Navigation Links
Comprehensive study using bioinformatics predicts the molecular causes of many genetic diseases
Date:2/9/2010

It is widely known that genetic mutations cause disease. What are largely unknown are the mechanisms by which these mutations wreak havoc at the molecular level, giving rise to clinically observable symptoms in patients. Now a new study using bioinformatics, led by scientists at the Buck Institute for Age Research, reports the ability to predict the molecular cause of many inherited genetic diseases. These predictions involve tens of thousands of genetic disease-causing mutations and have led to the creation of a web-based tool available to academic researchers who study disease. The research is due to be published online in the February 9, 2010 edition of Human Mutation.

"We now have a quantitative model of function using bioinformatic methods that can predict things like the stability of the protein and how its stability is disrupted when a mutation occurs," said Buck Institute faculty member Sean Mooney, PhD, who led the research team. "Traditionally people have used a very time consuming process based on evolutionary information about protein structure to predict molecular activity," Mooney said, "I think we're the first group to really quantitatively describe the universe of molecular functions that cause human genetic disease."

The research was done in the contexts of inherited single gene diseases, complex diseases such as cardiovascular and developmental disorders and mutations in cancerous tumors. The study focused on amino acid substitutions (AAS), which are genetically driven changes in proteins that can give rise to disease, and utilized a series of complex mathematical algorithms to predict activity stemming from the mutations.

As a first step, researchers used available databases of known sites of protein function and built mathematical algorithms to predict new sites of protein function said Mooney. They then applied the algorithms to proteins that have disease-associated mutations assigned to them and loo
'/>"/>

Contact: Kris Rebillot
krebillot@buckinstitute.org
415-209-2080
Buck Institute for Age Research
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. First comprehensive review of the state of Antarcticas climate
2. Comprehensive understanding of bacteria could lead to new insights into many organisms
3. Comprehensive look at rare leukemia finds relatively few genetic changes launch disease
4. Stanford researchers publish comprehensive model for medical device development
5. First comprehensive guidelines for managing medullary thyroid carcinoma published in Thyroid journal
6. Uniloc Unveils Industry-First Authentication Technology for Comprehensive Protection of Critical Infrastructure
7. Comprehensive cardiogenetic testing for families of sudden unexplained death victims can save lives
8. Uniloc Unveils Industry-First Authentication Technology for Comprehensive Protection of Critical Infrastructure
9. Comprehensive genetic study paves way for new blood-pressure medicines
10. Scientists develop method for comprehensive proteome analysis
11. First comprehensive inventory of life in Antarctica
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/23/2015)... , March 23, 2015   HOYOS Labs , ... company, today announced that the Company will demonstrate multiple ... enterprise and consumers at Connect:ID on March 23 through ... HOYOS Labs will highlight the IEEE Biometric Open Protocol ... ; and enterprise access control system. BOPS was invented ...
(Date:3/20/2015)... NXT-ID, Inc. (NASDAQ: NXTD ) ("NXT-ID" ... the growing mobile commerce market, announces its biometric payment ... products featured in 2015 "I Want That" International CES ... on the DIY Network.   DIY,s "I ... , site of the 2015 International CES for a ...
(Date:3/17/2015)... Emotient, the leader in facial expression ... availability of Emotient Analytics , the world,s ... facial expressions. The system analyzes videos of people ... services. It delivers audience response metrics - such ... derived from facial evidence of emotional states. Consumer ...
Breaking Biology News(10 mins):HOYOS Labs to Showcase Host of Biometrics Technologies at Connect:ID in Washington, D.C. 2HOYOS Labs to Showcase Host of Biometrics Technologies at Connect:ID in Washington, D.C. 3NXT-ID's Wocket Biometric Smart Wallet to Air on "I Want That" International CES Special 2NXT-ID's Wocket Biometric Smart Wallet to Air on "I Want That" International CES Special 3New Emotient Web Service Measures Audience Response Using On-Demand Facial Expression Analysis 2New Emotient Web Service Measures Audience Response Using On-Demand Facial Expression Analysis 3New Emotient Web Service Measures Audience Response Using On-Demand Facial Expression Analysis 4
... Protection Agency (EPA) has awarded nearly $2.5 million ... eight key environmental areas: monitoring and control of ... hazardous waste monitoring, water infrastructure, homeland security, nanotechnology ... received "proof of concept" awards from EPA, and ...
... -- Tufts University,s School of Arts and Sciences has ... that will house a Collaborative Cluster in Genome Structure ... will bring together experts in such areas as genome ... engineering to focus on "genome to organism" research to ...
... Researchers from Mahidol University have developed a rapid, ... The related report by Munkongdee et al, "Rapid ... the May 2010 issue of The Journal of ... caused by a genetic defect in the production of ...
Cached Biology News:EPA awards small businesses to develop new environmental technologies 2Tufts wins NCRR grant for Collaborative Cluster in Genome Structure and Developmental Patterning 2Tufts wins NCRR grant for Collaborative Cluster in Genome Structure and Developmental Patterning 3
(Date:3/26/2015)... March 26, 2015 Ale Gicqueau, Founder ... Director of Clinical Affairs at Align Technology, on “ ... the upcoming ACRP 2015 Global Conference and Exhibition on ... Utah. , During the poster presentation, Ale Gicqueau ... and running a Postmarket Registry, the requirements and resources ...
(Date:3/25/2015)... is one of the most attractive in the emerging ... a growing economy and increasing government investment in healthcare, ... Russian market is set to grow at twice the ... around 10-15% annually reaching an approximate market value of ... Green Cross provides total healthcare solutions that ...
(Date:3/25/2015)... , March 25, 2015 /PRNewswire/ - SQI Diagnostics Inc. ("SQI" ... as a result of recent discussions with certain shareholders ... of the Company, after dealing with certain matters including ... meeting of shareholders on March 26, 2015 (the "Meeting") ... election of directors will take place when the Meeting ...
(Date:3/25/2015)... The surging prevalence of internet use ... media growth, with over 50% of the world’s ... Insurance companies are making use of social media ... a diversity of their services and products. , ... networking services as part of sales and marketing, ...
Breaking Biology Technology:Clinovo Presents at ACRP 2015 in Salt Lake City, Utah on April 25th-28th 2Clinovo Presents at ACRP 2015 in Salt Lake City, Utah on April 25th-28th 3SQI Diagnostics Inc. Announces New Nominees to SQI Diagnostics Board and Adjournment of Meeting 2SQI Diagnostics Inc. Announces New Nominees to SQI Diagnostics Board and Adjournment of Meeting 3SQI Diagnostics Inc. Announces New Nominees to SQI Diagnostics Board and Adjournment of Meeting 4SQI Diagnostics Inc. Announces New Nominees to SQI Diagnostics Board and Adjournment of Meeting 5Social Media Role in Global Insurance Industry Examined by Timetric in New Market Research Report Published at MarketPublishers.com 2Social Media Role in Global Insurance Industry Examined by Timetric in New Market Research Report Published at MarketPublishers.com 3
... , , , EMERYVILLE, ... company, announced today that new research data will be delivered ... on Antimicrobial Agents and Chemotherapy (ICAAC) in San Francisco, CA ... a multi-institutional collaborative in vitro study of Adamas, ...
... , , ... MASI ), the inventor of Pulse CO-Oximetry(TM) and ... its Radical-7 and Rad-57 Pulse CO-Oximeters have achieved Airworthiness ... certification is a fundamental milestone that allows the U.S. ...
... LAUSANNE, Switzerland, September 3 Debiopharm Group, SA,(Debiopharm), ... focus on the development of prescription drugs that ... Sciences Award, to Dr Lluis,Quintana-Murci from the Institut ... the emerging field of evolutionary genetics of,infection. Funded ...
Cached Biology Technology:Adamas Pharmaceuticals to Present Data on Triple Combination Antiviral Drug Therapy for Drug-Resistant Influenza at 2009 ICAAC Annual Meeting 2Masimo Radical-7(R) and Rad-57(R) Pulse CO-Oximeters(TM) Awarded Airworthiness Release Certification by the United States Army 2Masimo Radical-7(R) and Rad-57(R) Pulse CO-Oximeters(TM) Awarded Airworthiness Release Certification by the United States Army 3Masimo Radical-7(R) and Rad-57(R) Pulse CO-Oximeters(TM) Awarded Airworthiness Release Certification by the United States Army 4The Debiopharm Life Sciences Award Goes to Dr Lluis Quintana-Murci for his Novel and Original Research on the Human Evolutionary Genetics of Infection 2The Debiopharm Life Sciences Award Goes to Dr Lluis Quintana-Murci for his Novel and Original Research on the Human Evolutionary Genetics of Infection 3
PCR System for increased fidelity, yield and length of PCR products. Amplifies targets up to 10 kb from human genomic DNA....
Request Info...
Immunogen: Heat inactivated bacterial cells of Salmonella enteriditis,paratyphi and typhimurium Storage: 4 C...
US Pharmacopoeia Purified-Water/Water-for-Injection Quality Water...
Biology Products: