We want to present the research of Martine Tétreault Assistant professor Department of neuroscience, University of Montreal The identification of the genetic causes and mechanisms associated with rare Mendelian diseases has always been an important challenge for the medical field. The identification of mutations and/or genes associated with a disease...

Hello dear reader! First, I want to apologize for the rate of publication of articles on this blog that has recently slowed down: the correction of my future publication takes me a lot of time, sorry! Also, I want to respond to a comment from a reader: I did not...

Darrin Rein is  self-employed as an IT Consultant in Kamloops British Columbia. He has a rare disease called Spinocerebellar Ataxia (SCA), check out his blog at: https://whatdawhat.blogspot.com   Explaining my condition to people is not exactly on my top 10 list.  But if someone ever wants to know or understand,...

Current and emerging therapies for Friedrich’s Ataxia (FA) focus on reversing the deleterious effects of such deficiency including mitochondrial augmentation and increasing frataxin levels, providing the possibility of treatment options for this physiologically complex, multisystem disorder. In this review article, the authors discuss the current and prior in vivo and...

Dear reader! So, how is it going this week? Me, more than well: Boston lost (NHL) in the Stanley Cup final – niark, niark! I … No, but no kidding, that cumulated with the  victory of the Toronto Raptors (NBA) stamped a smile on face for a few days. :...

Hi reader! So, how are you doing this week? I buried the hatchet with my Ataxia. I find it hard to imagine that anyone could have pity on me; I know how to take advantage of the little that I have. I am as happy as anyone, or more, after...

Dear reader! So, what’s new these days? For my part, I’m waiting for news from my editor, patiently, about the publication of the manuscript that I sent him some time ago! If you are nice, maybe I’ll talked about this new in my next blog. In the meantime, I’m going...