Institute of Molecular Genetics of the Czech Academy of Sciences
There are thousands of rare diseases that are often insufficiently researched and for which there is no effective treatment. The Czech Centre for Phenogenomics (CCP), a large research infrastructure at the Institute of Molecular Genetics of the Czech Academy of Sciences, has therefore launched the RD-Factory program, which aims to find out more about these diseases, improve their diagnostics and help find possible treatments. To cover the diseases that most bother patients and their families, the call for disease nominations was open not only to experts, but also to patients themselves and patient organizations. October 28, which falls on the International Day of Rare Diseases, draws attention to the importance of scientific progress in this area.
In the first round, 45 genes and diseases were nominated, which were assessed by experts from the CCP and the Institute of Molecular and Translational Medicine of Palacký University in Olomouc. In the end, the experts selected 11 proposals, which is half more than originally planned. The expansion was allowed because CCP could include some projects into an ongoing program under the auspices of the International Mouse Phenotyping Consortium, which focuses on research of gene function and genetic mutations.
“The selection from nominated rare diseases had several aspects. We selected diseases that are currently not sufficiently researched and are not being intensively worked on elsewhere in the world. We also evaluated whether our expertise can advance knowledge about these diseases and whether the proposal is feasible from the point of view of our research capacity,” explains Radislav Sedláček, Director of the CCP.
List of selected diseases from the first round of nomination:
The call continues – the public can help too
Rare diseases seriously affect patients and their families. For most of these diseases, there is no suitable disease model on which the onset and course of the disease could be appropriately studied, and which would also allow testing of potential therapies.
“We perceive a significant social need to help those suffering from such diseases. That is why we decided to step outside our purely scientific world and turn to the general public, who can not only inspire us, but can also cooperate with us. Thanks to our many years of experience in discovering gene functions and preclinical testing of potential therapies, we have the expertise and background to be able to investigate rare diseases. We are aware of the great need for research of many other diseases, which is why the call for nominations continues with a second round, which will end in June 2025,” adds Radislav Sedláček.
The public and patient organisations welcome the researchers’ efforts to map rare diseases and want to participate in the research.
“We are very happy that the CCP researchers decided to focus on rare diseases and invited us, patient organisations and individual families to participate. When the call was opened and we informed our members about it, we noticed a high interest but also a lot of questions and uncertainty among people who were thinking about getting involved. So we held a webinar for them. There are a lot of white spaces in the field of rare diseases. It is good that we have top-level researchers in the Czech Republic who are able to push the boundaries of knowledge. We also appreciate that they are not only guided by their own scientific considerations in deciding the focus of their research, but also take into account the voices of people living with these diseases,” says Anna Arellanesová, president of the Rare Diseases Czech Republic association.
Helping patients and reducing uncertainty
The RD Factory scientific program seeks to understand selected diseases, describe them, and find ways to treat them, for example, with gene therapy or using existing drugs.
“First of all, it is not about developing a drug itself, that needs to be clarified, but in some cases that are suitable for this, we can design and test a treatment. Whether our findings will help to find a cure for some diseases is not a given. Our research is currently heading furthest into preclinical testing,” explains Sedláček.
According to him, the value of the program is not only that, thanks to it, experts may have a cure for some diseases in the future. It is mainly about understanding the diseases themselves and involving those who live with specific diseases in scientific work. “If we can provide doctors with knowledge about these diseases, they will be able to help their patients better. We understand that the uncertainty that accompanies rare unexplored diseases is very difficult for patients and doctors: there is no clear prognosis or ways to mitigate the progression and symptoms of the diseases. Thanks to our program, we can gradually reduce this uncertainty.”
Czech Centre for Phenogenomics (CCP) of the Institute of Molecular Genetics of the Czech Academy of Sciences is one of the leading international centres for the generation of mouse models for research on gene function and human diseases. With approximately 1,000 models developed, the CCP has become a key player in gene function discovery and preclinical testing of potential therapies. A second round of nominations is currently underway and closes on 30 June 2025.
Web pages on Rare Diseases – www.phenogenomics.cz/rare-diseases