By Dr Rob Hynds

My name is Dr Rob Hynds. I lead the Epithelial Cell Biology in Ear, Nose and Throat (ENT) Research (EpiCENTR) Group at the Zayed Centre for Research into Rare Disease in Children at the Great Ormond Street Institute of Child Health at University College London.

 

Which aspect of EB are you most interested in?

Our main focus is on EB patients who suffer from symptoms in their throat that affect their breathing. These upper airway issues in EB are relatively rare, but for some patients they are very severe and can even be life-threatening. For these children, fragility of the airway linings means swelling, blisters and wounds occur through the body’s natural process of ‘inflammation’. Over time, a build-up of scar tissue leads to narrowing of their airways and difficulty breathing. Unfortunately, there are currently very few treatment options available. We’re aiming to change this by improving our understanding of EB airways, investigating to see if we can repurpose therapies from other diseases to help in airway EB, and ultimately developing new solutions for these patients using a combined cell and gene therapy approach.

 

Who/what inspired you to work on EB?

Great Ormond Street Hospital (GOSH) is one of two national centres for the treatment of children with EB. There, Dr Colin Butler (ENT) and Mr Richard Hewitt, along with Prof Anna Martinez and Dr Gabriela Petrof (Dermatology), became interested in finding out more about EB patients with airway symptoms. Colin and I had worked together before on airway biology and thought that we might be able to put together a team capable of developing a cell therapy approach for these children. This, back in 2018, was my first foray into the EB field and the EB community has been incredibly welcoming. I continue to be inspired by all of the patients and their families that I’m privileged to meet and work with dsuring the course of our research.

 

Who’s on your team and what do they do to support your EB research?

Progress in EB is always going to need diversity to address different aspects of the disease and the potential solutions. As such, the EpiCENTR team combines people with scientific, medical and surgical backgrounds. In addition to the ENT and Dermatology teams at GOSH, Dr Chun Lau is the postdoctoral researcher who has led our DEBRA-funded cell and gene therapy work and Dr Lizzie Maughan is an ENT surgeon-scientist who has led our cell transplantation work. They have been supported by Dr David Pearce, Dr Jessica Orr, Drew Farr, Emily Kostina and Asma Laali, who work on various aspects of epithelial cell biology, tissue injury and scarring in the lab. We also have crucial collaborations with EB clinicians at King’s College London (Prof John McGrath) and bioengineers at University College London (Prof Wenhui Song).

 

What does the funding from DEBRA mean to you?

Our DEBRA funding represented our first steps into in EB research, so I’m very grateful for their support. Funding for rare disease research can be hard to come by, particularly in the current research funding environment, so DEBRA are doing vital work in supporting EB research in the UK and internationally. It’s not just about direct research funding though. I’m also grateful that DEBRA have connected us with the wider EB network, including researchers, patients and families, which also increases our chances of success.

 

What does a day in your life as an EB researcher look like?

A typical day involves a good mix of different activities. I do laboratory work myself, as well as supervise lab-based students and staff. One of our main techniques is cell culture, where we grow cells from EB patient airways in dishes in the lab. This has allowed us to really delve into the processes that happen in EB airways and to test our potential therapies. We also spend time analysing data, meeting with our collaborators, reading the latest work from others in the EB field, and writing up our own research for publications (like this one) or presentations. I also spend time writing grant proposals to maintain funding for our EB research.

 

What difference will your work make to people living with EB?

By improving our understanding of the way airway symptoms in EB arise, and identifying each step in how the disease progresses we hope that we can pave the way for more effective treatments. In the longer term, we hope to develop a cell and gene therapy that suppresses the inflammation and scarring in the airways, reducing complications, the number of interventions that patients endure, and ultimately their risk of severe respiratory complications.

 

How do you relax when you’re not working on EB?

I love football but I’m a Birmingham City fan so I’m not sure I can call that relaxing. I also enjoy running and ran the 2022 London Marathon with Team DEBRA!

 

What these words mean:

Inflammation = a natural process that brings immune cells to a part of the body and causes them to start actively fighting any germs

Cell therapy = placing new, healthy cells into the body to replace or repair damaged ones

Gene therapy = putting working genes into cells to replace missing or broken ones

 

Full glossary of scientific terms