In 2011, the U.S. National Institutes of Health and the European Commission joined forces to form the International Rare Disease Research Consortium (IRDiRC) with a goal to develop 200 new rare disease treatments by 2020. To support this effort, the EU announced last week it is dedicating nearly 38 million Euro, or more than $51 million, in funding towards “the development of a central global rare disease hub involving 70 institutions that will allow scientists to share data from their genomics research projects.” Rare diseases, such as mesothelioma, globally affect nearly one person in 17.
According to a press release by Newcastle University which is coordinating the new rare disease hub, the collaborative efforts will lead to “faster diagnosis” and better treatments that will improve the quality of life for rare disease sufferers.
In the United States, an orphan disease status is assigned to a disease or disorder if it affects fewer than 200,000 Americans at any given time. Mesothelioma, a cancer caused by asbestos exposure, is diagnosed in 3,000 Americans each year. There are nearly 7,000 rare diseases that affect one in ten Americans. Close to 30 million people across Europe are affected by a rare disease.
Many physicians and scientists believe that the answer to finding an effective treatment for mesothelioma and other rare diseases lies within each patient’s genetic makeup. Recent advances in genome sequencing have brought the cost down and have accelerated genetic discovery leading to targeted drug development and personalized care.
“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,” said Professor Hanns Lochmüller of Newcastle University and leader of the project. “It doesn’t replace clinical expertise – in fact, being able to combine genetic data with clinical data is more important than ever.”
The IRDiRC is launching several major projects combining international genetic data with clinical information and data on biomaterials “to help interpret the vast amounts of data the genome yields,” said Professor Paul Lasko of McGill University in Montréal, Canada, Chair-Elect of the IRDiRC Executive Committee. “This will aid scientists in the search for genetic causes of diseases and help identify new ways to create targeted therapies.”
According to Newcastle University, the projects include developing a global infrastructure to share the research of rare disease projects and supporting international rare disease collaboration through IRDiRC.
The IRDiRC Conference 2013 will be held in Dublin, Ireland on April 16-17, 2013. Sessions will focus on fostering international collaboration in rare diseases research. In addition, attendees will discuss which tools are needed and which are under development that can be used towards reaching IRDiRC objectives.