World’s top researchers collaborate to diagnose and treat rare genetic diseases

Some of the world’s top researchers in Europe, the United States and Australia aim to set a new standard in the field of rare genetic disease diagnostics and treatment. Their joint research under a five-year project has been granted EUR 12 million in EU funding.

Work has already begun on a major project titled NEUROMICS (‘Integrated European project on omics research of rare neuromuscular and neurodegenerative diseases’), which is headed by Professor Olaf Riess from the University of Tübingen’s Department of Medical Genetics and Institute of Human Genetics. The focus will be on certain groups of rare neurodegenerative and neuromuscular diseases. Approximately half a million people are affected by such diseases in Europe alone.

A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population. Although rare diseases affect few people (1 in 2,000 or less than 1 in 2,000), there are thousands of such diseases (around 7,000 currently described) and this number is increasing every year.

For 80 % of rare diseases, the origin is genetic, which means it is present in a person’s genes their entire life, even if symptoms do not immediately appear.
The Global Genes Project estimates there are 350 million people worldwide affected with a rare disease, while the European Organization for Rare Diseases (EURORDIS) estimates that as many as 5,000 to 7,000 rare diseases exist, affecting 6 % to 8 % of the population of the European Union.

The NEUROMICS consortium, comprising leading academic institutions as well as businesses, will be utilising the latest technologies to revolutionise diagnostics and to develop new treatments based on the mechanisms of each disease. The focus will be on 10 rare diseases, including ataxia, spastic paraplegia, Huntington’s disease, muscular dystrophy and spinal muscular atrophy. The results will then help hospitals to apply directly, giving patients immediate benefits.

Professor Riess says; ‘The focus of our work is the especially rare neurological diseases. So we are very glad that we were able to convince the reviewers of the value of our project. The next five years will offer an unrivalled opportunity to establish diagnostics for most of these rare neurodegenerative and neuromuscular diseases and to develop treatments for some of them.
State-of-the art sequencing technology will provide the opportunity to analyse many genes or gene sequences simultaneously. Both the finding of recognised genetic alterations and the discovery of new ones is now easier, faster and cheaper. For rare neurodegenerative and neuromuscular diseases, diagnosis is no longer like searching for a needle in a haystack. NEUROMICS makes it possible to examine every straw in the haystack individually.’

Already, progress has been made in the diagnosis and treatment of the ataxia group of diseases and spastic spinal paraplegias. Diagnostic panels have been developed for both, enabling the analysis of more than 50 genes in parallel for disease-causing genetic alterations. This has been devised by Professor Olaf Riess and his fellow colleague Professor Peter Bauer, alongside Professor Ludger Schöls from the University of Tübingen’s Center for Neurology.

Professor Olaf Riess explains what diagnosis means for some patients: ‘Establishing the disease’s genetic bases can have implications for treatment -and for all patients, it at least means they know the cause of their illness, which can have important implications for other family members.’

For more information, please visit:

University of Tübingen

The Global Genes Project



Source: Cordis News

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