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News from the research

News from the research
15. 3. 2019 | Category: Research

The Czech Centre for Phenogenomics (CCP) – The place where we initiated the research. Project is running from the last year under supervision our scientific board member director of CCP assoc. Prof. Radislav Sedláček PhD.

We met with Mr. Sedláček on beginning of March to learn news on the research.

We have two mouse mutant models created by CRISPR/Cas method with modified gene causing Angelman syndrome. First trials are expected to begin during coming weeks by un-silencing of paternal allele of UBE3A gene.

CRISPR/Cas9 is gene editing method is one of the newest methods in genetic engineering which is more accurate, faster and cheaper than so far used methods.

Paternal and maternal allele– man is born with half of genetic information from mother and half from the father (paternal = father´s part of DNA, maternal = mother´s part of DNA).

Depending on the body organ only one allele could be expressed, father´s or mother´s one. In case off gene UBE3A which codes enzyme E3A in the brain only maternal allele is expressed.

If mother´s gene is damaged or missing lack of E3A enzyme causes Angelman syndrome. Father´s gen which codes the same protein is present in the brain as well, but it is so called silenced (methylated).

Aim of the first trials is un-silencing of father´s gen allele which should lead to missing enzyme production.

 

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