Real-world data

Dr Raffaele Ferrari, an Alzheimer’s Society junior fellow in the Department of Molecular Neuroscience at University College London, describes how international collaboration makes his work possible.

I am researching frontotemporal dementia, a less common type of dementia that affects people’s behaviour, personality and language skills.

Our understanding of precisely what causes the development of frontotemporal dementia is limited. A better knowledge of genetics could help us understand the processes that take place within and between brain cells, and which lead to brain shrinkage and symptoms.

Therefore, although genetics is the main focus of my research, I collaborate closely with other specialists to discover the impact of these genes in brain cells. This understanding is critical to find potential targets for new drugs.

I have always been intrigued by the thought that a unique combination of chemical reactions forms the basis of all life. I studied molecular biology at the University of Genova in Italy and moved to the US after graduation. There I realised that my interest in biology could become more than a mere exercise of the mind. I saw clinicians and researchers working together to understand how the smallest imbalance of the body’s biological equilibrium could trigger disease.

I began to see that I could direct my work, knowledge and creativity towards understanding the changes in brain cells that underpin disease and finding ways to intervene. By studying dementia I hope to shed light on some parts of the bigger picture, helping our research community to eventually prevent or cure dementia.

During my PhD I had the opportunity to lead the first international genome-wide association study in frontotemporal dementia. This type of study takes the genetic information of thousands of people with and without the disease, comparing it to find genetic markers that are more common in people who have frontotemporal dementia. The study identified new genes that increase people’s risk of frontotemporal dementia. It also led to the creation of the International Frontotemporal dementia-Genomics Consortium (IFGC), which I currently co-ordinate.

The IFGC includes up to 40 research groups from more than 20 countries in Europe, North America and Australia. Clinicians from these groups send me DNA samples from people who have frontotemporal dementia for analysis here in London. Since 2008, I have analysed around 3,500 samples. Through my project recently funded by Alzheimer’s Society, I will be able to analyse around 2,400 more.

Big numbers are critical for my research and the reason is simple – the more samples I can study, the more accurately I can find alterations in DNA that are linked to frontotemporal dementia. To interpret the genetic data, I work with colleagues to combine information from large databases about the biological effects of the genes.

I am convinced that this multidisciplinary approach - combining knowledge of which genes are involved and how they affect brain cells - will help our scientific community to speed up the development of ways to prevent and treat dementia.