Prof. Christophe Béroud leads the centre for molecular diagnosis of Congenital Muscular Dystrophies (MDC1A) and a bioinformatics team at the Aix-Marseille University Medical School. Within RD-Connect, he leads the work on clinical bioinformatics.
What is RD-Connect? Could you please explain briefly the purpose and goal of the project.
RD-connect is a European project that aims to reinforce collaborations in the rare disease field, not only in Europe but also at a worldwide level. It is funded by the EU in the context of the IRDiRC international project, which aims to discover most genes responsible for rare genetic diseases and 200 new therapies for rare diseases by 2020. RD-Connect is the bioinformatics arm of this worldwide initiative that will provide a unique platform and sophisticated tools to share data and extract knowledge from these data.
Why is RD-Connect needed for rare diseases?
RD-Connect is needed because such diseases are often very rare and only few individuals are studied in each centre. To reach a sufficient number of individuals to set-up efficient analysis, sharing is a pre-requisite, this will be facilitated by the RD-connect platform.
What is your role in RD-Connect? Could you please tell us a little about your professional background and the type of research you are working on?
I am the leader of the Clinical Bioinformatics work package. With my team, we create new software to extract knowledge from data especially in the context of NGS to detect the pathogenic mutations (1/2 per individual) among the data deluge (4 millions of mutations per individual). I am full professor of human genetics at the Aix Marseille University in France. I am Doctor in Pharmacy, have a PhD in human genetics and is responsible of the “Genetics & Bioinformatics” research team at INSERM UMR_S910.
How did you become interested in rare diseases in the first place and why bioinformatics?
As a pharmacist, I have always been in contact with drugs to cure patients. I was among the first pharmacists to move to the genetics field because I believed it was a key field for many diseases and, as a basic science, could lead to many different spaces (immunology, cancers, rare diseases …). I started in oncogenetics (von Hippel Lindau diseases and kidney cancers) and naturally moved to the rare disease field as most Mendelian genetic diseases are rare.
I am a self-made bioinformatician as I discovered the first computers with friends during my first years at university. I found that my skills as a chess player were a strength to create algorithms. I therefore started to create software to facilitate my day-to-day job as a hospital pharmacist. I discovered that genetics were generating more and more data and that databases and tools were required to efficiently store those data and extract knowledge from them. I created the UMD system that rapidly became an international reference. Since then I created many other databases and tools and became leader of a reference bioinformatics team.
Why should we, patient representatives be excited by bioinformatics?
Patients and patient representatives should be interested in bioinformatics because it allows to move in a new dimension. Imagine that with the best expert, you can read and analyse genomic sequences at a rate of few thousands per day. With bioinformatics, you can do billions per day! In addition, you can easily enrich each information with data from multiple sources in a wink. If you imagine drug development, you can use the power of bioinformatics to create models, feasibility studies and patients recruitment. Without bioinformatics, it will be almost impossible to move to the personalized medicine world.
How do you see involvement of patient groups, how can we optimize patient involvement in your opinion?
Even if you create the best software or database, it could rapidly turn useless if you do not have access to data. Patients own their data, which are key to build databases etc. Clinicians and geneticists also have access to complementary data about patients. This information can only be used if patients give their consent. Patients organizations are key actors to explain to the public what are the purposes of the research projects and why they should give their consent to feed the bioinformatics databases with key data.