Author Archives: Kara Elam

A case study of a Freidreich’s ataxia (FA) patient with associated cardiomyopathy reported that an experimental treatment — interferon gamma (INFγ) therapy — could improve cardiac function. The study, “Interferon gamma may improve cardiac function in Friedreich’s ataxia cardiomyopathy,” was recently published in International Journal of Cardiology. INFγ is an important cell signaling molecule,…

Pfizer has published a study with potentially important implications for future therapeutic targets to treat Friedreich’s ataxia (FA). The study, titled “Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin,” was conducted through Pfizer’s Rare Disease Research…

Researchers have shown that a potential new therapeutic target for patients with Friedreich’s ataxia (FA) could be a mutation that causes misfolding in specific proteins, which results in lowered protein concentrations. The study, led by senior scientists at the Department of Basic and Clinical Neuroscience, Maurice Wohl Institute, King’s…

A collaborative team of international researchers led by the Don Carlo Gnocchi Onlus Foundation, in Milan, Italy have shown that outcomes measured using robotic devices can improve the sensitivity of clinical evaluations for patients with Friedreich’s Ataxia (FA) in regards to dexterity and disease progression over time.  The study, entitled,…

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…

The National Ataxia Foundation (NAF), an organization dedicated to improving the lives of those affected by ataxia through support, education, and research, recently released a list of study proposals awarded funding for 2015. One of the awarded proposals, written by a post-doctoral candidate, Dr. Yu Miyazaki, M.D., Ph.D.