IQS is proud to present the premiere of “Fighting the Rare,” a unique documentary about the importance of biomedical research in discovering treatments for rare diseases.
IQS is proud to present the premiere of "Fighting the Rare" a unique documentary about the importance of biomedical research in discovering treatments for rare diseases. Aimed at the general public, the documentary explains how scientific research is conducted on rare diseases, in this case Lafora disease.
The documentary was conceived by IQS (URL) and IBEC researcher Dr Jordi Duran, and supported thanks to collaboration with other universities and Spanish and international research centres.
On 26 June at 6:00 pm, IQS will host the presentation of the documentary, including a colloquium following the screening. Sign up for the premiere at this link: registration form.
Lafora disease is hereditary, neurodegenerative (the nervous system progressively degenerates), affects adolescents, and currently has no treatment. Its first symptoms appear during puberty and adolescence. Children who previously had no issues begin to have epileptic seizures that become more and more serious and do not respond to treatments. They gradually lose their faculties until they inevitably pass away 5-10 years after the appearance of the first symptoms. The process until death is extremely challenging, with rather frequent epileptic seizures, hallucinations, dementia, and so on.
The causes of the disease were not known until just a few years ago. Thanks to research done by various laboratories around the world, including the work of Dr Jordi Duran, it has been possible to identify the cause of Lafora disease, which has made it possible to start work on designing drugs to try to treat it.
Research on Lafora disease is a paradigmatic example of how a disease is studied, from its discovery to obtaining initial treatments. With the study of this disease as the overall theme, this project explains general concepts related to biology, medicine, diseases, the scientific process, and the importance of research.
International participation and the role of patient associations
In addition to Dr Jordi Duran as an expert on this disease, other Spanish and international experts and scientists have participated and played a key role in the research on Lafora disease: Dr Berge A. Minassian (University of Texas Southwestern Medical Center), Dr José María Serratosa (F. Jiménez Díaz Health Research Institute), Dr Matthew S. Gentry (University of Florida), and Dr Joan J. Guinovart (Biomedical Research Institute of Barcelona), as well as other researchers such as Dr Salvador Borrós and Dr Cristina Fornaguera (Institut Químic de Sarrià).
To understand the importance of patient associations, especially when it comes to rare diseases, the documentary includes testimonies from the US Lafora Disease Patient Association “Chelsea's Hope,” which has played a key role in promoting research on the disease. In addition, the exhibition "Brain(s)" – CCCB 2022 (which explores how art, science, and philosophy have studied and represented this fascinating organ throughout history) has been synergistically used to improve the narrative process of the documentary.
The documentary has received funding from the Catalan Foundation for Research and Innovation (FCRI – FCRI Joan Oró Call for Grants).
