Featured Research

from universities, journals, and other organizations

Northwestern Programs Aims At Revealing Genetic Causes Of Spina Bifida

Date:
October 25, 2000
Source:
Northwestern University
Summary:
Johnny was born with spina bifida, a common birth defect that deforms the spinal cord and which researchers believe may be linked to mutations in certain genes. Spina bifida affects about four of every 1,000 children born. To assist in the search for these aberrant genes, Johnny and his parents and families like them contributed DNA samples to the Spina Bifida Genetic Research Project at Northwestern.

CHICAGO --- Johnny Doe (not his real name) is a little boy who is helping unravel a mystery for scientists at Northwestern University Medical School and Duke University.

Related Articles


Johnny was born with spina bifida, a common birth defect that deforms the spinal cord and which researchers believe may be linked to mutations in certain genes. Spina bifida affects about four of every 1,000 children born.

To assist in the search for these aberrant genes, Johnny and his parents and families like them contributed DNA samples to the Spina Bifida Genetic Research Project at Northwestern.

Program researchers are analyzing DNA samples from the Does and other families whose children have spina bifida to determine which genetic traits are found more often in these families and how these genes interact with each other and the environment. They also are conducting experiments to identify genes that may increase risk for spina bifida.

Jeffrey S. Nye, M.D., directs the program and is principal investigator on three National Institutes of Health-sponsored studies to determine the genetic basis of spina bifida. Nye, who also has a Ph.D., is an assistant professor of molecular pharmacology and biological chemistry and of pediatrics at the Medical School and at Children’s Memorial Hospital.

Numerous studies have implicated certain drugs, nutritional status (such as folic acid deficiency) and genetic factors in the development of spina bifida, yet scientists are still uncertain as to its actual cause.

Nye, with Northwestern co-investigators David G. McLone, M.D., Joel Charrow, M.D., John F. Sarwark, M.D., and Marcy Speer, Duke University, identified a number of common traits among families who have a child with spina bifida, such as deafness, areas of the hair and skin that lack pigmentation, early graying of the hair and deformities of the face and hands.

"For decades, researchers have known about the increased risk to families for having a second or third child with spina bifida. However, genetic factors that predispose to spina bifida have still not been identified," Nye said.

"Identifying these risk factors will give prospective parents the power to predict their likelihood of having a child with this devastating condition," he said.

Spina bifida occurs during fetal development and results from improper closure of the neural tube, the embryonic structure from which the brain and spinal cord are formed. In the severe forms of spina bifida, part of the spinal cord is left uncovered by the skin and bone or actually protrudes from the spinal column. More severe forms of neural tube defect are often fatal for the developing fetus or newborn.

Children with spina bifida usually have limited or absent bladder and bowel functions and frequently have paralyzed legs. Fortunately, the lethal complications of spina bifida, such as infection and hydrocephalus or build-up of pressured fluid in the brain, can be treated with surgery early in a child’s life.

David G. McLone is a professor of neurological surgery, a physician at Children’s Memorial Hospital and a researcher at the Children’s Memorial Institute for Education and Research. Joel Charrow is an associate professor of pediatrics and a researcher at the Children’s Memorial Institute for Education and Research. John F. Sarwark is an associate professor of orthopedic surgery at the Medical School and a physician at Children’s Memorial Hospital. Marcy Speer is a basic scientist at Duke University Medical Center.


Story Source:

The above story is based on materials provided by Northwestern University. Note: Materials may be edited for content and length.


Cite This Page:

Northwestern University. "Northwestern Programs Aims At Revealing Genetic Causes Of Spina Bifida." ScienceDaily. ScienceDaily, 25 October 2000. <www.sciencedaily.com/releases/2000/10/001023204122.htm>.
Northwestern University. (2000, October 25). Northwestern Programs Aims At Revealing Genetic Causes Of Spina Bifida. ScienceDaily. Retrieved January 28, 2015 from www.sciencedaily.com/releases/2000/10/001023204122.htm
Northwestern University. "Northwestern Programs Aims At Revealing Genetic Causes Of Spina Bifida." ScienceDaily. www.sciencedaily.com/releases/2000/10/001023204122.htm (accessed January 28, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Wednesday, January 28, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Malnutrition on the Rise as Violence Flares in C. Africa

Malnutrition on the Rise as Violence Flares in C. Africa

AFP (Jan. 28, 2015) Violence can flare up at any moment in Bambari with only a bridge separating Muslims and Christians. Malnutrition is on the rise and lack of water means simple cooking fires threaten to destroy makeshift camps where people are living. Duration: 00:40 Video provided by AFP
Powered by NewsLook.com
Poultry Culled in Taiwan to Thwart Bird Flu

Poultry Culled in Taiwan to Thwart Bird Flu

Reuters - News Video Online (Jan. 28, 2015) Taiwan culls over a million poultry in efforts to halt various strains of avian flu. Julie Noce reports. Video provided by Reuters
Powered by NewsLook.com
Media Criticizing Parents For Not Vaccinating Children

Media Criticizing Parents For Not Vaccinating Children

Newsy (Jan. 28, 2015) As the Disneyland measles outbreak continues to spread, the media says parents who choose not to vaccinate their children are part of the cause. Video provided by Newsy
Powered by NewsLook.com
Shark Bite Victim Making Amazing Recovery

Shark Bite Victim Making Amazing Recovery

AP (Jan. 27, 2015) A Texas woman who lost more than five pounds of flesh to a shark in the Bahamas earlier this month could be released from a Florida hospital soon. Experts believe she was bitten by a bull shark while snorkeling. (Jan. 27) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins