Mice and genetic scissors help find treatment for the happy child syndrome
01. 03. 2022
Researchers from the Czech Centre for Phenogenomics have been developing mouse models that help to discover the causes of human diseases and enable testing of new therapies. These include cancer, diabetes, infertility, but also rare diseases. 300 million people worldwide suffer from rare, with approximately 600 000 in the Czech Republic. These diseases are most often manifested shortly after birth.
Oliver was born a healthy boy. At the age of about four months, his parents noticed a slight delay in development. When he was a year old, genetic tests revealed Angelman syndrome, an incurable rare disease.
Frequent smiles and good mood gave this disease the unofficial name of the “happy child” syndrome. Children who suffer from it are referred to as “angels”. However, there is another side to the diagnosis. This involves decreased intellect, problems with motor skills and sleep, epileptic seizures. “Angel” children never speak, they communicate only with simple pictograms. For the rest of their lives, they are dependent on the care of others.
Orphan diseases
In Europe, a rare disease is defined as one that affects less than one person out of a 2000. More than 7000 rare diseases have been identified in the world. They are characterised by a wide variety of disorders and symptoms that vary from disease to disease and patient to patient even in people suffering from the same disease.
Due to the low prevalence of each disease, there is a lack of medical specialisation and detailed knowledge of each disease. Research in this area is also limited, not only because of the low economic returns. Despite the large total number of rare diseases, patients become “orphans” of health systems, as diagnosis, treatment and access to research results are often inadequate.
“72% of rare diseases have a genetic basis. This is where the Czech Centre for Phenogenomics can help. We create genetically engineered mouse models with a non-functional gene. This allows to model a human disease,” says Radislav Sedláček, Director of the Centre, which is part of the Institute of Molecular Genetics of the Czech Academy of Sciences in the BIOCEV Centre.
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The Czech Academy of Sciences (the CAS)
The mission of the CAS
The primary mission of the CAS is to conduct research in a broad spectrum of natural, technical and social sciences as well as humanities. This research aims to advance progress of scientific knowledge at the international level, considering, however, the specific needs of the Czech society and the national culture.
President of the CAS
Prof. Eva Zažímalová has started her second term of office in May 2021. She is a respected scientist, and a Professor of Plant Anatomy and Physiology.
She is also a part of GCSA of the EU.