Research Target

The aim of the research is the study of selected genes and biological processes which take a part in the Angelman syndrome development. This understanding could be important for finding the cure for genetic disorders.

Radislav Sedlacek, Assoc. Prof., PhD director of Czech Centre for Phenogenomics
(large research infrastructure) included Angelman syndrome as the research subject because of number of reasons.

In case of Angelman syndrome is single gene disorder localised on the 15th chromosome (15q11-13). This area is also responsible for Prader-Wili syndrome were there in number of genes and biological processes not well researched, yet. In case of Angelman syndrome brain itself is from the physiological point of view in order – not dammaged. Neurons are developed but due to missing protein eg. UBE3A which production is impaired does not function as their should.

There are several ways research will go.

First of all, it is important to obtain new mouse models of human genetic disorder using the CRISPR / Cas method. This is already happening and is expected to begin to be investigated in the first half of 2019.

Until now, similar models have been studied only partially, but the Czech Center for Phenogenomics have a specially developed platform one of the best in the world where up to 1000 parameters from the main physiological systems can be obtained in a one run, thus enabling us to get comprehensive picture of the function of any gene or biological process.

In addition, the phenomenon of so-called gene silencing will be investigated, a biological phenomenon that is also responsible for the malfunction of gene activity regulation.

Here, the research institute will also use new molecular tools, such as CRISPR/Cas technology, which opens up faster and more precise work in genetics.

Answers to the questions that this research puts at the beginning can help to find tools and mechanisms for the future cure of some of the hundreds not only genetic diseases.

Science in this area is moving by big leaps.

We met outstanding scientists who are also excellent people and we are grateful to support their research activities. For this reason, we founded the Association of Gene Therapy, z.s., whats main aim is to actively support these activities.
Help us whatever way you like. You will support research at world level with tremendous potential.