Gene therapies are changing the trajectory of rare diseases

The paradox of rare diseases is that when taken together, they aren’t all that rare. The latest studies count more than 10,000 different rare diseases, affecting approximately 400 million people worldwide. Rare diseases take many forms - but one thing many of them have in common is a genetic component. We now know that 80% of rare diseases are caused by faulty genes.

Like recipes that instruct us how to bake a cake or make complex culinary dishes, our genes contain ‘recipes’ which guide and instruct cells to make proteins. Occasionally, errors occur in the code, known as genetic mutations. Genes may be deleted, substituted, or inserted into the wrong place. If this happens, the sequence of instructions that your body needs to function normally is impaired or disrupted.?

This means that when we understand the biological problem underlying a disease and which genes are at fault, we can design a much deeper intervention to overcome the mutation or to provide an extra normal copy of the gene.??

Rare neuromuscular diseases with genetic components that we’re investigating at Roche include Duchenne muscular dystrophy and spinal muscular atrophy (SMA). Duchenne, for example, is a particularly severe disease. It strikes in early childhood and, despite advances in care, most of those affected lose their ability to walk in their early teens and often do not live past their early 30s.

Genetic medicine holds immense promise to fundamentally change outcomes like these. New technologies, like gene transfer therapy, antisense oligonucleotides and gene splicing modifications, are enabling us to deliver therapeutic genetic material to target tissues safely and effectively. With the new instructions delivered, the underlying genetic problem can start to be corrected by the body.?

Beyond the science, what drives us in neuroscience is ensuring we can preserve people’s unique qualities – the things that make them who they are – to help them continue doing what they love. This weekend I was inspired to see this put into perspective in a BBC article about Eli, a 16-year-old living with Duchenne, whose dream came true when he got to play at the Glastonbury Festival with his band. We’ve heard many such stories as part of our ‘What Makes You, You? ’ initiative, which really brings it home for my colleagues and me – this is why we must continue to advance the science, to envision a future where people living with a neuromuscular condition can achieve their dreams.

As a practicing neurologist for over 10 years I have witnessed the physical and emotional toll of neuromuscular diseases like Duchenne and SMA on patients and their families. It is now my privilege to lead a truly brilliant, global team of researchers here at Roche where we come to work every day to advance research that we hope will one day transform the lives of those living with rare diseases by tackling the underlying cause and changing their trajectory.?