Name: Paula Rio, PhD
Institution: Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-ISCIII) and Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD/UAM), Madrid, Spain
Area of expertise: Gene therapy and gene editing
My work is focused on gene therapy and gene editing strategies to correct hematopoietic stem cells in Fanconi anemia patients. Led by Dr. Juan Bueren and together with my dear friend Dr. Susana Navarro, we work on the characterization and follow up of the stem cells from FA patients in Spain. In collaboration with Dr. Julian Sevilla and other members of the FA network in Spain, we are conducting a phase I/II gene therapy trial to correct hematopoietic progenitors from FA patients using lentiviral vectors. Together with Rocket Pharma we are participating in a new phase II gene therapy trial. I am also working on another project with my own lab, which is more focused on gene editing strategies to correct hematopoietic stem cells from FA patients. When I started to work on gene therapy, gene editing was like a dream. Now my dream is that in the future we can conduct in vivo gene correction in FA hematopoietic stem cells.
The patients and the families; that is clear for me. When I was an undergraduate student, I realized that I would like to work in genetic engineering to correct inherited disorders, but I could never even have dreamed of working on a project like this. I did my PhD in Dr. Bueren´s lab working on the characterization of the Fanca knock-out mouse model and the first therapeutic vectors to correct mouse hematopoietic stem cells. At that time, Dr. Bueren started to collaborate with clinicians, patients and researchers and he realized that there were many things to do for the patients, and together we established an FA network in Spain. I never thought about meeting a patient with FA when I was initially working on the mouse model. It is difficult to explain what you feel. You are working really hard to get results for your project but suddenly you meet patients and families, and you see that they really trust you and what you are doing. You find the most important reason to work and go on, repeat and try again, no matter how many times. This is what motivates me and our team the most. When new students in the lab meet with patients and families, their way of thinking about work changes completely. It is not a job any more…it is a commitment.
With the people that I love. My family and my friends are my life! That is my way of charging my batteries to keep going. I love having a good time together doing simple things: talking, going for a walk, dinner, cinema…overall, just sharing time with them. There are also times you won’t be able to find me because I also like traveling!
I admire you. I have learned many things from all of you. I am really grateful for the opportunity you have given us to meet such strong people and to encourage us to go on working. I feel really lucky to have found this incredible community of people. Every time we meet people with FA and families, it is a new burst of energy for us to go on working on this disease.
You all can be completely sure that the Spanish team will continue to do everything possible to improve your quality of life.