Story: Fighting rare diseases

Fighting rare diseases

A multi-million Euro initiative is bringing together researchers from across the world to develop new
diagnostic tools and new treatments for people with rare diseases and to connect research data in
this area on a global scale.

Rare diseases – while individually uncommon – affect one person in every 17. 80% of rare diseases
have a genetic component, and they include genetic kidney diseases like nephrotic syndrome and
conditions like Huntington’s disease, ataxia and muscular dystrophy.

Today, the EU has announced 38 million Euro funding for research towards new treatments and for
the development of a central global rare disease hub involving 70 institutions that will allow
scientists to share data from their genomics research projects. This will lead to faster diagnosis and
better treatments and improve the quality of life for patients with rare diseases.

The revolution in DNA sequencing, which means an entire human genome can now be sequenced
within days and for less than 10,000 Euro, has brought the hope of personalized treatments for
many of these diseases a step closer.

Professor Hanns Lochmüller of Newcastle University, UK, who is leading the new rare disease hub,
said: “Being able to sequence a person’s entire genetic code is an important advance, particularly for
people living with the many rare genetic disorders, but it has also shown us that sequencing is only
the first part of the story. It doesn’t replace clinical expertise – in fact, being able to combine genetic
data with clinical data is more important than ever.”

Dr Ségolène Aymé, Emeritus Director of Research at INSERM, the French Institute of Health and
Medical Research, added: “Sequencing produces a vast amount of information, but in most cases it
will find hundreds of genetic changes in each person. We now need to collate the data internationally
to discover which change – or combination of changes – actually causes the disease.”

The International Rare Diseases Research Consortium (IRDiRC), under which these new grants have
been awarded, aims to accelerate research into rare diseases. Professor Paul Lasko of McGill
University in Montréal, Canada, Chair-Elect of the IRDiRC Executive Committee, explained: “IRDiRC’s
goal is to reach 200 new rare disease therapies, and diagnoses for all rare diseases, by the year 2020.
To this end, it is today launching three major projects which will combine international genetic data
with clinical information and data on biomaterials to help interpret the vast amounts of data the
genome yields. This will aid scientists in the search for genetic causes of diseases and help identify
new ways to create targeted therapies”.

Professor Lochmüller said: “Already we have drugs being tested in clinical trials which can, in effect,
patch up the faults in the genes for some rare diseases such as Duchenne muscular dystrophy. Drugs
like this are at the vanguard of a new generation of therapies that change a person’s genes rather
than just treating their symptoms, and they have the potential to make a real difference to the
quality of life of people with the condition. By sharing data and clinical expertise in this structured
way across an international network, we hope to discover similar life-changing drugs for other rare
diseases.”

A rare disease is defined by the European Union as one that affects fewer than five people in every
10,000 of the general population. There are between 6,000 and 8,000 known rare diseases, and
approximately 30 million people across Europe are affected by a rare disease.

The four IRDiRC projects being launched in Barcelona today have received nearly 40 million EUR of
funding for cutting-edge research and collaboration over the next six years. Funding focuses on
international collaborations:

  • Identifying the genetic and epigenetic causes of rare kidney disorders – EURenOmics led by
    Heidelberg University Medical Centre, Germany
  • Addressing rare neurodegenerative and neuromuscular disorders using next generation
    whole-exome sequencing – Neuromics led by the University of Tübingen, Germany
  • Developing a global infrastructure to share the research of rare disease projects – RDConnect
    led by Newcastle University, UK
  • Supporting international rare disease collaboration through IRDiRC – SUPPORT-IRDiRC led by
    INSERM, France

The projects funded by the EU under the IRDiRC:

EURenOmics (www.eurenomics.eu) focuses on rare kidney disorders and aims to identify novel
genetic and epigenetic causes and modifiers of disease and their molecular pathways, develop
innovative technologies allowing rapid diagnostic testing, discover and validate biomarkers of
disease activity, prognosis and treatment responses, and develop in vitro and in vivo disease models
to apply high-throughput drug candidate screening.

Coordinator: Professor Franz Schaefer MD, Heidelberg University Medical Center, Germany

Neuromics (www.rd-neuromics.eu) addresses rare neurodegenerative and neuromuscular disorders
and will use next generation whole-exome sequencing (WES) to increase the number of known gene
loci, increase patient cohorts through large scale genotyping by gene panel enrichment and next
generation sequencing, develop biomarkers for clinical application with a strong emphasis on
presymptomatic utility and cohort stratification, identify disease modifiers and develop targeted
therapies using latest generation genetic approaches. Trend-setting for future EU projects, top
scientists from the US, Canada, and Australia participate in the network.

Coordinator: Professor Olaf Riess MD, Institute of Medical Genetics and Applied Genomics,
University of Tübingen, Germany. Co-coordinators Professor Brunhilde Wirth, Institute of Human
Genetics, Cologne, Germany, and Professor Gert-Jan von Ommen, Institute of Human Genetics,
Leiden, The Netherlands

RD-Connect (www.rd-connect.eu) will develop a global infrastructure for sharing the research
outputs of these and other rare disease projects, enabling scientists and clinicians worldwide to
access a single centralized repository for omics data, phenotypic and biomaterial information. Every
IRDiRC research project will be entitled to share its own data and access related data from other
projects under policies agreed at a global level.

Coordinator: Professor Hanns Lochmüller MD, Institute of Genetic Medicine, Newcastle University,
UK

Support-IRDiRC (www.irdirc.org) provides the organisational support for the implementation of the
International Rare Diseases Research Consortium in close collaboration with the European
Commission, the NIH and research funding agencies from participating countries, as well as with
relevant research projects supporting IRDiRC objectives.

Coordinator: Dr Ségolène Aymé, Emeritus Director of Research, INSERM, France

The International Rare Diseases Research Consortium (IRDiRC) aims to foster international
collaboration in rare disease research, a highly challenging area of medical research that has the
potential to benefit tremendously from the recent advances in genomics, proteomics and other
omics technologies. IRDiRC has set itself the bold aims of delivering 200 new rare disease therapies
and diagnosis for all rare diseases by the year 2020. Spearheaded by the European Union, the United
States National Institutes of Health and the Canadian Institutes of Health Research, the IRDiRC now
numbers 29 member funding institutions across the world. This global collaboration between major
research funders will ensure greater harmonization of rare disease research activities and lay the
foundations for future networking that is essential to accelerate progress in the field.

Rare diseases include:
Muscular Dystrophy
Spinal Muscular Atrophy
Cystic Fibrosis
Spinocerebellar Ataxia
Huntington’s Disease
Osteogenesis imperfecta
Ehlers-Danlos Syndrome
Epidermolysis Bullosa
Rett Syndrome
Marfan Syndrome
Hemochromatosis
Thalassaemia
Mucopolysaccharidosis
Polycystic Kidney Disease
Nephrotic syndrome
Haemophilia
Progeria
Amyotrophic Lateral Sclerosis

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