Sony Pixel Power calrec Sony

Boston Children s Hospital to Tap IBM Watson to Tackle Rare Pediatric Diseases

10/11/2015

BOSTON - 10 Nov 2015: IBM (NYSE: IBM) and Boston Children's Hospital today announced that they intend to collaborate to apply IBM's Watson cognitive platform to help clinicians identify possible options for the diagnosis and treatment of rare pediatric diseases. The news was unveiled at the Global Pediatric Innovation Summit + Awards (#PedInno15).

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, said 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 immunosuppressive 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, said 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 program 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 will be announced at the Boston Children's Hospital Global Pediatric Innovation Summit on November 10.

IBM has been developing Watson's ability to analyze genomic data in collaboration with leading cancer centers 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 organizations announced they will integrate Watson's deep and iterative question and answer capability to enhance and scale the OPENPediatrics initiative.

Learn more about this story at www.ibm.com/blogs/think/2015/11/09/cognitive-technologies-are-critical-to-improving-healthcare/

About Boston Children's Hospital

Boston Children's Hospital is home to the world's largest research enterprise based at a pediatric medical center, where its discoveries have benefited both children and adults since 1869. More than 1,100 scientists, including seven members of the National Academy of Sciences, 1
LINK: http://www-03.ibm.com/press/uk/en/pressrelease/48064.wss...
See more stories from ibm

Most recent headlines

13/03/2025

TAG Video Systems and Harmonic Partner to Deliver Enhanced Real-Time Monitoring for VOS360 Streaming Workflows at the 2025 NAB Show

TAG Video Systems and Harmonic Partner to Deliver Enhanced Real-Time Monitoring ...

13/03/2025

DigitalGlue Invites NAB Visitors to Experience New Features in Managed Storage Platform that Empowers Video Teams to Scale Effortlessly

DigitalGlue Invites NAB Visitors to Experience New Features in Managed Storage P...

13/03/2025

FOR-A America Theme - Connecting the Present, Building the Future - Comes to Life at NAB 2025 Exhibition

FOR-A America Theme - Connecting the Present, Building the Future - Comes to Lif...

13/03/2025

Ajit Pai Appointed President of CTIA

CTIA, the wireless industry association, has named former FCC Chairman Aji Pai as its President and Chief Executive Officer, effective April 1. He replaces Mere...

13/03/2025

NAB: FCC's 60 Minutes Investigation Is Unconstitutional, Invalid

he National Association of Broadcasters is urging the FCC to end its investigation of that controversial CBS interview with Kamala Harris stating there is no ...

13/03/2025

CBS Miami to Launch AR Coverage of Weather and Sports for March Madness

MIAMI CBS News & Stations continues to expand its use of augmented and virtual reality technologies with the planned launch of an augmented reality/virtual real...

13/03/2025

Meet the co-founder and chief customer success & innovation officer

Srividhya Srinivasan, co-founder and chief customer success & innovation Officer at Amagi, tells TVBEurope how staying ahead of the latest trends is essential f...

13/03/2025

FCC Chairman Carr Launches Massive Deregulation Initiative

WASHINGTON FCC Chairman Brendan Carr announced that the agency has launched a massive, new deregulatory initiative that could potentially subject virtually all ...

13/03/2025

SDVI Integrates Rally With Spectra Vail

SUNNYVALE, Calif. SDVI has announced that it has integrated its Rally media supply chain management platform with the Spectra Vail multi-cloud data management s...

13/03/2025

FCC Approves Gray's Acquisition of KXLT

ATLANTA Gray Media has announced that the Federal Communications Commission (FCC) has granted a waiver of its local ownership rules to permit Gray Media to acqu...

13/03/2025

NAB Show 2025 Exhibitor Insight: Blackmagic Design

TV Tech: What do you anticipate will be the most significant technology trends at the 2025 NAB Show?...

13/03/2025

Watch Student Naomi Soleils Folk Pop Performance on The Voice

Watch Student Naomi Soleils Folk Pop Performance on The Voice The songwriting major sang Stars by Grace Potter and the Nocturnals during the blind auditions. ...

13/03/2025

Italia 90 Republic of Ireland Squad, Riverdance, Cian Ducrot & B*Witched on Friday's Late Late Show

Here is your host, Patrick Kielty! Shake your Shamrocks, Patrick Kielty will be...

13/03/2025

RT Celebrating all things Irish this St. Patrick's Weekend

This St. Patrick's weekend, RT invites you to celebrate all things Irish, showcasing the very best of Irish sport, entertainment and live coverage from the...

13/03/2025

GTC 2025 - Announcements and Live Updates

What's next in AI is at GTC 2025. Not only the technology, but the people and ideas that are pushing AI forward - creating new opportunities, novel solution...

13/03/2025

T-Mobile, Thales and SIMPL ease IoT deployments with a flexible and secure connectivity solution

Facebook Twitter LinkedIn By combining T-Mobile's robust network, Thal...

13/03/2025

Relive the Magic as GeForce NOW Brings More Blizzard Gaming to the Cloud

Bundle up - GeForce NOW is bringing a flurry of Blizzard titles to its ever-expanding library. Prepare to weather epic gameplay in the cloud, tackling the genr...

13/03/2025

Gaming Goodness: NVIDIA Reveals Latest Neural Rendering and AI Advancements Supercharging Game Development at GDC 2025

AI is leveling up the world's most beloved games, as the latest advancements...

13/03/2025

Drop It Like It's Mod: Breathing New Life Into Classic Games With AI in NVIDIA RTX Remix

PC game modding is massive, with over 5 billion mods downloaded annually. Mods p...

12/03/2025

Como o Impacto Cultural e Financeiro da Indstria Musical Define Seu Sucesso em 2025

O Spotify acaba de lan ar o relat rio Loud & Clear deste ano, uma vis o transpar...

12/03/2025

Cmo el impacto cultural y financiero de la industria musical define su xito en 2025

Spotify acaba de presentar el informe Loud & Clear de este a o, una mirada trans...

12/03/2025

Nourish Mind, Body, and Soul This Ramadan With Spotify

Ramadan, a period of profound spiritual significance for Muslims worldwide, is a time for fasting, prayer, reflection, and community. Enrich your experience thi...

12/03/2025

How the Music Industry's Cultural and Financial Impact Define Its Success in 2025

Spotify has just unveiled this year's Loud & Clear report, a transparent loo...

12/03/2025

FAST now transcends back catalog content

More than 70% of FAST programming has been produced since 2010, according to new Gracenote report NEW YORK March 12, 2025 Gracenote, the content data busin...

12/03/2025

Viamedia Adopts ShowSeeker Pilot To Streamline Ad Workflows

GEONA, Nev. Independent digital and linear advertising rep firm Viamedia will adopt cloud-based ShowSeeker Pilot as its primary ad campaign and order management...

12/03/2025

Mediagenix Appoints Wael Yasin as Sales Director Central Europe

BRUSSELS Mediagenix has announced that Wael Yasin has joined the company as sales director Central Europe....

12/03/2025

Omdia: Global Online Consumer Expenditure to Hit $6.6 Trillion by 2029

LONDON A new study highlights opportunities for shoppable TV and the massive impact online consumer spending is having on the economy, with Omdia predicting tha...

12/03/2025

Comcast Technology Solutions Upgrades to Interra Systems BATON Version 9

CUPERTINO, Calif. Interra Systems has announced that Comcast Technology Solutions has integrated recent updates to BATON Version 9 into its operations....

12/03/2025

Nevion announces new 400G addition to its eMerge SDN media fabric offering

Nevion announces new 400G addition to its eMerge SDN media fabric offering Brie Clayton March 12, 2025 0 Comments High-capacity switch enhances existi...

12/03/2025

DaVinci Resolve Studio Delivers Cinematic Sound for Adam Bol

DaVinci Resolve Studio Delivers Cinematic Sound for Adam Bol Brie Clayton March 12, 2025 0 Comments Feature film relies on DaVinci Resolve Studio for ...

12/03/2025

SVT Leverages Ateliere Live to Pioneer 100% Software-Defined Production at Rally Sweden 2025

SVT Leverages Ateliere Live to Pioneer 100% Software-Defined Production at Rally...

12/03/2025

Berklee Awards Fenway Neighborhood Improvement Grant to Four Organizations

Berklee Awards Fenway Neighborhood Improvement Grant to Four Organizations A total of $17,000 will be distributed among the Boston-based nonprofits. By Madd...

12/03/2025

Offering a broad umbrella for IP standards

TVBEuropes Jenny Priestley sits down with new SMPTE president Richard Welsh to discuss his aims for the organisation going forward, its efforts to attract a you...

12/03/2025

Warner Bros Belgium takes a new approach to its post production workflows

The new process has significantly enhanced operational efficiencies, with automation freeing up creators to concentrate on higher value tasks By Matthew Corrig...

12/03/2025

Another VFX company suspends operations

Jellyfish Pictures, which has offices in London and Sheffield, said it has been battling hard in the face of strong headwinds over the last 12 months By Jenny ...

12/03/2025

Bitcentral to Showcase AI-Powered Innovations for Smarter...

Visit Booth #W2213 to Experience the Latest in AI-Driven Content Discovery and Workflow Automation Bitcentral, a leader in media workflow solutions, is set to ...

12/03/2025

Jeff Lilly Named WGN-TV Director Of Technology

CHICAGO Jeff Lilly has been named WGN-TV director of technology effective March 17, 2025, according to Ric Harris, WGN-TV vice president and general manager....

12/03/2025

Survey: Consumers Want More Shoppable TV Experiences

MOUNTAIN VIEW, Calif. A new study from LG Ad Solutions indicates that consumers want more features that would allow them to shop for products on the connected T...

12/03/2025

IP Showcase To Focus On IP, Broadcast Tech Convergence at 2025 NAB Show

BOTHELL, Wash. The Alliance for IP Media Solutions (AIMS), Advanced Media Workflow Association (AMWA) and the Video Services Forum (VSF) will once again present...

12/03/2025

Comcast Boosts Internet Speeds for More Than 20 Million Customers

PHILADELPHIA Comcast announced that it has upgraded Xfinity Internet speeds for more than 20 million customers for no additional cost....

12/03/2025

Create with Maxon: Cinema 4D Fundamentals Workshop - March 12-14

Create with Maxon: Cinema 4D Fundamentals Workshop - March 12-14 Brie Clayton March 11, 2025 0 Comments Makin' Waffles with Elly Wade During Marc...

12/03/2025

Ross Video Strengthens Cloud Leadership with Appointment of Aaron Tunnell

Ottawa, Canada - March 12, 2025 - Ross Video is pleased to announce the appointment of Aaron Tunnell as Business Development Director, Cloud Solutions, reinforc...

12/03/2025

VEON to release 4Q 2024 trading update on 20 March 2025

12 Mar 2025 VEON to release 4Q 2024 trading update on 20 March 2025 Dubai, 12 March 2025 - VEON Ltd. (NASDAQ: VEON), a global digital operator, today confirms ...

12/03/2025

Getting Set for the Winter Olympics: Inside SVT's Ongoing Software-Based Production Evolution

Getting set for the Winter Olympics: Inside SVT's ongoing software-based pro...

12/03/2025

Seamless SMPTE 2110: A Discussion on Making the Move to IP Less Painful

Seamless SMPTE 2110: A Discussion on Making the Move to IP Less Painful Leaders from Netflix, Monumental Sports & Entertainment, LinkedI, and Megapixel address ...

12/03/2025

Opening Doors of Perception: Meta's Ajit Ninan on Rethinking AR/MR Perceptual Displays

Opening Doors of Perception: Meta's Ajit Ninan on Rethinking AR/MR Perceptua...

12/03/2025

Sky Sports Unveils Exciting Plans for 2025 Formula 1 Coverage

With the 2025 Formula 1 season set to begin in Melbourne on March 16, Sky Sports is gearing up to deliver its most comprehensive F1 coverage yet. Following a th...

12/03/2025

Unicanal and Trece TV revolutionize Digital TV in Paraguay with Rohde & Schwarz transmission solutions

Unicanal and Trece TV revolutionize Digital TV in Paraguay with Rohde & Schwarz ...

12/03/2025

Honoring Service, Celebrating Sport: Rohde & Schwarz UK Sponsors NavyFit Rugby Double-Header

Honoring Service, Celebrating Sport: Rohde & Schwarz UK Sponsors NavyFit Rugby D...