Navigation Links
Causative gene of a rare disorder discovered by sequencing only protein-coding regions of genome
Date:11/19/2009

For the first time, scientists have successfully used a method called exome sequencing to quickly discover a previously unknown gene responsible for a mendelian disorder.

Mendelian disorders, such as cystic fibrosis and sickle cell disease, are the result of one or more mutations in a single gene, typically a gene that makes a protein. All of the regions that code for proteins taken together are called the exome. The exome makes up about 1 percent of the genome, but it is in this 1 percent that more than 85 percent of mutations that cause mendelian disorders are found. That is why sequencing the exome is an efficient strategy to search for genes that underlie rare genetic disorders.

The study, "Exome sequencing identifies the cause of a mendelian disorder," was led by University of Washington (UW) researchers and published Nov. 13 in Nature Genetics.

While most mendelian disorders are rare, there are 7,000-plus suspected mendelian disorders that in aggregate affect millions of people in the United States, according to Dr. Michael J. Bamshad, one of the senior authors of the study, a UW professor of genome sciences and pediatrics, and a pediatrician at Seattle Children's. "Our results show that scientists could use exome sequencing to identify the genetic cause for thousands of disorders for which the gene hasn't been discovered."

"One of the reasons that this strategy is so powerful is that the scientists need only use a small number of unrelated cases to find the gene," said the other senior author of the study, Dr. Jay Shendure, UW assistant professor of genome sciences.

Dr. James Kiley, director of the Division of Lung Diseases at the National Heart, Lung and Blood Institute, part of the National Institutes of Healths in Bethesda, Md., said, "Following the recent successes with genome-wide association studies, this promising technology will advance our understanding of the genetic variants of both c
'/>"/>

Contact: Leila Gray
leilag@u.washington.edu
206-685-0381
University of Washington
Source:Eurekalert  

Page: 1 2 3

Related biology news :

1. Depression and anxiety disorders of adolescents are not the same thing
2. Are the monoamines involved in shaping conduct disorders?
3. Fighting the burden of mental disorders
4. Researchers restore missing protein in rare genetic brain disorder
5. Researchers report gene associated with language, speech and reading disorders
6. Severe breathing disorders during sleep are associated with an increased risk of dying
7. UGA researchers propose model for disorders caused by improper transmission of chromosomes
8. Abnormal brain circuits may prevent movement disorder
9. U of M study identifies risk factors of disordered eating in overweight youth
10. New research finds possible genetic link to cause of pregnancy loss and disorders
11. Scripps Research scientists observe human neurodegenerative disorder in fruit flies
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Causative gene of a rare disorder discovered by sequencing only protein-coding regions of genome
(Date:5/10/2015)... -- Fingerprint Cards (FPC) has received an order ... distributor World Peace Industrial Group (WPI), part of WPG Holdings. ... . Deliveries are planned to take place during Q3 ... in China . The order value of ... + 1 000 MSEK for 2015.   Jörgen Lantto, ...
(Date:5/5/2015)... NXT-ID, Inc. (NASDAQ: NXTD ) ("NXT-ID" or the "Company"), ... market, reminds investors and media that  Mr. David Tunnell ... SECURE CONNEXIONS AMERICA 2015, held in Washington DC ... conference is organized into a series of nine session tracks. ... Fraud: Where is the Trust in Cyberspace? and will ...
(Date:4/21/2015)... Canada , April 21, 2015 ... and evolving government policies are boosting access control systems ... According to a recently published report by ... Opportunities, 2020 ", the access control systems market in ... nearly USD1.2 billion by 2020.The access control systems market ...
Breaking Biology News(10 mins):Fingerprint Cards Receives Touch Fingerprint Sensor Order of SEK 235 Million 2NXT-ID, Inc.'s CTO, David Tunnell, Presents at CARTES SECURE CONNEXIONS AMERICA 2015 Today in Washington DC. 2NXT-ID, Inc.'s CTO, David Tunnell, Presents at CARTES SECURE CONNEXIONS AMERICA 2015 Today in Washington DC. 3Saudi Arabia Access Control Systems Market to Touch USD1.2 Billion by 2020 Says TechSci Research 2Saudi Arabia Access Control Systems Market to Touch USD1.2 Billion by 2020 Says TechSci Research 3
... supervision of a Virginia Tech plant pathologist, a group ... characterized a formerly unknown group of bacteria. ... Pseudomonas syringae . One bacterium of this group, ... and is the first bacterium isolated on the Virginia ...
... presents Research & Entrepreneurship Day on April 30th, 2010 ... Stevens campus. R&E Day is a showcase of ... and student based research programs. It is also ... success in engineering solutions for the betterment of mankind. ...
... DALLAS April 21, 2010 UT Southwestern Medical ... onto molecules inside cells and marks them for destruction also ... The researchers discovered that a certain form of the "death" ... not mark it for destruction. Instead, this form of ubiquitin ...
Cached Biology News:Student research team sequences genome of bacterium discovered in Virginia Tech garden 2Research & Entrepreneurship Day 2010: Engineering Innovation 2
(Date:6/3/2015)... Photo-Eyewear™ ( http://www.PhotoEyewear.com ) announced ... Inc. ( http://www.PogoTec.com ) to better reflect the ... and technologies it is developing and plans to commercialize. ... PogoTec™ will provide focused resources to drive key areas ... , On-Track™ – There are well over ...
(Date:6/3/2015)... (PRWEB) June 03, 2015 Global ... Training, Inc. have announced plans to conduct Romania’s first ... 2015. Through an alliance with Miami-based Stem Cell Training, ... conduct the Adipose and Bone Marrow Stem Cell Training ... a reconstructive plastic surgery specialist practicing in Bucharest and ...
(Date:6/2/2015)... June 2, 2015 TapImmune, Inc. (OTCQB: TPIV), ... investors have reached an agreement whereby the institutional investors ... warrants to provide the Company up to $4.93M in ... S-1 registration statement. Under the restructured terms and subject ... additional warrants which could result in a larger influx ...
(Date:6/2/2015)... 2015 Research and Markets ( http://www.researchandmarkets.com/research/6wjpd6/bioburden_testing ) ... Market by Product , Test, Application & End User ... The bioburden testing market is expected to ... 2014, growing at a CAGR of 9.8% from 2014 ... microbial limit testing market is segmented into consumables and ...
Breaking Biology Technology:Photo-Eyewear™ Changes Name to PogoTec™ and Announces Three Divisions 2Photo-Eyewear™ Changes Name to PogoTec™ and Announces Three Divisions 3Global Stem Cells Group Announces First Stem Cell Training Course to Take Place in Romania 2Global Stem Cells Group Announces First Stem Cell Training Course to Take Place in Romania 3TapImmune Announces Agreement To Facilitate Near Term Capital Infusion; Expediting Path Toward Phase II Trial Initiation 2TapImmune Announces Agreement To Facilitate Near Term Capital Infusion; Expediting Path Toward Phase II Trial Initiation 3Bioburden Testing Market 2015 - Global Forecasts to 2019 2
... give way to summer heat, long weekends and beach vacations, ... the nightstand and imagine that we'll have just enough time ... ,Recently, I had occasion to ask a number of tech ... both classic business texts and insightful new offerings ...
... a speech given April 27, President Bush proclaimed that health care ... century health care system [which] uses a 19th century paperwork system. ... Yasnoff , a physician and computer scientist who serves as ... the US. Dept of Human Services, declared it to ...
... with UW health will address how IT can be leveraged ... companies lead the nation in this effort. , ,MADISON ... a lack of data lead to as many as 100,000 ... Wisconsin Technology Network will host their 2nd Annual Digital ...
Cached Biology Technology:DEMOletter's Summer Reading List 2DEMOletter's Summer Reading List 3DEMOletter's Summer Reading List 4Federal advisor to HHS describes the national information infrastructure 2Federal advisor to HHS describes the national information infrastructure 3Federal advisor to HHS describes the national information infrastructure 4Wisconsin Technology Network presents symposium on saving lives by the use of Information Technology 2Wisconsin Technology Network presents symposium on saving lives by the use of Information Technology 3
... system consists of [5-Bromo-4-Chloro-3-,Indolyl Phosphate/Nitro ... single component,solution. The ready-to-use BCIP/NBT ... of alkaline phosphatase to produce ... noise. ,The System Contains: , ...
...
... is primarily used for the preparation of ... for tracing. NH2-Reactive B-Phycoerythrin, a component of ... can easily make a covalent bond with ... without any activation process. Filtration Tube included ...
Mouse polyclonal antibody raised against a partial recombinant RDH5. NCBI Entrez Gene ID = 5959...
Biology Products: