Navigation Links
First-of-its-kind web portal to bolster research and treatment for rare diseases
Date:2/28/2014

A new web portal called PhenomeCentral is being launched today to connect clinicians and scientists worldwide in an effort to speed the discovery of genes responsible for rare disorders.

More than 350 million people suffer from over 7,000 rare diseases worldwide and the genetic cause for at least half of these diseases is still unknown representing an enormous unmet medical need. According to the International Rare Disease Research Consortium (IRDiRC) there is a global push to identify genes for most genetic diseases by 2020, and PhenomeCentral represents a critical first step.

"PhenomeCentral securely stores clinical and genetic information on patients with undiagnosed rare diseases," said co-lead Michael Brudno, an associate professor with the University of Toronto's Department of Computer Science who also holds an appointment in the Centre for Computational Medicine at The Hospital for Sick Children. "Clinicians will upload information and the database will automatically and anonymously match patients with similar genome and phenotypes. This will enable faster diagnoses and simpler identification of the genetic cause of rare diseases."

"We see patients affected by extremely rare or even new, undescribed disorders. Having the ability to refer to cases with similar symptoms, anywhere in the world, is a critical step forward for rare disease research and seeing to the care of our patients," said William Gahl, director of the Undiagnosed Diseases Program at the National Institutes of Health (NIH) in Bethesda, Md.

Rare disease research is conducted in disparate centres all over the world, but the rarity of the conditions makes it imperative for researchers to collaborate in a timely and reliable way. "Being able to 'plug in' a tool like PhenomeCentral to our data-sharing platform means that we can make use of the power of its match-making abilities to find similar patients and advance research," said Hanns Lochmller, coordinator of the EU-funded RD-Connect project.

"Canada has already identified over 60 novel rare disease genes in the past two years," said Dr. Kym Boycott, co-lead of PhenomeCentral , geneticist and senior scientist at the Children's Hospital of Eastern Ontario (CHEO). "PhenomeCentral was born out of CARE for RARE which is a pan-Canadian research initiative that goes beyond identifying rare disease genes to develop treatments for better health outcomes. It's exciting to see how the rest of the world is fully supporting PhenomeCentral and contributing data. Together, researchers around the world are going to successfully crack the code for thousands of patients with unsolved conditions."

Global partners of PhenomeCentral include the NIH Undiagnosed Diseases Program in the United States, CARE for RARE Australia, Finding of Rare Disease Genes (Canada), RD-Connect (Europe and Australia), and the International Rare Disease Research Consortium .

PhenomeCentral is funded by the Canadian Institutes of Health Research (CIHR), Genome Canada, the Ontario Genomics Institute, as well as the National Sciences and Engineering Research Council (NSERC) through the Collaborative Health Research Program.


'/>"/>

Contact: Adrienne Vienneau
avienneau@cheo.on.ca
613-737-7600 x4144
Children's Hospital of Eastern Ontario Research Institute
Source:Eurekalert

Related biology news :

1. First-of-its-kind study reveals surprising ecological effects of earthquake and tsunami
2. New DataONE portal streamlines access to environmental data
3. Findings bolster fibers role in colon health
4. Increased Focus on Security Bolsters Growth of Biometrics Market in Asia-Pacific, Finds Frost & Sullivan
5. Researchers reveal the dual role of brain glycogen
6. Montreal researchers find a link between pollutants and certain complications of obesity
7. CNIO researchers discover new strategies for the treatment of psoriasis
8. Researchers trap moths with plant-produced sex pheromone
9. New research indicates causal link between vitamin D, serotonin synthesis and autism
10. 3D microgels on-demand offer new potential for cell research
11. Research: Fructose not responsible for increase in non-alcoholic fatty liver disease
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/24/2017)... Controller General of Immigration from Maldives Mr. Mohamed Anwar and ... international IAIR Award for the most innovative high security ePassport and eGates  ... ... Maldives Immigration Controller General, Mr. Mohamed Anwar ... right) have received the IAIR award for the "Most innovative high security ...
(Date:3/23/2017)... Mar. 23, 2017 Research and Markets has ... Analysis & Trends - Industry Forecast to 2025" report to ... ... a CAGR of around 8.8% over the next decade to reach ... analyzes the market estimates and forecasts for all the given segments ...
(Date:3/22/2017)... , March 21, 2017 Vigilant ... company serving law enforcement agencies, announced today the appointment ... as director of public safety business development. ... law enforcement experience, including a focus on the aviation ... his most recent position, Mr. Sheridan served as the ...
Breaking Biology News(10 mins):
(Date:8/15/2017)... ... August 15, 2017 , ... Any expert in stem cell ... these disciplines for more than half a century. Despite their essential roles in ... is widely known that molecular tags developed for this purpose also tag other, more ...
(Date:8/15/2017)... ... August 15, 2017 , ... ... by various biotic and abiotic factors. During this educational webinar, participants will learn ... as well as gain a better understanding of how genomics is important for ...
(Date:8/14/2017)... , ... August 14, 2017 , ... ... essential device-to-computer interconnect using USB or PCI Express, announced the release of SYZYGY™, ... is intended to satisfy the need for a compact, low cost, low pin-count, ...
(Date:8/11/2017)... Texas (PRWEB) , ... August 11, 2017 , ... A ... rebranding campaign this month that will incorporate important key elements including a new digital ... the community that has supported them, Bill Miller has partnered with the South Texas ...
Breaking Biology Technology: