HOME >> BIOLOGY >> NEWS
Study: Genome-wide scanning unravels complex birth defect

Researchers from the McKusick-Nathans Institute for Genetic Medicine at Johns Hopkins have successfully used genome scanning technology to search through thousands of DNA bits, from every chromosome, to identify two genes that cause an inherited intestinal disorder by working together.

The work is believed to be the first published evidence that genome-wide scanning, using conventional genetic markers and so-called "gene chips," can, in one shot, reveal the underpinnings of diseases caused by multiple genes, say the researchers, whose report appears in the current advance online version of Nature Genetics.

Complex disorders probably result from genetic mutations that create only subtle changes in their proteins' functions. Individually, these changes don't cause symptoms, but in combination they could help explain the occurrence and variability of complex diseases, according to first author Minerva Carrasquillo, Ph.D.

Because of this subtlety, gene hunters have found it difficult to get a single "snapshot" of all the genes that may be involved in these diseases. In the last 10 years, it's been relatively easy only to find the genetic causes of single-gene diseases, such as cystic fibrosis, or one gene at a time for genetically complex diseases.

"In complex diseases like diabetes and heart disease, the genes involved are probably scattered throughout the genome, so you need to be able to look at the whole genome at once and process all that data," says Aravinda Chakravarti, Ph.D., director of the McKusick-Nathans Institute of Genetic Medicine. "Fortunately, the technology now exists to get this done."

Studying the inherited bowel disorder known as Hirschsprung disease, the Hopkins scientists began years ago by looking for single genes, but quickly realized that no one gene could explain the condition completely, says Carrasquillo, a postdoctoral fellow in the McKusick-Nathans Institute.

Already linked to mutations
'"/>

Contact: Joanna Downer
jdowner1@jhmi.edu
410-614-5105
Johns Hopkins Medical Institutions
26-Sep-2002


Page: 1 2 3

Related biology news :

1. Study: Emission of smog ingredients from trees is increasing rapidly
2. Study: A little help from friends makes wounds heal faster
3. Study: Mothers turn fearless when peptide level drops
4. Study: Artificial sweetener may disrupt bodys ability to count calories
5. Study: Mimicking viruses may provide new way to defeat them
6. Study: Stroke victims may retain continuous motion ability
7. Study: Adults maintain significant improvement in ADHD with long-term use of amphetamine
8. Study: Prenatal screening in Haiti region cut syphilis by 75 percent
9. Study: Isoflavone-enriched soy proteins fail to increase bone mineral density in young women
10. Study: Higher energy intake, obesity affects all age groups, not just youths
11. Study: Showering boosts concentrations of potentially hazardous trihalomethanes

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:10/13/2018)... SAN FRANCISCO (PRWEB) , ... October 12, 2018 ... ... addition of Steven Medwell, MD, board certified in colorectal surgery, to its Medical ... world, Dr. Medwell will bring to uBiome his deep expertise in the surgical ...
(Date:10/11/2018)... ... October 09, 2018 , ... ... and supports high-growth, high-impact life science and biotechnology companies, announced today that ... disease foundations to discuss their investment philosophies, explain their fund and deal ...
(Date:10/11/2018)... ... ... ODSC Europe 2018 - one of Open Data Science Conference , ... September 19-22. , As Europe’s largest applied data science conference, ODSC Europe featured ... Attendees were given key insights and hands-on training in deep learning, machine ...
Breaking Biology News(10 mins):
(Date:10/5/2018)... ... October 04, 2018 , ... Earthres Group, Inc., a multi-disciplinary ... company’s brand identity and better reflects its current breadth of markets and services. ... expertise and related support services to clients in seven market sectors, and currently ...
(Date:10/2/2018)... ... October 02, 2018 , ... Contamination is an ... and reproducibility of experimental data. Each lab must consider whether ethanol and antibiotics ... is sponsored by Eppendorf , attendees will learn how to recognize and ...
(Date:9/28/2018)... ... September 28, 2018 , ... ... tech innovators, engineers, and scientists from around the world, is excited to announce ... of San Marcos, as the winner of the LabRoots Summer 2018 Textbook Scholarship, ...
(Date:9/27/2018)... ... September 26, 2018 , ... Nvision Biomedical ... Pedicle Screw System today at the North American Spine Society (NASS) Annual Meeting, ... Nvision focus Pedicle Screw System, which received clearance from the U.S. Food and ...
Breaking Biology Technology:
Cached News: