Do you know it was Ataxia Awareness Day a few days ago?I asked my friends to ask me about ataxia 🙂 And here you can see all my answers! Remember that these are my answers and that I have SCA1 and I have no idea how your ataxia looks like. That is why I can’t tell anything for sure. What is ataxia? Ataxia is a neurodegenerative and hereditary illness. I have no influence on it, I inherit it and it is. It’s encoded in my genes. This is not one bad gene, but a bad effect. We all have this
Nobody will say it out loud yet, because there are still many unknowns, so I will say it. Hey, there MIGHT be a cure! I guess. It seems that yes, there is. I am not going to convince you of the correctness of my suspicions, but I will share the information I have gained. I am talking about gene therapy based on the action of antisense oligonucleotides, which are probably effective in reducing the harmful activity of excess proteins that are produced by ataxia. Ok, that may sound complicated so I hope this graphic will help you understand: Unfortunately, I
I am going to share some awesome thins I saw during the AAC conference. These initiatives are focused around the topic of Ataxia. ASPER BIOGENE Asper Biogene is a genetic testing company focused on diagnostics of hereditary diseases. Our comprehensive testing options vary from single gene analysis to whole genome sequencing. Website: https://www.asperbio.com/ FB: https://www.facebook.com/Asperbio/ ATAXIA: THE DOCUMENTARY A documentary work-in-progress that follows researchers on a quest to develop therapeutics for Ataxia, capturing the day-to-day experiences – setbacks, realities, and triumphs – of individuals coping with the disease. Website: https://ataxiadocumentary.com/ BIOHAVEN PHARMACEUTICALS Biohaven is a biopharmaceutical company focused on the
On the last day of the conference, the famous „Birds of Feather” event took place. From the very first day all the organizers admired and announced its amazingness. I did not know how it differs from the ‘networking’ panel, except for the target group, because so far we have talked in various randomly selected groups; while BOF was a group of people with SCA1. We are connected not only by this one nasty ATXN1 gene but also by an interest in the same research. And frankly speaking, I was delighted to finally be able to talk to someone experienced in
Why is the Conference Exhibit Hall so awesome? The third day was the day of integration. I don’t know if there was any lecture that wasn’t live and with the involvement of participants via chat or camera. During the conference, you can listen to lectures, integrate with other participants, but also watch materials provided by sponsors and other companies and initiatives dealing with ataxia. I am talking about Exhibit Hall. Today I discovered this option and well – I’m delighted. By clicking on the appropriate logos, you can get acquainted with scientific institutes that either find the right medicine or
Day two was really great! I don’t have the strength to write everything, but many more scientific as well as ordinary life issues were raised. Finding a cure for ataxia comes down to two approaches – looking for the drug, the substance, and/or helpful genetic therapy that could modify the abnormal genome. Dr. Marie Davis’s speech was extremely interesting because, using wonderful analogies, she explained what the leading trends in genetic therapies are all about. Basically there are three: Antisense oligonucleotides (ASO) Viral (AAV – mediated gene replacement CRISPR Cas 9 Genome Editing I suspect that someday I will write
In the beginning, I would like to emphasize how incredibly happy I am that I can take part in it. I did not assume that I would ever be able to be there. Not only because of the distance, but also finances. Such a trip would be incredibly expensive. Anyway, now I can take part in it and I am glad that it has such an online form. The conference is not only about lectures, but there are also many opportunities to share photos, play happy games or talk to specialists or other ataxians. The first short meeting was a
Since we learned about vaccines, many of us have wondered how vaccines can be affected by ataxia. I suspected that it probably doesn’t have any effect, but I preferred to check with the doctor. If you are still wondering about it, here I am with some helpful tips. Recently, the NAF published a webinar in which several vaccine specialists talked to each other. I will link this webinar below and if you have a free hour, you can listen to it. If not, I will try to briefly present the most important issues. In the beginning, Boris Juelg described the
Hello! ^^ On March 10-13, an online conference on ataxia will be held, organized by NAF. I am delighted with this solution – so far the possibility of taking part in this event was unattainable for me. But now? I am already signed up and I am going to comfortably watch the lectures from my home in Poland and I will be happy to share my thoughts with you. NAF organizes its events in a wonderful way – even previous conferences were available to watch online. Not entirely, but the most important speeches were. I remember watching one of the
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