Species diversity helps ASU researchers refine analyses of human gene... (ement of this theory was found in the su...)

Species diversity helps ASU researchers refine analyses of human gene mutations

Date:9/3/2009

ement of this theory was found in the subset of mutations discovered in disease-associated genes. Such mutations are clustered in positions of the genome that are conserved over evolutionary time or in mutant protein sequences that are rarely seen. Amazingly, less than 10 percent of known single gene disease mutations are ever found in other species.

As Kumar notes, evolution has provided researchers with a storehouse of genetic mutations, many of which will prove benign for human health. "Suppose you had a mutation at a certain position," he explains, "and your dog has the same change as you have. It's most likely that that change is not harmful." By the same token, if no other species contains the mutation found in one's genome, it calls for further investigation.

Kumar stresses that it will take a combination of additional DNA sequencing data and improved understanding of protein function to refine the power of computer analyses. In the meantime, his bioinformatics evaluations of current computer tools suggest where such tests may be appropriately used for diagnosis with higher confidence and where their results are more likely to be unreliable.

With the costs of rapid DNA sequencing plummeting, individual genetic profiling is already becoming popular, offering every patient access to an enormous treasure trove of medically-relevant information. According to Kumar, the ultimate challenge will be sorting out what all this genetic information implies for each individual's prognosis. Only then will the promise of personalized medicine be fully realized.

'/>"/>

Contact: Joe Caspermeyer
joseph.caspermeyer@asu.edu
480-727-0369
Arizona State University
Source:Eurekalert

0

GOOD

Page: 1 2 3
Related biology news :

1. Global warming threatens tropical species, the ecosystem and its by-products
2. Scientists discover new species of crustacean on Lanzarote
3. Genome duplication responsible for more plant species than previously thought
4. Beautiful plumage: Feather color and sex start the species revolution
5. Red List overlooks island species
6. A global model for the origin of species independent of geographical isolation
7. Mystery E. coli genes essential for survival of many species
8. US-Mexico border wall could threaten wildlife species
9. Common fish species has human ability to learn
10. Sands of Gobi Desert yield new species of nut-cracking dinosaur
11. New species of phallus-shaped mushroom named after California Academy of Sciences scientist

Post Your Comments:

(Date:6/18/2013)... DNA and this modification can occur in millions ... scientists believed that this epigenetic phenomenon actively reduced ... of researchers from the University of Geneva (UNIGE), ... the Faculty of Medicine, reveals that this is ... may play both a passive and active role ...

(Date:6/17/2013)... in patients with severe brain infections in Vietnam. Further ... responsible for the symptoms of disease. , The virus ... 644 patients with severe brain infections in the study, ... the 122 patients with non-infectious brain disorders that were ... system are often fatal and patients who do survive, ...

(Date:6/17/2013)... improving original foundations with more modern elements. Using this ... Kenneth P. Dietrich School of Arts and Sciences have ... delivery, gas storage, and gas transport more efficient and ... the latest issue of the Journal of the ... recent work builds upon Pitt Associate Professor of Chemistry ...

Breaking Biology News(10 mins):The secret of DNA methylation 2 New virus isolated from patients with severe brain infections 2 New virus isolated from patients with severe brain infections 3 'Chemical architects' build materials with potential applications in drug delivery and gas storage 2

[0] The secret of DNA methylation [0] New virus isolated from patients with severe brain infections [0] 'Chemical architects' build materials with potential applications in drug delivery and gas storage

... relatedness of an animal food protein to a human protein ... by scientists from the Institute of Food Research in Norwich ... proteins have the potential to become allergens, but the study ... to act as allergens depends on their evolutionary distance from ...

... pathway that plays a critical role in the growth ... important insight into the development of the vascular system ... inhibiting the blood vessels that fuel cancers, diabetic eye ... published online on Oct. 14 in Nature Genetics. was ...

... 2007Today at the Prostate Cancer Foundations Annual Scientific Retreat, ... foods such as tomatoes and fish, maintaining a healthy ... help prevent prostate cancer, and help men live healthier ... will be diagnosed with prostate cancer in their lifetime, ...

Cached Biology News:Animal food allergens unmasked 2 Study reveals a key to blood vessel growth and possible drug target 2 Study reveals a key to blood vessel growth and possible drug target 3 Leading researchers to reveal comprehensive dos and don'ts for prostate cancer 2 Leading researchers to reveal comprehensive dos and don'ts for prostate cancer 3

Animal food allergens unmasked Study reveals a key to blood vessel growth and possible drug target Leading researchers to reveal comprehensive dos and don'ts for prostate cancer

(Date:6/18/2013)... -- RegeneCure announced today the start ... Bone Regeneration (GBR) Dental Membrane as a bone stimulating aid ... encountered when patients have a tooth replaced with a dental ... the implant. Consequently there is often a need to support ... regenerates. The bone substitute material, in turn, needs to be ...

(Date:6/18/2013)... June 18, 2013 The "Bioinformatics Market By ... Knowledge Management Tools & Data Analysis Services) & Application (Genomics, ... the Major Market Drivers, Restraints, and Opportunities in ... Asia-Pacific and Rest of World. ... 22 Figures 364 ...

(Date:6/18/2013)... , June 18, 2013 ... ) has announced the addition of the ... [Liposomes, Microspheres, & Nanoparticles], Devices [Disposables & ... & Auto Injectors] & Therapeutics [Diabetes & ... report to their offering. ...

(Date:6/18/2013)... Inflamax Research Inc., a full ... Phase I-IV clinical trials, announced today that they ... Environmental Technologies (NAET), a specialty air conditioning & ... servicing of mobile Environmental Exposure Chambers (EECs) used ... , Inflamax Research has proprietary Next ...

Breaking Biology Technology:RegeneCure Starts Clinical Study Using Polymeric Bone Stimulating Membrane for Dental Implants 2 RegeneCure Starts Clinical Study Using Polymeric Bone Stimulating Membrane for Dental Implants 3 Bioinformatics Market Worth $7.5 Billion by 2017 2 Bioinformatics Market Worth $7.5 Billion by 2017 3 Injectable Drug Delivery Market by Formulations, Devices & Therapeutics - Global Forecasts to 2017 2 Injectable Drug Delivery Market by Formulations, Devices & Therapeutics - Global Forecasts to 2017 3 Inflamax Research Inc. Enters Strategic Partnership with Northern Air Environmental Technologies Inc. 2 Inflamax Research Inc. Enters Strategic Partnership with Northern Air Environmental Technologies Inc. 3

[0] RegeneCure Starts Clinical Study Using Polymeric Bone Stimulating Membrane for Dental Implants [0] Bioinformatics Market Worth $7.5 Billion by 2017 [0] Injectable Drug Delivery Market by Formulations, Devices & Therapeutics - Global Forecasts to 2017 [0] Inflamax Research Inc. Enters Strategic Partnership with Northern Air Environmental Technologies Inc.

... Eastern Time -, SAN FRANCISCO, Nov. 10 ... corporate progress and financial,results for the quarter ended September ... of significant,achievement and progress and was capped with the ... collaboration not only gives us,access to a world-class partner ...

... Conference Call Today To Discuss the Data and Ongoing ... Clinical Development Programs, ... announced today top-line data from its,SB-509-601 clinical trial, one of Sangamo,s ... SB-509 for diabetic,neuropathy (DN). The data demonstrate that repeat administration of ...

... Divestitures of Non-Core Product Lines -, HOPKINTON, ... CALP ) today reported third quarter financial,results ... line divestitures: the,sale of its AutoTrace(R) product line ... of its Pharmaceutical Development and Quality Analysis,(PDQ) product ...

Medivation Reports Third Quarter 2008 Financial Results and Provides Corporate Update Sangamo BioSciences Announces Results From Diabetic Neuropathy Clinical Trial SB-509-601 Caliper Life Sciences Reports Third Quarter 2008 Results; Sharpens Growth Focus, Strengthens Balance Sheet and Reduces Costs

Blue Standard is 3-cyano-7-hydroxycoumarin....

Cyan Standard is 7-hydroxy-4-trifluoromethylcoumarin...

6-(2,4-dinitrophenyl)aminohexanoic acid, succinimidyl ester (DNP-X, SE)...

Endothelin-converting enzyme 1 (EC 3.4.24.71) (ECE-1). [Source:Uniprot/SWISSPROT;Acc:P42892] Antigen: Recombinant Protein Epitope Signature Tag (PrEST)....

Biology Products:

Fluorescent Standards Blue Standard from Invitrogen Fluorescent Standards Cyan Standard from Invitrogen 6-(2,4-dinitrophenyl)aminohexanoic acid, succinimidyl ester (DNP-X, SE) from Molecular Probes (Invitrogen)Rabbit Anti-Human ECE1 Polyclonal Antibody, Unconjugated from Atlas Antibodies