We are glad to share with you the monthly #RARETalk with Mrs. Begonya Nafría. Read the following interview to find out about her experience.
1) Welcome to the RE(ACT) Community Mrs. Begonya Nafría . Can you please introduce yourself to our readers?
First of all I would like to thank the RE(ACT) Community for giving us the chance to present the project Rare Commons. I’m the Patient Advocacy Manager of Sant Joan de Déu Children’s Hospital in Barcelona and also the coordinator of the research project Rare Commons. I also coordinate the Young Person’s Advisory Group, named Kids Barcelona. Integrated by 17 teenagers, the group helps us together with our Scientific Council in improving our different projects in the field of research, innovation and clinical trials.
2) What is Rare Commons? How does it work?
Rare Commons is a platform thought to design and develop clinical research projects on rare diseases that overcomes the language and geographical boundaries. The different ongoing research projects are accessible in Spanish, English and some of them in French and Italian. We work on an international level, because it is the only way to collect significant samples of patients and also significant clinical “smart” data. Thanks to this tool and with the potentiality of the collective intelligence and the expertise of the parents and patients, we are creating clinical databases that allow us to describe the natural history of the diseases. It is important because we can also analyze the correlation between genotype and phenotype.The methodology of the research is very easy. First of all, we empower and improve the knowledge level of the family, with scientific chapters; these educational materials are written by our doctors with an easy language. The goal is to share information about all the different aspects of the disease, from the beginning (the cause) to the future (about possible innovative treatments). When a family finishes to read one chapter, about one topic of the disease (for example about genetics) they are prepared to take a survey to collect the information about their son or daughter. When they finish, they can access the statistical information that we have at this moment with the close collaboration of the families. For every chapter the cycle is going to be repeated. If during this process the family has any doubt, Rare Commons offers the opportunity to address questions directly to the main researcher of the project, and also exchange with other families in a social area, named “social commons”.
3) Which rare diseases are you studying and what are the main results you have achieved with your projects?
We have four ongoing research projects, regarding Lowe syndrome, congenital disorders of glycosylation, NBIA and five hereditary retinal dystrophies. At this moment we are recruiting patients for two new projects about juvenile dermatomyositis and osteogenesis imperfecta.
In general two of the most important challenges we are facing about these projects are:
1. The collection of significant sample of patients.
2. The opportunity to leverage the expertise of the families and patients. We can loss important information if we don't work together with them and also If we don't include topics, measures and information that are very important in their daily life.
The specific and provisional results are published in our website: https://www.rarecommons.org/en/resultados
4) In your opinion which is the hardest challenge for scientific research on rare and orphan diseases? In which way realities like the RE(ACT) Community and Rare Commons could act as game changers in this scenario?
The first hardest challenge is to collect a significant sample of patients, because it requires time and a deep involvement of the patients association. In addition to that, it’s not easy to generate interest among basic researchers and drug companies. If we could collect important, exhaustive and huge clinical database working with similar symptoms we can help drug industries in the development of new orphan drug or other kind of treatments. The only way is to go-ahead working very closely together. The RE(ACT) Community and Rare Commons are platforms that can allow the connection between the different stakeholders involved in the research on rare diseases with an international and collaborative perspective.
5) Can you share three things you have learned from your professional experience that can help researchers and patients?
1. Quality of life is a measure sometimes more important for the patients and families than for researchers. The daily life can be very difficult if we don’t treat and consider the patient with a global view.
2. Families have a huge potential to act as co-researchers. We need to define outcomes and consider hypothesis of study that they can share with us.
3. The powerful of social media and Internet. We can't remain blind, it's a reality... patients and families research information and share experiences on the net. It's our responsibility to offer good information as experts in the healthcare and research disciplines.