BBS Research

Research is an integral part of the history and future of Bardet-Biedl Syndrome UK and enables us to improve the lives of those with the syndrome through better management and treatments and in understanding the underlying causes of the syndrome.

As a charity, we have been primarily patient support focused and are only just starting to consider our role with regards to research and collaboration with the scientific and medical professionals across the globe. Our aim is to engage with rare disease research, to share experience and knowledge of our genetic condition with others and network with similar organisations. Most importantly, we wish to share and publish updates regarding research to our members and patients.

BBS UK has developed its research policies to support us in future collaborations and have a comprehensive Research Policy and Guidelines, Scientific Advisory Board Policy and Research Statement and Pharma Policy which can viewed or downloaded at the link below.

Click here to download the BBS UK Research Statement & Pharma Policy

Research & Study of BBS

Gene Therapy

The New World of Gene Therapy 

Condensed and reprinted with kind permission from RARE Revolution Magazine 

Why is everybody talking about gene therapy? 

Gene therapy is one of the fastest growing areas of healthcare. Rather than just treating symptoms, gene therapy has the potential to get right to the core of a disease by modifying a person’s genes. This can be achieved by replacing a disease-causing gene with a healthy copy of the gene or inactivating or removing a disease-causing gene. 

Gene therapy research began over 40 years ago and while progress has been slow to reach patients, several products are now authorised for use in a range of conditions with that number expected to increase over the next few years. 

Gene therapy offers tremendous hope, particularly in the rare disease setting where treatments are often unavailable or only provide short-lived quality of life (QoL) benefits. With gene therapy, there is potential for cure, or restoration of function, that can lead to significant improvements in quality of life. Consequently, patient communities are keen to understand what these therapies could mean for people living with these genetic conditions. But reality and expectations are not always aligned, and health systems will need to work through complex social, ethical, health and economic concerns.  

Gene therapy may not offer a cure or be suitable, or indeed available, to everyone. Gene therapies frequently make news headlines because of their extremely high price tag, and even when they are approved by regulatory authorities, unfortunately, there is no guarantee of access for the individuals that most need them. Also, patients and caregivers may not fully understand gene therapy and its benefits may be overestimated. 

What kind of an impact could gene therapy have on people living with a rare disease? 

In many cases, it is hoped that gene therapy will result in a “cure,” abolishing symptoms so that “management” of a condition is no longer required. For some conditions this may be the case, but in other conditions, patients may overestimate the benefits and expect a “cure,” but in reality, their condition is improved but not eliminated. Safety considerations are also of paramount importance and will be a factor for many people. Managing the difference between expectations and reality for all those concerned is essential.  

How could gene therapy impact the wider healthcare systems? 

Gene therapy has the potential to significantly improve the lives of people affected by a genetic condition; however, the cost of the treatment represents a significant hurdle. For example, a gene therapy recently approved in the US has a price tag of $3.5 million. For institutions such as the UK’s National Institute for Health and Care Excellence (NICE), funds are limited and so understanding the impact of gene therapy and its cost effectiveness is critical.  

Even in countries that can offer gene therapy, not all individuals will be eligible for treatment, not just within a clinical trial but also in the real world after approval. For example, age may be a limiting factor, or in the case of gene therapy using viral vectors, previous exposure to the wild-type virus. These restrictions could create a two-tiered system, for those that have had gene therapy versus those that have not.  

Despite these challenges, the huge potential for gene therapy remains, with the possibility for some previously undertreated diseases to become a thing of the past, with a real reduction in demands on healthcare services for some conditions. 

Key Challenges 

Gene therapy has come on in leaps and bounds, but challenges remain.  The process of developing a gene therapy can be very lengthy and patients and their families sometimes have unrealistic expectations. Even if approval is granted, cost can be a huge barrier to access.  

Education is key. This is complex science and can be difficult for patients, Health Care Professionals, and regulators/funding decision-makers to understand. We need to have meaningful discussions about safety and durability. We need to determine what happens if the treatment fails. What are the ethical considerations and motivation for treatment? Does everybody want to be treated in this way?  The diseases that potentially could be treated with gene therapy are typically poorly served by current therapies and the burden of disease affecting patients and their families is immense.  

Patient communities must be involved in the decision-making process. Open discussions, debate and education are needed, and the support of patients and patient advocacy groups can help to drive these discussions forward, championing the cause of those without a voice. The future is incredibly exciting and the potential for gene therapy is huge for patients and caregivers, but to deliver a global solution and true health equity, pharmaceutical companies, payers, policymakers, and advocacy groups need to work together. 

This article originally appeared in the 8th of March 2023 edition of RARE Revolution Magazine, written by: Amanda Henkel, practice area lead, rare diseases; Jo Fearnhead-Wymbs, SVP patient engagement; Alex Morton, SVP patient engagement, MEDiSTRAVA, an Inizio company 

You can read the full article by visiting their website at www.rarerevolutionmagazine.com

The Secret to a Bigger Better Brain

The ‘3 Minute Thesis’ competition (3MT) celebrates research conducted by PhD students around the world. The premise of the competition is simple: PhD students are set the challenge of explaining their research project to a non-specialist audience in just three minutes.

This entry by Dr Elizabeth Forsythe won the competition for University College London in 2018 and has been entered for the national semi-finals. It explains what happened when a group of children with the ciliopathy Bardet-Biedl Syndrome took part in a research study aiming to improve their memory and brain capacity. The exciting results show that our genes are not our only destiny, and that exercise really could be the secret to a bigger, better brain.