The Project MinE international kick-off meeting took place on September 8th, 2014 in Amsterdam, Netherlands. The goal of the meeting was to discuss international collaborations in ALS research in general and in Project MinE in particular, and to discuss the formation of a Project MinE consortium. Prize4Life-Israel’s CEO, Shay Rishoni, and Chief Scientific Officer, Dr. Neta Zach attended the meeting, and Dr. Zach reported on the meeting.
Only 5-10% of ALS cases are familial, that is, where another family member also developed ALS. The majority of cases are sporadic, where there is no family history of ALS. Although genetic factors likely predispose individuals to ALS under certain environmental or epigenetic influences, the ALS susceptibility genes are still largely unknown.
Since the effect of these genetic variations is more subtle than disease-causing mutations, much larger cohorts of patients and controls are necessary to identify them. Jan Veldink of the University of Utrecht in the Netherlands estimated that a minimum of 15, 000 ALS DNA samples and 7, 500 control DNA genomes, each sequenced via whole genome sequencing, would be necessary to identify all the ALS-causing genetic variants with sufficient power. The complexity of identifying genetic factors that increase the risk of neurodegenerative diseases is daunting, and seemingly impossible with a rare disease like ALS.
But nothing is impossible. Project MinE set out to tackle exactly this problem and identify the genetic causes of ALS. The initiative was launched in 2013 in the Netherlands by two Dutch ALS patients and entrepreneurs, Bernard Muller and Robbert Jan Stuit, and professor Leonard van den Berg of the Netherlands ALS Centre, in cooperation with the Dutch ALS Foundation. The project set out to sequence at least 15, 000 ALS patients and 7, 500 controls, and to conduct comparative genomic analysis on the 22,500 DNA profiles. Project MinE has already made groundbreaking achievements. The Dutch Project MinE team has sequenced the genome of over 2000 ALS patients and 1000 controls – more than the number of ALS patients currently living in the Netherlands!
In order to reach the ambitious goal of 15,000 ALS patients, Project MinE has launched an international consortium for this largest whole genome sequencing project ever performed. The international kick-off meeting took place in Amsterdam on September 8th, 2014 and brought together representatives from 14 countries, including the U.S., U.K., Ireland, France, Belgium, Israel, Turkey, Spain, Italy and more. Several of the members were able to leverage funds raised from their national Ice bucket Challenge to guarantee funding for their contribution to the initiative (see ALSA’s announcement from October 2), and thousands of DNA samples are already ready for sequencing.
The representatives outlined an agreement to work together both on fundraising and on data sharing. Project Mine will develop a platform to manage not only the vast genomic data sets, but also to standardize the data from such large cohorts. The unique platform will facilitate research collaborations between members based on their specific interests, while each member will retains the final deciding vote on uses of the data they generated and contributed to the consortium.
While the European Union had already launched several impressive research collaborations including the EuroMOTOR research consortium and ALS CarE, Project MinE is by far the largest collaborative ALS project to date. – Neta Zach.