Czech team of scientists discovers genetic cause of Kufs disease
A team from Prague’s Institute of Inherited Metabolic Disorders has discovered the genetic cause of Kufs disease, a very rare condition that leads to seizures, impaired muscle function and dementia in adult life and for which there is no cure. Scientists of the Prague institute found that the reason behind the disease is a mutation in the gene DNAJC5. Dr. Stanislav Kmoch, who worked on the project for three years with his team, speaks about the discovery.
What exactly is the significance of this discovery for the treatment of this disease?
Is Kufs disease relatively rare and are there some numbers of how many people are affected by it worldwide?
“Yes, it is quite a rare disease and that is a field where we do research, there are some 8000 rare diseases in it and this is one of them. We know about 30 families around the world that are affected, and in the Czech Republic, we are only aware of a single family affected.”
How long did you work on this project?
“We worked three years on this particular project, but now similar projects have been greatly accelerated by novel techniques such as next generation sequencing and genome sequencing.”
I believe that the team at the Institute for Inherited Metabolic Disorders, where you work, has also made similar discoveries of genetic causes of some diseases. What other discoveries did you make?
“This is the research interest of my group, so we are interested in identifying genetic causes of various genetic disorders, and in the last few years, we discovered causal mutation in eye diseases, kidney and heart diseases. So we work on a number of medical disciplines and subjects.”