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, coo
'/>"/>

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

Page: 1 2

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:7/28/2014)... Roald Amundsen reached the South Pole in 1911, but ... before any human. , Using data from 16 ice ... continent, including the South Pole, a group led by ... Reno, Nevada, created the most accurate and precise reconstruction ... The new record, described in an article published today ...
(Date:7/28/2014)... among minerals and organic compounds in hydrothermal environments are ... provide energy for the deep biosphere, and may have ... is known about how minerals influence organic reactions. ... demonstrated how a common mineral acts as a catalysts ... for toxic solvents or expensive reagents. , At the ...
(Date:7/28/2014)... of juvenile rat brain cells suggests that the effects ... between brain cells are temporary. , The study, published ... ONE , was conducted by biologists at the University ... in New York in response to concerns, arising from ... exposing children to general anesthetics may increase their susceptibility ...
Breaking Biology News(10 mins):Lead pollution beat explorers to South Pole, persists today 2Lead pollution beat explorers to South Pole, persists today 3Mineral magic? Common mineral capable of making and breaking bonds 2Mineral magic? Common mineral capable of making and breaking bonds 3Study suggests disruptive effects of anesthesia on brain cell connections are temporary 2Study suggests disruptive effects of anesthesia on brain cell connections are temporary 3
... UT Southwestern Medical Center have discovered a basic mechanism ... vessels can grow ?sometimes abnormally ?suggesting methods of treatment ... blood vessels is involved in hypertension, coronary artery disease, ... this detailed mechanism, it is now possible to begin ...
... line that produced humans seems to be among the slowest. ... the European Molecular Biology Laboratory (EMBL), is that our species ... been lost in more quickly-evolving animals. This overturns a commonly-held ... The work appears in the current issue of the journal ...
... willow warblers and beaver dams once were bountiful in an ... wolves left this area, elk grew more plentiful, browsing heavily ... and sparrows have replaced the warblers in what is now ... absence of the wolf, a top predator. That's the compelling ...
Cached Biology News:UT Southwestern researchers unravel control of growing blood vessels 2The earliest animals had human-like genes 2The earliest animals had human-like genes 3Wolves' top-down effect 2
(Date:7/29/2014)... foam of atom-thick sheets can be made to any ... Rice University. , In microscopic images, the foam ... and walls that reinforce each other. The structure consists ... of graphene oxide that self-assemble with the assistance of ... the foam could find use in structural components, as ...
(Date:7/29/2014)... According to the new research ... (Image Analysis Software), Delivery Modes (Web Based/Cloud Based) & ... to 2018", published by MarketsandMarkets, analyzes and studies the ... North America , Europe ... Rest of the World (RoW). Browse 78 ...
(Date:7/29/2014)... , July 29, 2014  ImmunoClin Corporation (IMCL) ... medicine, treatment of infectious diseases as well as ... and prevention of pathologies like cardiovascular disease, Alzheimer,s ... 2014, ImmunoClin Corporation will complete the strategic relocation ... D.C. , a key center of North ...
(Date:7/29/2014)... , July 29, 2014  Sigma-Aldrich Corporation (NASDAQ: ... and energy use, increased its investment in Green Chemistry ... around the world last year, the Company announced Monday ... if Science Changed the World? The ... several honors for being a responsible corporate citizen, including ...
Breaking Biology Technology:Tough foam from tiny sheets 2Digital Pathology Market worth $437 Million by 2018 2Digital Pathology Market worth $437 Million by 2018 3ImmunoClin Corporation (IMCL) Relocates Corporate Headquarters to Washington, DC 2ImmunoClin Corporation (IMCL) Relocates Corporate Headquarters to Washington, DC 3Sigma-Aldrich Achieves Record Success in Environmental, Community Initiatives 2Sigma-Aldrich Achieves Record Success in Environmental, Community Initiatives 3
... 2011 BioStorage Technologies, Inc. a global provider ... cold chain logistics for the bioscience industry, will ... the International Contract Services Expo (ICSE), on Wednesday, ... The symposium will include two 1-hour presentations ...
... International, Inc. (OTC Pink: DYAI), a global biotechnology ... financial results for the third quarter ended September ... to discuss those financial results as follows: ...  After market close, Thursday, November 3, 2011. ...
... 2011 Verenium Corporation (Nasdaq: VRNM ), ... enzymes, today announced that it has entered into an ... the United States ("Ex-Im Bank") for two 18-month, secured ... These new credit facilities will allow the ...
Cached Biology Technology:BioStorage Technologies to Host Global Sample Management Benchmarking Symposium at International Contract Services Expo 2Verenium Announces Up to $16 Million in New Secured Financings 2Verenium Announces Up to $16 Million in New Secured Financings 3
... hydrolytic enzyme that catalyzes the conversion,of ... maltose, maltotriose and,dextrins. The level of ... human,body are of clinical importance,1-3 while ... for industry.4, The EnzChek Amylase Assay ...
Rat monoclonal [20d5] to NKG2A + C+ E ( Abpromise for all tested applications). Antigen: Tissue / cell preparation (Mouse): CHO transfected cells expressing the B6 allele of NKG2A. Entrez Gen...
... FL is equipped with ... measurement technologies that complement ... advanced features of Fluoroskan ... Fluoroskan Ascent FL provides ...
... Forma's stainless steel rack ... adjustable mechanism that permits ... shaking angles, and "snap-in" ... universal rack holder will ...
Biology Products: