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 ...

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


Professor Jan Veldink, University Medical Center Utrecht
25 Jul 2016 Utrecht - A new ALS-gene, NEK1, has been identified by research groups in the Netherlands and the United States. As described in their publication inNature Genetics, mutations in this gene are responsible for an increased risk of ALS - amyotrophic lateral sclerosis.

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.

NEK1 was identified in whole genome sequencing data, reading each of the 6 billion letters of the genome of 4 ALS patients from an isolated community in the Netherlands. The relevance of NEK1 was confirmed in whole exome data of 1,022 index familial ALS (FALS) cases and 7,315 controls from the United States. Professor John Landers of the University of Massachusetts, United States, stated: "We used a novel rare variant gene burden approach, and found evidence for NEK1 being related to familial ALS, on top of the already known ALS genes. Interestingly, we were able to gather more evidence through our international collaboration that NEK1 is in fact related to both familial and sporadic ALS."

The relevance of NEK1 for ALS was established in an independent line of research. The researchers validated their finding in data of the international genetic research Project MinE. Genetic data of this large group of ALS patients, who were unrelated to the patients where the initial discovery was made, showed that NEK1 mutations were present in 3% of ALS patients.

Professor Jan Veldink, University Medical Centre, the Netherlands, stated: "ALS patients carried several types of mutations on the NEK1 gene. The risk of ALS might vary for these various mutations. But it is clear that this NEK1 gene is an important step forward in our search for the genetic causes of ALS. Even after this new finding, the genetic causes of up to 40% of familial ALS cases and a large majority of sporadic ALS cases are still unknown. That's why our research groups, together with many other groups worldwide, collaborate in the genetic ALS research Project MinE, which aims to whole genome sequence 15,000 patients and 7,500 healthy controls to find all genetic causes. We need to identify more risk genes and study the disease processes to find targeted treatments for this devastating, fatal neuromuscular disease."

You can have a read of the scientific paper titled " NEK1 variants confer susceptibility to amyotrophic lateral sclerosis " inNature Genetics. This paper was published online 25th of July together with a second scientific paper of the Project MinE research consortium titled "Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis".

You can also read the interview thatPrimeur Magazinehad with Professor Jan Veldink about the MinE project: " Whole genome sequencing using HPC clusters in project MinE to find a cure for ALS ".
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 ...