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:12/10/2014)... Dec. 9, 2014  Valencell, a leader in performance ... a staggering demand from its licensees for highly accurate, ... is not solely coming from fitness and health sectors, ... "A wearable is only as useful as the ... the ultimate driver in long-term mass consumer adoption of ...
(Date:12/10/2014)... 9, 2014     ...   Jifflenow, a ... solutions for business-to-business (B2B) events, today announced a ... mobile near-field communication (NFC), Bluetooth low energy (BLE), ... http://photos.prnewswire.com/prnh/20140612/691055) , Jifflenow will integrate its ...
(Date:12/3/2014)...   Marvin Test Solutions , a trusted ... military, aerospace, and manufacturing organizations, today announced the ... TS-900 PXI semiconductor test platform . The TS-960 ... to customers at a fraction of the footprint ... "Our semiconductor customers asked for ...
Breaking Biology News(10 mins):Wearable Technology Products Demand Highly Accurate Biometric Technology 2Jifflenow And ITN International Bring Cutting-Edge Badge Scanning Technology To B2B Events 2Jifflenow And ITN International Bring Cutting-Edge Badge Scanning Technology To B2B Events 3Marvin Test Solutions Brings New Capabilities to PXI-Based Semiconductor Test with TS-960 2Marvin Test Solutions Brings New Capabilities to PXI-Based Semiconductor Test with TS-960 3
... illegal in many countries as it can be contaminated ... milk, making it taste bitter and turn thick and ... that can grow at low temperatures, spoiling raw milk ... in the November issue of the International Journal ...
... measurements in global climate studies University of Iowa researchers ... estimates of the amount of carbon absorbed by plants from ... land cover change estimates, according to a paper published in ... By knowing the effects of plants on the atmosphere, ...
... the open ocean may force scientists to rethink their understanding ... A paper describing the new findings appears in the November ... research team led by Jonathan Zehr, a marine scientist at ... by analyzing its genetic material, even though researchers have not ...
Cached Biology News:New bacteria discovered in raw milk 2New bacteria discovered in raw milk 3UI researchers help to improve carbon measurements in global climate studies 2Mysterious microbe plays important role in ocean ecology 2Mysterious microbe plays important role in ocean ecology 3
(Date:12/19/2014)... , Dec. 18, 2014 Relmada Therapeutics, ... for the treatment of chronic pain, announced the results ... "This was a transformational year in Relmada,s ... future for our company," said Sergio Traversa , ... we have executed on key financial, human resource and ...
(Date:12/17/2014)... 2014 Achim Noack has been named ... Group. In this position, Noack will assist Jerry Stoller, ... develop marketing strategy and supervise global marketing management and ... has tremendous knowledge and experience in the crop protection ... experience and innovative thinking will be a great asset ...
(Date:12/17/2014)... 2014 Xeno Diagnostics has again ... most recent COLA inspection. Xeno has met all ... healthcare accreditation organization. Accreditation is earned only by ... day-to-day operations, demonstrate continued accuracy in the performance ... laboratory survey. , While the Laboratory ...
(Date:12/17/2014)... , Dec. 17, 2014  United Therapeutics Corporation ... executive promotions as well as changes to Martine ... Executive Promotions United Therapeutics announced the ... and Co-Chief Executive Officer and David Zaccardelli , ... In connection with these promotions, Dr. Rothblatt,s title will ...
Breaking Biology Technology:Relmada Therapeutics Announces Results of Annual Shareholders Meeting 2Achim Noack Joins Stoller Group as Global Vice President of Marketing and Administration 2Xeno Diagnostics Receives 3rd Award for Laboratory Excellence 2United Therapeutics Corporation Announces Executive Promotions and CEO Compensation Change 2United Therapeutics Corporation Announces Executive Promotions and CEO Compensation Change 3United Therapeutics Corporation Announces Executive Promotions and CEO Compensation Change 4
... Nokia,s new website, which provides innovative ways to interact with thought ... , ... San Francisco, CA (PRWEB) February 12, 2009 -- ... genetic testing service 23andme, says that as we further our understanding ...
... OriGene Technologies, Inc. ("OriGene") today announced it ... private equity financing. With this financing, OriGene completed ... Shenzhen P&A Biotech, a manufacturer and provider of ... this acquisition OriGene completes the establishment of its ...
... for the control of parasites in agriculture and medicine, today announced that ... will further its efforts to create solutions for one of the major ... ... (PREWB) February 11, 2009 -- Biotechnology firm Divergence, Inc., a world leader ...
Cached Biology Technology:Famed IT Investor and Director of 23andme Esther Dyson Identifies on IdeasProject.com Genetic Information as an Extremely Disruptive Force 2Famed IT Investor and Director of 23andme Esther Dyson Identifies on IdeasProject.com Genetic Information as an Extremely Disruptive Force 3OriGene Technologies, Inc. Establishes High Throughput Monoclonal Antibody Production Outsourcing Center in China 2Divergence Raises $11.8 Million in Series C Financing 2Divergence Raises $11.8 Million in Series C Financing 3
... 6850 Networked GC is an excellent choice for ... a standard dual-channel GC, this one-channel workhorse can ... the space of one. You get all the ... analyses in an instrument that has the same ...
... CP-4900 is a rugged, compact, ... the information you need - ... composition of gas mixtures is ... Chromatograph generates more data in ...
The novel and unique HCTplus delivers unmatched information-rich data-dependent LC/MSn data for todays challenge in proteomics and metabonomics work....
... Plus is a small and ... market for both LC and IC. It ... Atmospheric Pressure Ionization (API) source for outstanding ... is compatible with existing LC and IC ...
Biology Products: