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 $13.5M NIH contract
6. Clue to genetic cause of fatal birth defect
7. Can genetic information be controlled by light?
8. The American Society of Human Genetics hosts 58th Annual Meeting in Philadelphia
9. Modern genetics vs. ancient frog-killing fungus
10. Genetic based human diseases are an ancient evolutionary legacy
11. Genetic evidence for avian influenza movement from Asia to North America via wild birds
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/6/2015)... REDWOOD CITY, Calif. , Aug. 6, 2015 ... (D-Silicon Valley) will visit Crossmatch ™ to ... secure networks and protect data. Crossmatch is a ... solutions whose technologies and expertise are helping federal ... operational efficiency and security.   "The ...
(Date:8/5/2015)... 5, 2015 Transparency Market Research ... Market - Global Industry Analysis, Size, Share, Growth, Trends ... facial recognition is forecast to reach US$ 2,671.8 Mn ... for surveillance systems by civil and government agencies. This ... and terrorist activities across the globe that would elevate ...
(Date:8/3/2015)... SAN JOSE, Calif. , Aug. 3, 2015 /PRNewswire/ ... developer of human interface solutions, today announced that members ... investment community at the Pacific Crest Global Technology Leadership ... Mountain Time. The conference will be held at the ... The presentation may include forward-looking information. ...
Breaking Biology News(10 mins):Rep. Honda to Visit Crossmatch in Redwood City 2Facial Recognition Market Expected to Reach US$ 2.67 Bn by 2022, at a CAGR of 9.5% From 2015 - 2022: Transparency Market Research 2Facial Recognition Market Expected to Reach US$ 2.67 Bn by 2022, at a CAGR of 9.5% From 2015 - 2022: Transparency Market Research 3Facial Recognition Market Expected to Reach US$ 2.67 Bn by 2022, at a CAGR of 9.5% From 2015 - 2022: Transparency Market Research 4Facial Recognition Market Expected to Reach US$ 2.67 Bn by 2022, at a CAGR of 9.5% From 2015 - 2022: Transparency Market Research 5Facial Recognition Market Expected to Reach US$ 2.67 Bn by 2022, at a CAGR of 9.5% From 2015 - 2022: Transparency Market Research 6
... are increasingly obtaining endangered or threatened plants, often illegally, and ... in the journal Nature by Patrick Shirey and ... University of Notre Dame. According to their research last ... threatened and endangered under the US Endangered Species Act are ...
... Alberta researchers determined that a fossilized dinosaur bone found in ... of dinosaurs ended between 65.5 and 66 million years ago. ... Larry Heaman from the Department of Earth and Atmospheric Sciences, ... 64.8 million years old. That means this particular plant eater ...
... Visionaries in the field of cardiac therapeutics have long looked ... or repaired by using one,s own heart cells. A study ... scientific journal of the American Heart Association, shows that heart ... to rebuild the damaged heart in the laboratory. ...
Cached Biology News:Notre Dame biologists call for regulation of rare plant sales 2Test shows dinosaurs survived mass extinction by 700,000 years 2Stem cells show promise in repairing a child's heart 2
(Date:8/26/2015)... , ... August 26, 2015 , ... ... announces today that a second US laboratory is to open in Manhattan, Kansas ... the continued partnership and long-term growth of research and development through collaboration with ...
(Date:8/26/2015)... (PRWEB) , ... August 26, 2015 , ... ... is increasing its investment in the development and manufacture of highly valued cardiac ... The company’s scientific team's extensive expertise with protein chemistry has led to the ...
(Date:8/26/2015)... 26, 2015 Intrexon Corporation (NYSE: XON ... closing of its previously announced public offering of common ... of their option to purchase an additional 731,707 shares ... $41.00 per share.  The exercise of the underwriters, option ... sold by Intrexon to 5,609,756 shares and increased the ...
(Date:8/26/2015)... , August 26, 2015 After litigating ... Europlasma NV relating to P2i United States ... their dispute in the United States ... the part of either party. As a result of the ... of California dismissed the case without ...
Breaking Biology Technology:MediVet Biologics Animal Health Secures Additional Laboratory Facility in Manhattan, Kansas 2MediVet Biologics Animal Health Secures Additional Laboratory Facility in Manhattan, Kansas 3Lee Biosolutions Announces Increased Investment in the Development and Manufacturing of Biomarkers Used in Early Detection Of Heart Disease 2Intrexon Announces Closing of $230 Million Public Offering of Common Stock including Full Exercise of Underwriters' Option to Purchase Additional Shares 2Intrexon Announces Closing of $230 Million Public Offering of Common Stock including Full Exercise of Underwriters' Option to Purchase Additional Shares 3Intrexon Announces Closing of $230 Million Public Offering of Common Stock including Full Exercise of Underwriters' Option to Purchase Additional Shares 4P2i Settles United States Litigation 2
... Sangamo BioSciences, Inc. (Nasdaq: SGMO ) today announced ... year 2011 financial results on Wednesday, February 8, 2012, after ... a conference call at 5:00 p.m. ET, which will be ... conference call, the company will review the financial results and ...
... 1, 2012  Generex Biotechnology Corporation (OTCBB: GNBT.OB) announced ... Inc., has been awarded a Japanese Patent centering ... immunotherapeutic vaccines.  A number of products developed with ... patent helps to secure the novel Antigen Express ...
... The report " Biomarkers Market (Discovery ... & Forecasts (2011   -   2020) " , ... drivers, restraints, and opportunities in North America, Europe, Asia, and ... data tables and in-depth TOC on the   ...
Cached Biology Technology:Sangamo BioSciences Announces Fourth Quarter and Full Year 2011 Conference Call and Webcast 2Generex Announces Patent Award for its Core Vaccine Technologies in Japan 2Generex Announces Patent Award for its Core Vaccine Technologies in Japan 3Generex Announces Patent Award for its Core Vaccine Technologies in Japan 4MarketsandMarkets: Global Biomarkers Market worth $25.79 Billion by 2016 2MarketsandMarkets: Global Biomarkers Market worth $25.79 Billion by 2016 3
... Thermostable dUTPase The thermostable ... high-fidelity PCR (using proofreading DNA polymerases). ... in PCR reactions and dNTP solutions. ... a proofreading DNA polymerase reaction can ...
... AVOID FREEZE/THAW CYCLES. An assay kit ... by Western blotting. PARP is an enzyme ... During apoptosis, PARP is cleaved by caspase-3. ... kDa to 85 kDa is a hallmark ...
... dispensers save space and organize ... and other garb. They are ... for small parts used in ... acrylic. Many other sizes and ...
... These handy dispensers save space ... wipers, hats, and other garb. ... storage bins for small parts ... manufacturing. Clear acrylic. Open-slot design ...
Biology Products: