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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 “…

Often times, researchers focus on cells from the brain or the heart when studying Friedreich’s ataxia. A new study from Brunel University London and University of Cambridge in the United Kingdom chose instead to focus on blood leukocytes and skin fibroblasts from patients with Friedreich’s ataxia. The reasoning was based…

A team led by researchers at the Universidad Autónoma de Madrid in Spain recently published new data on a gene therapy for Friedreich’s ataxia based on the expression of the human frataxin gene from artificial systems. The study is entitled “Delivery of the 135 kb human…

Horizon Pharma has recently announced it initiated a Phase 3 study evaluating the Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich’s Ataxia study (“STEADFAST”) of ACTIMMUNE (interferon gamma-1b) for the treatment of people with Friedreich’s Ataxia (FA). ACTIMMUNE (Interferon gamma 1-b) is a biologically manufactured protein similar to…

A remarkable new tool in the world of genetic biology is being applied to study Friedreich’s ataxia. TALEN and CRISPR methodologies, which have been the subjects of recent patent battles, are powerful gene modifying techniques that can easily add or remove sequences to mimic the mutations…

Maintaining iron balance in the mitochondria is of great importance to cell health and is a prominent area of study to understand Friedreich’s ataxia. Frataxin protein deficiency in Friedreich’s ataxia leads to accumulation of iron in the mitochondria, leading to extensive reactive oxygen species (ROS) damage and cell death. A group…

Patients with Friedreich’s ataxia are at a high risk for developing hypertrophic cardiomyopathy, where the walls of the heart become thicker than normal. Little is known about hypertrophic cardiomyopathy disease progression in Friedreich’s ataxia patients, although the condition can be severely life-limiting. To address this lack…

A new study led by researchers at University of Rome ‘Tor Vergata’ in Italy recently revealed that inhibitors of the Src protein kinase can represent a potential new therapeutic strategy against Friedreich’s ataxia. The study is entitled “Src inhibitors modulate frataxin protein levels” and was published…

Rating scales used to succinctly describe the severity of Friedreich’s ataxia and the impact on patients’ quality of life have a tradeoff between being comprehensive enough to adequately describe patient symptoms and overly detailed and complicated. A new study published in Journal of the Neurological Sciences…