Dr Linda Popplewell, Department of Biological Sciences, has recently developed a drug which has been approved for use in a particular group of patients, for Muscular Dystrophy. Linda has also been involved in our recent 'Rare Disease Day' event, which took place on 26 February. We caught up with Linda to find out more about her research and funding for the new drug, as well as the success of our 'Rare Disease Day' event.
1. Could you tell us about yourself and your role within the Department of Biological Sciences?
Having competitively secured a five year fellowship, I have been a research-focused lecturer for just over four years. Since I had the privilege of being mentored by a leading Professor in the field for the first three years of this lectureship, I have worked hard to establish myself as an independent academic, focusing my research on specific niches to delineate myself. I now independently lead a team of six PDRAs, one graduate RA, six PhD students and two Masters students. The activities in my lab focus on the pre-clinical development of gene therapies for neuromuscular diseases, in particular muscular dystrophies and I use my research extensively in my teaching. I lecture on a number of specialised third year courses on a particular muscle diseases and the therapies being developed for themis, and also on the applications of gene editing to health and disease. I also lecture to first years on ethics.
2. You have recently heard that a drug you developed has been awarded approval for use in a particular group of patients; could you tell us a bit about that?
A genetic medicine I developed while working here as a post-doctoral research scientist in Professor George Dickson’s lab was given the go ahead on 12 December 2019 by the U.S Food and Drug Association (FDA) for global use in a subset of patients with Duchenne Muscular Dystrophy (DMD), an illness that sees suffers ultimately die by their 30s. DMD is a genetic disease affecting 1:3500-1:5000 new-born males and is caused by mutations on the gene that normally encodes a protein expressed in skeletal and cardiac muscle. It’s this protein, dystrophin, that acts to protect muscle from damage during contraction, but without it, muscle fibres waste away and are replaced by scar and fatty tissue.
The original clinical trial was led by Sarepta Therapeutics, Inc. and established that VYONDYS 53™ (golodirsen) was well-tolerated and acted to restore dystrophin protein expression. Trials will now continue for further two years to assess the clinical benefit of treatment. On the basis of the benefit seen with a previously approved drug of a similar nature and mode of action, VYONDYS 53™ is expected to delay progression of the disease and thereby improve patient quality of life and survival expectation.
This is obviously really exciting for us as a lab - to have developed something that has the potential to make a difference to patients is incredibly rewarding. This is why I do the work I do.
Another type of gene therapy for DMD developed previously in Professor George Dickson’s lab here at Royal Holloway is about to start in clinical trial at UK centres, GOSH/UCL and Newcastle, and I am excited to be acting as principle investigator on this.
Supervising a team of fantastic scientists and research students, we continue to develop genetic medicines for DMD and also other muscular dystrophies, interacting with big pharma on the way.
3. Looking back at the recent 'Rare Disease Day' at Royal Holloway, can you tell us why it is important to get involved in events such a this one?
A rare disease is defined as a disease that affects less than 1 in 2,000 people, with more than 9,600 rare diseases so far identified which together affect 3.5 million people in the UK. Rare Disease Day acts to bring rare disease awareness to the general public and also with health professionals, highlighting the need for more research and funding to help people affected and their families, and perhaps most importantly increasing understanding and empathy. Rare diseases are a serious public health concern and currently account for 20% of all health care costs. People who are affected by a rare disease will mostly receive symptomatic and palliative care because there are very few curative treatments. Often, relatives will have to stop working and become full-time carers. Since I work on rare diseases associated with muscle, I welcomed the opportunity to be involved in this year’s event. Rare Disease Day at Royal Holloway is largely attended by school children (GCSE and A-level), so to be able to tell them about my research and to hopefully encourage them to be the next generation of gene therapists is a privilege.
4. What do you enjoy most about working at Royal Holloway, and specifically in the Department of Biological Sciences?
Royal Holloway has such a beautiful campus and a real sense of community, which is the biggest benefit of being a small institution. Although we’re probably in the worst building on site, the Biological Sciences department makes up for this by having fantastic people within the walls of Bourne. The department covers a broad spectrum of research, but this is its strength. I am blessed with supervising an incredible team of scientists, and they inspire me daily.
5. How do you like to spend your time outside of work?
I juggle so many balls while running on a treadmill armed with a fire extinguisher, that I find I don’t have time for so much relaxation outside of work! But I am trying to change this and have recently started learning ballroom dancing with my husband but with limited success! I like to go to the theatre and also enjoy stand-up comedy. I’m also in a reading group, but this turns into a gossip session quite quickly. I’m in the process of buying a second-hand saxophone through the college intranet, so who knows?– I may get to be that R n’ B band I wanted to join one day!