Rare diseases: unscrambling the code

People affected by rare diseases often face extraordinary barriers. They can find it difficult to get the right diagnosis, expert advice or treatment and support.

It’s challenging – especially when they are trying to cope with the uncertainty of an often progressive, devastating and debilitating disease. But the complexity of these conditions, and the small number of patients affected, means this area of research doesn’t always attract the greatest interest.

Less than 5%

of the 6-8,000 rare diseases that exist have licensed treatments

Less than 5% of the 6-8,000 rare diseases that exist have licensed treatments, so the potential to help patients is significant. That’s why, at GSK, research into rare diseases is one of our six core areas of scientific R&D. We have established a dedicated rare disease unit, with the ultimate goal of developing breakthrough solutions for people affected by rare diseases and delivering much needed medicines.

A rare disease is often caused by a fault in a single gene. Understanding where these faults occur and how they can be fixed gives us a unique insight into specific areas of human biology. We hope these insights will not only make a difference to patients with rare diseases but also help us better understand the science behind more common conditions. Our work in rare diseases also enables us to use new and cutting edge technology to achieve our goal.

Working in rare diseases is challenging. To be successful requires specialised skills, determination and a unique approach. We recognise that patients are often experts in their own disease so we actively seek their advice to further our research.

Here three employees from our rare disease unit share their stories of what they are doing to help develop and deliver medicines for those affected by a rare disease.

A parent’s view:

Julie Venners Christensen, Head of Global Patient Advocacy, Gene Therapy

I am a mother of five children. When my daughter Brielle was born, I knew something wasn’t right. She wasn’t developing as fast as her siblings and was struggling to meet developmental milestones. There was limited knowledge of her disease at the time. It took four months before she was diagnosed with mitochondrial disease – which causes poor growth and numerous organ disorders. Brielle’s prognosis was devastating. She was given a year to live. There was no treatment for her condition so I worked with Brielle's metabolic specialist to try various, and sometimes unusual, approaches. Brielle is now 21 years old. It was through my campaigning activities that I learnt about the rare disease patient advocacy role at GSK. Through my own experience I appreciate the challenges faced by those affected by rare diseases. I bring these insights into GSK to help make a medical difference to patients and their families.

A clinician’s view:

Alison Church, Medicine Development Lead, metachromatic dystrophy 

The first time I encountered a patient with a rare disease was as a paediatric immunologist at Duke University. I saw many patients with rare genetic diseases that caused their immune systems not to work properly. For some, a minor cold could have fatal consequences. Patients can spend years in isolation due to the fear of an infection. It was devastating to see some patients die despite receiving the best available treatments. It left an indelible memory. My role at GSK involves progressing the development of potential new medicines through to regulatory approval. It is challenging – particularly when there’s no precedent. Every day, and particularly when times are tough, I recall my patients at Duke. I want to do my utmost to help give children with rare diseases the opportunity to live a long and healthy life.

A parent’s view:

Jessica Imrie, Head of Strategy & Operations, Gene Therapy

Soon after having my twins, I was told that Abigail had a rare genetic fault. Her immune system wasn’t able to fight infections so, unless we could find a suitable bone marrow donor, Abigail would die. She was kept in isolation. My husband and I, and Abigail’s twin brother Jack were tested. Despite the odds Jack was a perfect match and donated his bone marrow to his twin sister. But Abigail’s condition did not improve and we prepared for the worst. Then a breakthrough – her immune system slowly started to respond. At 2 years of age she was able to attend pre-school for the first time. We’ve been very lucky. Without Jack, Abigail would have died. Some children with similar rare conditions don’t have a suitable donor so live in isolation units or don’t survive. Abigail and Jack are inseparable. Abigail tells everyone that Jack saved her life. Raising a daughter with a rare disease has brought a new perspective to my work in the Rare Disease Unit at GSK. I share my own experience with colleagues to help ensure we focus on what’s important to parents and patients.

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