Fundraising enables expensive analyses for discovering rare genetic causes
Two new genes discovered that increase the risk of ALS
Researchers from an international consortium headed by prof. Jan Veldink and prof. Leonard van den Berg from the University Medical Center (UMC) Utrecht have discovered two new ALS genes. Both have the potential to increase the risk of ALS significantly. This means that thus far six risk areas in hereditary material (DNA) have been identified for ALS. The new findings are described in two scientific publications in the leading journal Nature Genetics.
One of the two new ALS genes was found by the UMC Utrecht in association with King’s College London (UK). Researchers analyzed the genetic material of over 15,000 ALS patients and compared it with that of 25,000 healthy subjects. The other new gene was discovered in a study by UMC Utrecht in collaboration with the University of Massachusetts Medical School, Worcester (US). This second study focused specifically on ALS patients with a family history of the disease.
Important in the search for treatment
“These newly discovered ALS genes bring the researchers another step closer to finding a treatment,” said neurologist Prof. Jan Veldink of the Brain Center Rudolf Magnus at UMC Utrecht: “These studies have shown that ALS has many different genetic causes, most of which are rare. We can only identify them by subjecting the genetic material to a complete analysis. This new method is expensive and only possible thanks to the fundraising by Stichting ALS Nederland, the Amsterdam City Swim, Tour du ALS and countless other events. Following the Dutch example, ALS foundations across the globe are now collecting the lacking funds.”
In 2013, entrepreneurs and ALS patients Bernard Muller and Robbert Jan Stuit and Stichting ALS Nederland launched the global Project MineE in conjunction with the UMC Utrecht Brain Center. ALS foundations across the globe have since joined Project MineE. An international consortium of researchers form Europe, Australia and the United States are now collaborating in this groundbreaking study led by the UMC Utrecht. Using crowd funding, researchers intend to store the DNA of 15,000 ALS patients and 7,500 healthy subjects in a database for analysis. In this way, they seek to discover the genetic basis of ALS and ultimately develop a treatment.
ALS (amyotrophic lateral sclerosis) is a deadly motor neurone disease that progressively paralyzes patients. More than 300,000 people worldwide suffer from ALS and the life expectancy after diagnosis is 3 to 5 years. Little is known about the cause of ALS and there is no effective cure for it as yet.
- Rheenen W van, Shatunov A, Dekker AM, et al. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nature Genetics 2016, doi:10.1038/ng.3622
- Kenna KP, van Doormaal PTC, Dekker AM, et al. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature Genetics 2016, doi:10.1038/ng.3626
These studies have shown that ALS has many different genetic causes, most of which are rare. We can only identify them by subjecting the genetic material to a complete analysis. This new method is expensive and only possible thanks to the fundraising by Stichting ALS Nederland, the Amsterdam City Swim, Tour du ALS and countless other events.