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Primeur weekly 2016-08-01

Special

National Strategic Computing Initiative Executive Council to unfold Strategic Plan ...

Quantum information science is to play a key role in the U.S. National Strategic Computing Initiative ...

Focus

Lenovo is heavily investing in new HPC technology, showing its commitment to the HPC market ...

South Africa's CHPC in the picture with new Lengau supercomputer, Student Cluster Competition victory and upcoming ICRI 2016 Conference ...

Exascale supercomputing

China starts developing new-era exascale supercomputer ...

Crowd computing

IBM intensifies fight against Zika ...

Middleware

Red Hat Satellite 6.2 introduces new features to help users increase efficiency across on-premise, Cloud, and container-based environments ...

Hardware

Mellanox Technologies receives Baidu's Award for Technology Leadership, drives company to new heights in machine learning ...

Medallia deploys Mellanox Ethernet solutions to supercharge real-time analytics and achieve the efficiency of hyperscale infrastructure ...

A research project coordinated by UC3M helps reduce the cost of parallel computing ...

Supermicro shipping latest Intel Xeon Phi processor server solutions in volume with Intel Omni-Path fabric ...

Vortex laser offers hope for Moore's Law ...

Penguin Computing provides high-performance computing cluster to University of Alaska Fairbanks ...

Fifth NVM Express Plugfest participation set a record; Next event scheduled for October 2016 ...

Physicists use supercomputers to find a way of making imitation graphene from salt ...

Chip makes parallel programmes run faster with less code ...

Applications

KnuEdge and University of California San Diego to host premiere industry conference to drive next-gen machine learning performance ...

Princeton Plasma Physics Laboratory and Princeton join high-performance software project ...

Red Hat unveils JBoss Data Grid 7 as platform for real-time data analytics ...

Teradata acquires Big Data Partnership consultancy and expands open source analytics services ...

PRACE to organize Women in HPC Workshop at SC16 ...

Lawrence Livermore National Laboratory chemist named Howes Scholar ...

NSF commits $35 million to improve scientific software ...

Making Big Data DANCE(S): XSEDE project successfully tests scheduled networking of Big Data ...

New ALS gene NEK1 found by Project MinE researchers at University of Massachusetts and UMC Utrecht ...

New ALS gene C21orf2 identified by international research consortium Project MinE ...

FogHorn Systems secures $12 million in Series A funding ...

The Cloud

IBM Cloud ranked as leading Platform as a Service (PaaS) according to analyst firm ...

Oracle buys NetSuite ...

New Cloud-computing platform to further the analysis of microbial genomes ...

USFlash

Australian Government to make a $14 million investment in NCI's supercomputing and data storage capacity ...

New ALS gene C21orf2 identified by international research consortium Project MinE


Professor Ammar Al-Chalabi King's College London
25 Jul 2016 London - The international consortium of researchers connected to the patient-driven Project MinE has identified a new ALS gene, named C21orf2. In their publication inNature Genetics, they present a total of six genetic regions that were found to increase the risk of amyotrophic lateral sclerosis (ALS). Researchers and ALS associations from 15 countries collaborated in this genome-wide association study in ALS, which is the largest one to date.

ALS, also known as MND or Lou Gehrig's Disease, is a rapidly progressive fatal neurodegenerative disease affecting 1 in 400 individuals. The cause of ALS is unknown and therefore effective therapies are lacking. To find the genetic causes of ALS, two patients, Bernard Muller and Robbert Jan Stuit, initiated the large crowdfunded ALS genetics research Project MinE.

In total 15,156 patients with ALS and 26,224 healthy controls worldwide participated in this large international study led by Professor Jan Veldink and Professor Leonard van den Berg from the University Medical Center Utrecht, The Netherlands, and Prof. Ammar Al-Chalabi from King's College London, United Kingdom. This study combined "snapshot" chip-based genetic data with whole genome sequencing of 1,861 individuals using advanced statistical methods. Whole genome sequencing involves reading every single of the 6 billion letters in the genome. In total 8,697,640 variants across the genome were tested for the risk of developing ALS.

Professor Jan Veldink stated: "Most genetics studies in ALS focus on the familial form of the disease. Project MinE is an innovative approach to find genetic causes of all ALS cases. In this study we have found a total of six genomic regions where genetic variation in these regions increases the risk of ALS, three were already known. One of the novel regions included a gene named C21orf2. This gene was subsequently shown to harbour rare mutations that directly increase ALS risk. This makes the C21orf2 gene extremely interesting for future studies to shed light on the mechanisms that lead to ALS and possibly future therapeutic strategies."

Professor Ammar Al-Chalabi stated: "By working together, ALS researchers across the world, patients and the public have successfully driven the discovery of these new ALS genes. This study shows that there are more ALS genes to find, and tells us they can only be discovered using the latest technology of whole genome sequencing."

The goal of Project MinE is to whole genome sequence the DNA of 15,000 ALS patients and 7,500 control subjects, to understand the genetic basis of ALS and to ultimately find a cure for this devastating disease.

You can have a read of the scientific paper titled " Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis " inNature Genetics, published online 25th of July. This paper was published together with another new scientific paper of Project MinE researchers "NEK1 variants confer susceptibility to amyotrophic lateral sclerosis" in the same issue ofNature Genetics.
Source: Project MinE

Back to Table of contents

Primeur weekly 2016-08-01

Special

National Strategic Computing Initiative Executive Council to unfold Strategic Plan ...

Quantum information science is to play a key role in the U.S. National Strategic Computing Initiative ...

Focus

Lenovo is heavily investing in new HPC technology, showing its commitment to the HPC market ...

South Africa's CHPC in the picture with new Lengau supercomputer, Student Cluster Competition victory and upcoming ICRI 2016 Conference ...

Exascale supercomputing

China starts developing new-era exascale supercomputer ...

Crowd computing

IBM intensifies fight against Zika ...

Middleware

Red Hat Satellite 6.2 introduces new features to help users increase efficiency across on-premise, Cloud, and container-based environments ...

Hardware

Mellanox Technologies receives Baidu's Award for Technology Leadership, drives company to new heights in machine learning ...

Medallia deploys Mellanox Ethernet solutions to supercharge real-time analytics and achieve the efficiency of hyperscale infrastructure ...

A research project coordinated by UC3M helps reduce the cost of parallel computing ...

Supermicro shipping latest Intel Xeon Phi processor server solutions in volume with Intel Omni-Path fabric ...

Vortex laser offers hope for Moore's Law ...

Penguin Computing provides high-performance computing cluster to University of Alaska Fairbanks ...

Fifth NVM Express Plugfest participation set a record; Next event scheduled for October 2016 ...

Physicists use supercomputers to find a way of making imitation graphene from salt ...

Chip makes parallel programmes run faster with less code ...

Applications

KnuEdge and University of California San Diego to host premiere industry conference to drive next-gen machine learning performance ...

Princeton Plasma Physics Laboratory and Princeton join high-performance software project ...

Red Hat unveils JBoss Data Grid 7 as platform for real-time data analytics ...

Teradata acquires Big Data Partnership consultancy and expands open source analytics services ...

PRACE to organize Women in HPC Workshop at SC16 ...

Lawrence Livermore National Laboratory chemist named Howes Scholar ...

NSF commits $35 million to improve scientific software ...

Making Big Data DANCE(S): XSEDE project successfully tests scheduled networking of Big Data ...

New ALS gene NEK1 found by Project MinE researchers at University of Massachusetts and UMC Utrecht ...

New ALS gene C21orf2 identified by international research consortium Project MinE ...

FogHorn Systems secures $12 million in Series A funding ...

The Cloud

IBM Cloud ranked as leading Platform as a Service (PaaS) according to analyst firm ...

Oracle buys NetSuite ...

New Cloud-computing platform to further the analysis of microbial genomes ...

USFlash

Australian Government to make a $14 million investment in NCI's supercomputing and data storage capacity ...