Category: Terminology
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Terminology: Gene Therapy
The question here is whether it’s correct—as was done by article writers in 2019—to treat gene silencing as not a kind of gene therapy. For example, 2019-05-24: Zolgensma (based on proprietary [secret] viral gene therapy). Claimed selling point: first and only gene therapy for SMA. First and only? Only if ASO gene silencing doesn’t count…
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Terminology: Keep A-Knockin’
Knockout, knock-in: what’s the deal? It sounds like they are opposites; are they? The context When talking about gene knockout and gene knock-in, we are talking about the initial creation of non-human animals (fruit flies, worms, mice, fish, pigs, etc.) using genetic engineering, then breeding them for multiple generations. Yes, they were originally genetically engineered…
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Terminology: When It’s Social
Perhaps I’m borderline autistic—missing social cues. It sometimes takes years for me to realize that my SCA3 problems have all along been commonly referred to using terms that don’t “connect” with me. Twitch vs. tremor My right arm biceps muscle recently started gently twitching randomly (not rhythmically) once or twice every few seconds, as long…
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Can You Repeat That?
Information was consolidated here that used to be elsewhere on this blog, then expanded. This page is highly specific to SCA3, which I have. In the beginning… The neurons (brain nerve cells) in the cerebellum initially form at the 6th or 7th week of embryonic development, just before the fetal stage, and with SCA3, they…
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Stem Cell Terminology
There was a recent article that I found difficult to read without looking up many terms. It seemed worthwhile to use it as a learning exercise. Here’s the original article (an abstract): 2017-06-30: “Human Umbilical Cord Mesenchymal Stem Cells Protect Against SCA3 by Modulating the Level of 70 kD Heat Shock Protein” Here it is…
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Quel Che Sarà Sarà
SARA—Scale for Assessment and Rating of Ataxia. This is an 8-category, 40-point scale. This scale assesses a single numeric value from 0 – 40 to reflect the combined severity of one’s ataxia symptoms. Category summary: SARA is used by neurologists to assess an individual patient’s decline. Different people with the same score will have a…
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Shut Up, Genes (ASOs and RNAi)
Antisense oligonucleotides (ASOs; sometimes abbreviated as AONs) are a form of gene silencing discovered in 1978. The first ASO drug was approved by the FDA 20 years later in 1998. Another form of gene silencing is RNA interference (RNAi) and was discovered in 1998. The first RNAi drug was approved by the FDA 20 years…
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What is BHV-4157?
2018-08-14. Trigriluzole was renamed to troriluzole. On 2018-11-02, most references to trigriluzole and BHV-4157 were removed from the Biohaven website. 2017-October: After SCA trials failed, Biohaven was quick to remove some SCA-related information from their website (hence, some broken URLs). See here. Later, they resumed testing after doubling the dose. 2017-April (or so): Biohaven removed…
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Stranger in a Strange Land
The world would be a strange place if everyone in it grokked the ataxia family of diseases. What does the average person have to gain by educating themselves on one rare disease, if it doesn’t affect them, and there are thousands of rare diseases? Nothing. I don’t know if this is a real quote, but…
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Symptom? Disease? Disorder?
Is ataxia a symptom? Yes, it can be. Ataxia (i.e., lack of coordination), specifically gait ataxia, is a symptom of many diseases and conditions, including the hereditary ataxias, being drunk, being an undeveloped baby, etc. Is ataxia a disease? Yes, it can be, though only as shorthand for a longer disease name, such as spinocerebellar…