myoclonus: a rare clinical feature of…

Researchers at Hacettepe University and Maltepe University in Turkey recently reported that Friedreich’s ataxia patients experience hair alterations. The study was published in the journal Microscopy Research and Technique and is entitled “Ultra-structural hair alterations in Friedreich’s ataxia: A scanning electron microscopic…

An international research team has recently published in the journal BMC Medical Genetics a large cohort analysis of Algerian patients with different forms of ataxia. The study is entitled “Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia”.

BioBlast Pharma Ltd. (NasdaqGM: ORPN), a clinical-stage orphan disease-focused biotechnology company whose mission is to transform excellent science into safe and effective therapies for rare genetic diseases, has recently presented pre-clinical proofs of concept for two of its therapeutic platforms at two important scientific meetings that focus on rare…

Researchers at the University of California, Davis (UC Davis) recently conducted a review study on data concerning the link between oxidative stress and inherited mitochondrial diseases like Friedreich’s ataxia. The study was published in the journal Free Radical Biology and Medicine and is entitled “…