There is a group of diseases, 95% as yet untreatable, that affects more people worldwide than the number of cancer and AIDS patients combined.
There are about 7000 known rare diseases and half a million people in the Czech Republic (and 300 million worldwide) suffer from them.Many of them can be helped by gene therapy - a modern treatment whose development is based on the knowledge of genes, which are studied by scientists of the Czech Centre for Phenogenomics (CCP). Rare diseases are most often diagnosed in childhood and have a variety of manifestations - from muscle weakness to severe immune disorders to severe intellectual disability. Cutting-edge genetic research, which is also underway at CCP, is therefore important to finding an effective cure.
Thousands of cases a year - without treatment
Most of the mutations that cause rare congenital diseases arise by chance, and sick children are born to perfectly healthy parents who don't expect it. Lenka Hajgajda, whose family and her husband's family have no history of rare diseases, knows this:
"When the doctors told us that our one-year-old son was terminally ill, my heart stopped. The diagnosis was Angelman syndrome - a genetic disorder causing severe mental retardation. But we decided to confront this reality, so we set out to support basic research, followed by developments with the potential to treat hundreds, if not thousands, of genetic diseases," says the mother of now seven-year-old Oliver.
Treatment development can be accelerated
Many other families are experiencing a similar shock. Around 10,000 cases of rare diseases are diagnosed in the Czech Republic every year, three-quarters of them in children. Since some treatment exists for only about 5% of these diagnoses, research and development of new treatments is almost always the only hope. The speed with which any scientific research progresses is largely influenced by funding. Funds allow us to expand research teams, upgrade technological equipment and establish further collaborations with top centres around the world.
Researchers at CCP have already gained an international reputation for creating genetically engineered mouse models with a non-functional gene on which they can model human disease. Approximately 98% of mouse genes are similar to human genes.
"There are genes that do not have a particular impact directly on physiology, but may nevertheless play a role in disease. The function of other genes, about a third of which are important, is so important that if we knock them out of function, the embryo will not develop and the mouse will not be born. And it is these genes that often cause diseases and problems in fetal development," said Radislav Sedláček, the centre's director.
GHC Genetics is proud to be a partner of the Hajgajd couple's gene therapy company Asgent