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Primeur weekly 2015-11-16

Focus

eScience and open access are really taking off now globally, according to Tony Hey ...

Exascale supercomputing

NEXTGenIO project tackles HPC's I/O challenges ...

EXDCI: towards a common HPC strategy in Europe ...

TERA 1000: CEA completes first milestone towards Exascale ...

National Labs collaborate to shape development of next-generation supercomputers ...

Quantum computing

Los Alamos National Laboratory orders a 1000+ Qubit D-Wave 2X quantum computer ...

Focus on Europe

DDN Storage awarded 18+ petabyte hyper-converged storage contract at CEA major French government research site ...

ARM accelerates mathematical computation on 64-bit ARM-based HPC systems ...

Kitware and NICE collaborate to push visualization to the next level ...

The Alan Turing Institute and Intel to form strategic partnership ...

Eurotech HiVe HPC system now generally available with ARM CPUs ...

Middleware

Somerville release of Einstein toolkit launched ...

New Cactus Computational Toolkit release launched ...

Bright Computing announces integration with Dell PowerEdge servers for HPC environments ...

High performance computing leaders unite to develop open source framework ...

Altair to open source PBS Professional HPC technology in 2016 ...

Hardware

Altera FPGAs accelerate servers at Texas Advanced Computing Center ...

DDN introduces the world's fastest hybrid SSD and disk, high density embedded storage platform ...

DDN storage selected by Texas Advanced Computing Center (TACC) to deliver a 40x speed up in scientific research and innovation ...

DDN Annual High Performance Computing Trends survey reveals that data storage has become the most strategic part of the HPC data centre ...

Supercomputer project to study solid-state drives under data-intensive workloads ...

Cray to join OpenHPC Community ...

PEZY and Imagination team up to develop next-generation HPC systems ...

Applications

Intersect360 Research issues Processors Report as part of the HPC User Site Census series ...

Oak Ridge National Laboratory and industry partners use high-performance computing to drive alloy design ...

Berkeley Lab-UC Berkeley team's programme can reconstruct entire genomes in just minutes ...

HPC Advisory Council announces Stanford High-Performance Computing Conference 2016 ...

Boston Children's Hospital to tap IBM Watson to tackle rare paediatric diseases ...

TOP500

China's Tianhe-2 supercomputer maintains top spot on list of world's TOP500 supercomputers ...

The Cloud

NUMECA steps farther into the era of software as a service with UberCloud containers ...

Markets and Markets issues report on Cloud HPC market ...

Boston Children's Hospital to tap IBM Watson to tackle rare paediatric diseases


10 Nov 2015 Boston - IBM and Boston Children's Hospital intend to collaborate to apply IBM's Watson cognitive platform to help clinicians identify possible options for the diagnosis and treatment of rare paediatric diseases. The news was unveiled at the Global Pediatric Innovation Summit + Awards.

In an initial project focused on kidney disease, Watson will analyze the massive volumes of scientific literature and clinical databases on the Watson Health Cloud to match genetic mutations to diseases and help uncover insights that could help clinicians identify treatment options.

Today about 1 in 10 Americans suffer from a rare disease, and half of these patients are children, according to the Global Genes Project. There are some 7,000 known rare disorders ranging from benign abnormalities to life-threatening disease. Many affected children pass away before a diagnosis can be made, leaving families to grieve without knowing what might have been done to help them, or how to avoid additional brothers or sisters being affected.

At Boston Children's, investigators at the Manton Center for Orphan Disease Research are focused on diagnosing children with a wide variety of rare genetic conditions. While strides have been made, the interpretation of sequencing results can be a labor-intensive process, presenting an overload of information whose analysis may not always yield a definitive causative variant.

In the new collaboration, Watson will be trained in nephrology by reading related medical literature and aggregating information on causative mutations for steroid-resistant nephrotic syndrome (SRNS), a rare genetic form of kidney disease. Then, experts at Boston Children's Hospital intend to feed genomic sequencing data from retrospective patients into Watson to further train the system. The goal is to create a cognitive system that can help clinicians interpret a child's genome sequencing data, compare this with medical literature and quickly identify anomalies that may be responsible for the unexplained symptoms.

"Coping with an undiagnosed illness is a tremendous challenge for many of the children and families we see", stated Christopher Walsh, MD, PhD, director of the Division of Genetics and Genomics at Boston Children's Hospital. "Watson can help us ensure we’ve left no stone unturned in our search to diagnose and cure these rare diseases so we can uncover all relevant insights from the patient’s clinical history, DNA data, supporting evidence and population health data."

Even with a diagnosis, effective treatment for rare conditions can be elusive. For example, SRNS are usually unresponsive to immuno-suppressive therapy, and often must go on chronic dialysis or wait for a kidney transplant - only to have their disease frequently recur in the new organ.

"One of Watson's talents is quickly finding hidden insights and connecting patterns in massive volumes of data", stated Deborah DiSanzo, general manager, IBM Watson Health. "Rare disease diagnosis is a fitting application for cognitive technology that can assimilate different types and sources of data to help doctors solve medical mysteries. For the kids and their families suffering without a diagnosis, our goal is to team with the world's leading experts to create a cognitive tool that will make it easier for doctors to find the needle in the haystack, uncovering all relevant medical advances to support effective care for the child."

The kidney project will be done in collaboration with Friedhelm Hildebrandt, MD, chief of the Division of Nephrology at Boston Children’s and Claritas Genomics. Following its successful completion, Boston Children's plans to expand the effort into undiagnosed neurologic disorders and other disease areas studied by the Manton Center, improving diagnostic and treatment services for patients nationwide.

Boston Children's Hospital is part of the Undiagnosed Diseases Network, a NIH programme that aims to solve medical mysteries by integrating genetics, genomics, and rare disease expertise. Boston Children's was also the incubator behind Claritas Genomics, a genetic diagnostic laboratory that offers genetic testing and develops new diagnostic tests and solutions, and organizer of the CLARITY Undiagnosed Challenge, a crowd sourcing competition seeking best practices in clinical genomics. The results and winner of the Challenge have been announced at the Boston Children's Hospital Global Pediatric Innovation Summit on November 10, 2015.

IBM has been developing Watson’s ability to analyze genomic data in collaboration with leading cancer centres around the world. The system is currently being used at 16 cancer institutes to analyze and translate genomic data to help oncologists uncover personalized treatment options. The new project with Boston Children's represents the first time this technology will be applied to help clinicians efficiently identify possible options for rare disease diagnosis and treatment.

IBM and Boston Children's are also working together to build OPENPediatrics, an online platform designed to bring life-saving medical knowledge to pediatric caregivers worldwide. In September, the two organisations announced they will integrate Watson's deep and iterative question and answer capability to enhance and scale the OPENPediatrics initiative.
Source: IBM

Back to Table of contents

Primeur weekly 2015-11-16

Focus

eScience and open access are really taking off now globally, according to Tony Hey ...

Exascale supercomputing

NEXTGenIO project tackles HPC's I/O challenges ...

EXDCI: towards a common HPC strategy in Europe ...

TERA 1000: CEA completes first milestone towards Exascale ...

National Labs collaborate to shape development of next-generation supercomputers ...

Quantum computing

Los Alamos National Laboratory orders a 1000+ Qubit D-Wave 2X quantum computer ...

Focus on Europe

DDN Storage awarded 18+ petabyte hyper-converged storage contract at CEA major French government research site ...

ARM accelerates mathematical computation on 64-bit ARM-based HPC systems ...

Kitware and NICE collaborate to push visualization to the next level ...

The Alan Turing Institute and Intel to form strategic partnership ...

Eurotech HiVe HPC system now generally available with ARM CPUs ...

Middleware

Somerville release of Einstein toolkit launched ...

New Cactus Computational Toolkit release launched ...

Bright Computing announces integration with Dell PowerEdge servers for HPC environments ...

High performance computing leaders unite to develop open source framework ...

Altair to open source PBS Professional HPC technology in 2016 ...

Hardware

Altera FPGAs accelerate servers at Texas Advanced Computing Center ...

DDN introduces the world's fastest hybrid SSD and disk, high density embedded storage platform ...

DDN storage selected by Texas Advanced Computing Center (TACC) to deliver a 40x speed up in scientific research and innovation ...

DDN Annual High Performance Computing Trends survey reveals that data storage has become the most strategic part of the HPC data centre ...

Supercomputer project to study solid-state drives under data-intensive workloads ...

Cray to join OpenHPC Community ...

PEZY and Imagination team up to develop next-generation HPC systems ...

Applications

Intersect360 Research issues Processors Report as part of the HPC User Site Census series ...

Oak Ridge National Laboratory and industry partners use high-performance computing to drive alloy design ...

Berkeley Lab-UC Berkeley team's programme can reconstruct entire genomes in just minutes ...

HPC Advisory Council announces Stanford High-Performance Computing Conference 2016 ...

Boston Children's Hospital to tap IBM Watson to tackle rare paediatric diseases ...

TOP500

China's Tianhe-2 supercomputer maintains top spot on list of world's TOP500 supercomputers ...

The Cloud

NUMECA steps farther into the era of software as a service with UberCloud containers ...

Markets and Markets issues report on Cloud HPC market ...