Jose Bonafont, Lead Translational Scientists at the Great Ormond Street Hospital (GOSH) for Children NHS Foundation Trust in UK, explains in this interview the challenges and rewards of working in research for Rare Diseases.
1. How did you become interested in working in rare disease research and therapy?
I was very interested in genetics and gene therapy since I finished my BSc in Biotechnology. It is fascinating how we can now manipulate the human genome to achieve things such as curing a genetic diseases!
Most of the current gene therapies are focused on the treatment of monogenic diseases, and within this group lies plenty of rare diseases; That’s how I got into this amazing field.
Then, as soon as you start being involved in rare diseases research, you become closer and closer to the patients and families that they affect, and feel that you need to do something to help them.
2. Which type of rare disease your work is related to?
During my PhD. I was focused on the treatment of a rare skin disease called epidermolysis bullosa, a devastating skin disorder caused by mutations in a protein that links the two main layers of the skin, the epidermis and dermis, where patients develop blisters after even minor trauma. We developed different therapeutic approaches using CRISPR/Cas9 to achieve ex-vivo gene correction on skin patient cells that can be grafted onto the patient.
Last year, I joined GOSH and the UCL team to work more in rare blood disorders, where we are manufacturing genetically-modified CD34 cells for the treatment of rare disorders in Phase I/II Clinical Trials.
3. Was there any overarching reason for focusing your research on disorders like rare Blood disorders?
Most of these rare diseases do not have any treatment available because of so many reasons and I would love to contribute in changing this. Although the amount of people that could benefit from these treatments are lower than other diseases, they also deserve to have a solution. Most of the times these diseases are very aggressive and the patients and their families go through very difficult moments.
4. Could you talk a little bit about Great Ormond Street Hospital (GOSH) and its connection with rare diseases?
GOSH was the first hospital focused on pediatrics in the UK, and our department at the hospital is participating in plenty of gene therapy clinical trials and is in a joint research unit with UCL, being very close to world-leading research. This union is making the hospital a pioneer in gene and cell therapies worldwide.
5. How well equipped do you think the UK is in encouraging biotech innovation and research?
It is fascinating how hospitals, research centers, and companies are getting involved in gene and cell therapy and biotech innovation in UK. There are a lot of resources, grants, job positions available to enhance biotech innovation. And the coolest thing is that you can see them growing in number every day. Cities such as London, Cambridge or Oxford are creating an amazing biotech network.
6. How is it like to navigate the funding landscape for a rare disease gene therapy company?
The treatments are very expensive at the moment because of the cost of all the reagents and consumables, that is why the projects need to be funded with lot of money from investors. But the results are changing the way we treat diseases and are very interesting for lot of investors, so I think there are plenty of opportunities for promising developments that are happening right now on the lab bench.
7. Is there anything you would like to say to any scientists about rare disease research and the pursuit of treatment equity?
It is very important to keep funding basic research to elucidate the molecular basis of these rare diseases and to promote the develop of treatments and translational research.
Also, improvements on vector production for gene therapies could impact the cost of these therapies, and in the near-future offer more affordable options that can start an even bigger revolution in modern medicine.
It is also important to be open to collaborate with pharma-biotech companies as well as other labs and institutions to get stronger and offer to the world the best solution. Together we can change the future.