Navigation Links
Genetic sequencing alone doesn't offer a true picture of human disease
Date:1/23/2011

DURHAM, N.C. Despite what you might have heard, genetic sequencing alone is not enough to understand human disease. Researchers at Duke University Medical Center have shown that functional tests are absolutely necessary to understand the biological relevance of the results of sequencing studies as they relate to disease, using a suite of diseases known as the ciliopathies which can cause patients to have many different traits.

"Right now the paradigm is to sequence a number of patients and see what may be there in terms of variants," said Nicholas Katsanis, Ph.D. "The key finding of this study says that this approach is important, but not sufficient. If you really want to be able to penetrate, you must have a robust way to test the functional relevance of mutations you find in patients. For a person at risk of type 2 diabetes, schizophrenia or atherosclerosis, getting their genome sequenced is not enough you have to functionally interpret the data to get a sense of what might happen to the particular patient."

"This is the message to people doing medical genomics," said lead author Erica Davis, Ph.D., Assistant Professor in the Duke Department of Pediatrics, who works in the Duke Center for Human Disease Modeling. "We have to know the extent to which gene variants in question are detrimental how do they affect individual cells or organs and what is the result on human development or disease? Every patient has his or her own set of genetic variants, and most of these will not be found at sufficient frequency in the general population so that anyone could make a clear medical statement about their case."

Davis, working in the lab of Katsanis, and in collaboration with many ciliopathy labs worldwide, sequenced a gene, TTC21B, known to be a critical component of the primary cilium, an antenna-like projection critical to cell function.

While a few of the mutations could readily be shown to cause two main human disorders, a kid
'/>"/>

Contact: Mary Jane Gore
mary.gore@duke.edu
919-660-1309
Duke University Medical Center
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Rare genetic disorder gives clues to autism, epilepsy, mental retardation
2. Genetic Engineering & Biotechnology News reports on growing role of molecular diagnostics
3. Study finds genetic variant plays role in cleft lip
4. Genetic finding implicates innate immune system in major cause of blindness
5. American College of Medical Genetics receives $13.5M NIH contract
6. Clue to genetic cause of fatal birth defect
7. Can genetic information be controlled by light?
8. The American Society of Human Genetics hosts 58th Annual Meeting in Philadelphia
9. Modern genetics vs. ancient frog-killing fungus
10. Genetic based human diseases are an ancient evolutionary legacy
11. Genetic evidence for avian influenza movement from Asia to North America via wild birds
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/21/2014)... 21, 2014 /PRNewswire-iReach/ -- LiveScan Service Provider  ... to a partnership with Gabriel Health Institute, one ... growing Certified Nursing Assistant preparatory schools. The ... exclusive member of Binary,s LiveScan service provider,s owner/operator ... improve its service capabilities by widening the ...
(Date:8/21/2014)... finding that has implications for life in other extreme ... solar system, LSU Associate Professor of Biological Sciences Brent ... Foundation, or NSF, this week published a paper confirming ... lies 800 meters (2600 feet) beneath the surface of ... Given that more than 400 subglacial lakes and numerous ...
(Date:8/21/2014)... to Wednesday, Oct. 18-22, 2014 , WHERE: ... Drive, San Diego, CA 92101 , WHAT: ... presentations of the latest research in human genetics. ... featuring high-scoring abstracts on rare genetic variants in ... and treatment for sun sensitivity (Saturday, Oct. 18, ...
Breaking Biology News(10 mins):LiveScan Provider Binary Biometrics Announces Partnership with Preeminent CNA School, Gabriel Health Institute to Expand Services in Orlando Region 2LiveScan Provider Binary Biometrics Announces Partnership with Preeminent CNA School, Gabriel Health Institute to Expand Services in Orlando Region 3800 meters beneath Antarctic ice sheet, subglacial lake holds viable microbial ecosystems 2800 meters beneath Antarctic ice sheet, subglacial lake holds viable microbial ecosystems 3800 meters beneath Antarctic ice sheet, subglacial lake holds viable microbial ecosystems 4American Society of Human Genetics 2014 Annual Meeting 2
... A potential new treatment for alcoholism called nalmefene ... alcohol dependent individuals, says a new study published this ... has been regarded as the primary treatment goal for ... approved only for relapse prevention. However, relapse rates remain ...
... unprecedented threat from climate change, overfishing, pollution, invasive ... researcher is helping coordinate national efforts to monitor ... for food, medicine, transportation and recreation, yet little ... 70 percent of the Earth,s surface are functioning ...
... bacteria that adhere to surfaces and build protective coatings ... pathogen Salmonella . One out of every six ... over a million illnesses caused by Salmonella bacteria, ... out what makes Salmonella resistant to antibacterial measures ...
Cached Biology News:A new treatment option for alcohol dependence: Reduced consumption rather than abstinence 2Scientists stress need for national marine biodiversity observation network 2Scientists stress need for national marine biodiversity observation network 3Biofilms help Salmonella survive hostile conditions, Virginia Tech researchers say 2
(Date:8/21/2014)... 21, 2014 OTC Markets Group ... a biotechnology company, on its approval to list ... on OTCQX®, the best marketplace for established U.S. ... Logo - http://photos.prnewswire.com/prnh/20110118/MM31963LOGO ... execution of its growth strategy and achievement of ...
(Date:8/21/2014)... Pursuit Solutions ( http://www.pursuit-solutions.com ), a ... for Life Sciences sales and marketing organizations, announced ... Commercial Sales Models” by Peter Robinson, co-founder and ... examines some innovative models used to improve sales ... the pharmaceutical market. Robinson grades the industry on ...
(Date:8/21/2014)... (PRWEB) August 21, 2014 ... has been recognized as one of the nation’s ... 5000 magazine for the 2nd consecutive year. Inc. ... 33rd annual Inc. 500|5000, an exclusive ranking of ... the most comprehensive look at the most important ...
(Date:8/20/2014)... licensed to biotechnology firms has revealed early bottlenecks ... roadblocks, the researchers suggest that better communication of ... lead to faster commercialization down the road. , ... in university laboratories and licensed to biotechnology firms. ... have a high failure rate. But a new ...
Breaking Biology Technology:OTC Markets Group Congratulates Immune Pharmaceuticals on NASDAQ Listing 2Pursuit's Peter Robinson Publishes "Grading Pharma's Use of New Commercial Sales Models" 2SoundConnect Returns on Inc. 5000 List of Fastest Growing Companies 2SoundConnect Returns on Inc. 5000 List of Fastest Growing Companies 3Early bottlenecks in developing biopharmaceutical products delay commercialization 2Early bottlenecks in developing biopharmaceutical products delay commercialization 3
... ... to holding a spring medical device package testing seminar in March of 2010 , ... Minneapolis, MN (PRWEB) February 2, 2010 ... testing , has confirmed that it will host a packaging seminar focused towards the medical ...
... , , , , , , ... Bioscience, a company,providing customized enzymes to the pharmaceutical, chemical, and other,industries, ... EUR 2,million from existing shareholders. , ... families to,its product portfolio and to accelerate the development of international,markets. ...
... ... 2 The biomedical industry is one of the most recession-resilient ... innovation, job growth and revenue that will help lead the state to ... Healthcare Institute (CHI) and PricewaterhouseCoopers LLP (PwC).  But, the report points ...
Cached Biology Technology:DDL to Host Spring Packaging Seminar 2EUCODIS Bioscience Receives EUR 2 Million Cash Injection to Enlarge Product Portfolio and Develop International Markets 2EUCODIS Bioscience Receives EUR 2 Million Cash Injection to Enlarge Product Portfolio and Develop International Markets 3Biomedical Industry Jobs Critical to California's Economic Recovery, Finds California Healthcare Institute and PricewaterhouseCoopers 2Biomedical Industry Jobs Critical to California's Economic Recovery, Finds California Healthcare Institute and PricewaterhouseCoopers 3Biomedical Industry Jobs Critical to California's Economic Recovery, Finds California Healthcare Institute and PricewaterhouseCoopers 4Biomedical Industry Jobs Critical to California's Economic Recovery, Finds California Healthcare Institute and PricewaterhouseCoopers 5Biomedical Industry Jobs Critical to California's Economic Recovery, Finds California Healthcare Institute and PricewaterhouseCoopers 6Biomedical Industry Jobs Critical to California's Economic Recovery, Finds California Healthcare Institute and PricewaterhouseCoopers 7Biomedical Industry Jobs Critical to California's Economic Recovery, Finds California Healthcare Institute and PricewaterhouseCoopers 8
...
... purification systems provide high speed purification of ... offer increased throughput and reproducible results. The ... mL and KingFisher 96, covering sample volumes ... consists of an instrument, specially designed plastics ...
Candida (IgA) -Ab EIA Sample Size: 5 l...
... Oxidized LDL (Competitive) EIA Principle: ... the monoclonal antibody 4E6. Oxidized LDL in the ... LDL bound to the microtiter well for the ... a washing st Sample Size: 25 ...
Biology Products: