Institute of Molecular Genetics of the Czech Academy of Sciences
On Saturday, August 31, 2024, the second year of the „Run with Emergency Services“ charity race took place in Šumperk. The event was organized by the Šumperk Fire Brigade, in cooperation with the police and rescue service of the Olomouc Region. The main face of this year’s competition was ten-years-old Amálka, who was born with a serious genetic skin disease called Harlequin ichthyosis. Her family decided that the money would help not only Amálka, but also other children with a similar fate. The proceeds from the event, a total amount of 146,268 CZK, will be donated to research and treatment of skin diseases at the Institute of Molecular Genetics of the Czech Academy of Sciences (IMG).
Among 198 competitors of all ages was also Adéla Uhrová from the Laboratory of Transgenic Disease Models at the Czech Centre for Phenogenomics (CCP).
“I am very happy that I managed to get in touch with Amálka’s mother and I was able to participate in the race. The whole event was perfectly organized. From the run to the accompanying program. I was pleasantly surprised how many sponsors are willing to participate on the event. Everyone was trying to get the largest collected amount as possible. Amálka’s parents decided to donate the financial gain to Harlequin’s ichthyosis research, which we conduct at CCP,” says Adéla Uhrová, who finished in the beautiful 25th place in the 5 km category.
And how exactly will be the collected funds used in the CCP? Jan Procházka, deputy director, answers:
“First of all, I would like to thank everyone who participated in the charity event and contributed to a good cause. We will use the proceeds for the logistics of a mouse model from faraway Australia,” explains Jan Procházka and describes the next steps of gene therapy: ” Amálka’s gene that serves as a fat transport train to the upper layer of the skin does not work, which means that the skin does not lubricate, and new cells do not connect. Simply said, Amálka does not have a good skin barrier. In order to verify if the therapy will work, we have to develop a mouse double of Amálka at first.”
What does this mean in practice? “On a mouse model, we will try a therapy that consists of inserting a functional variant of a gene that does not work for Amálka (ABCA12). We will introduce it into the body of the mouse using a viral envelope, which is going to be written into the genome by reverse transcription and then should start working. And thus, take over the function of a transport train of fats,” adds Adéla Uhrová from CCP.
Become a hero
“We would like to thank all our supporters and donors. We also would like to express our great thanks to all our volunteers and sponsors, because without them the charity event could not take place. We will look forward to seeing you next year as well,” said Jaroslav Hýbl on behalf of the organizers from the Šumperk fire station. Last year, Emergency Services organized a similar event for a sick boy who suffered from a dyskinetic-spastic form of polio, around CZK 60,000 was collected.
