Featured Research

from universities, journals, and other organizations

DNA sequencing of infants and children with anatomical defects of unknown causes

Date:
November 6, 2012
Source:
American Society of Human Genetics
Summary:
A one-year-old research initiative has brought together researchers, clinicians and policy experts to tackle the challenges of incorporating new genomic technologies into the clinical care of newborns, infants and children with anatomical defects whose causes are unknown.

A presentation at the American Society of Human Genetics 2012 meeting updated genetics experts about a one-year-old research initiative that brought together researchers, clinicians and policy experts to tackle the challenges of incorporating new genomic technologies into clinical care of newborns, infants and children with anatomical defects whose causes are unknown.

Among the challenges is interpreting how variations in patients' DNA cause or contribute to their medical problems, said Duke University Assistant Professor of Pediatrics Erica E. Davis, Ph.D., who presented the update and is based in the Center for Human Disease Modeling in the university's medical center.

In 2011, the center founded the Duke Task Force for Neonatal Genomics to act as a nucleus for a group of physicians and scientists with the diverse skills sets needed to bridge genetics, genomics, cell biology, ethics and clinical investigation and to offer a "360 degree" view of challenging clinical pediatric cases, Dr. Davis said.

"Strikingly, preliminary analysis of the task force's first year of work has suggested definitive or strong candidate diagnoses in some 90% of the recruited cases," she noted.

During its first year, the task force screened over 150 newborns, infants and children, enrolled 20 patients and developed the capacity to enroll about 100 patients each year.

"Our patients come from the Duke fetal diagnostic center, the Duke intensive care nursery and various pediatric specialty clinics," she said.

In one child with severe epilepsy, the task force used sequencing of the protein-coding regions of the genome (about 2% of the entire human genome) to identify a broken gene that impairs the ability of sodium to move in and out of cells.

"We determined that the child's condition was caused by a new mutation in a gene named SCN2A," Dr. Davis said.

This approach was also used to help diagnose genetic disorders in babies with a variety of conditions including congenital muscle weakness, fluid in the brain and kidney cysts.

"The task force's goal is to create a model of how and when genetic sequencing should be a first-tier diagnostic tool to inform and guide clinical management and treatment of young children with unexplained congenital defects," she said.

"By sequencing the DNA of these children early in life, clinicians can make use of personalized genomic information that, in combination with all of the other tools doctors have at their disposal, can inform patient management and potentially improve outcomes.

"We have a large interdisciplinary team that includes researchers, clinicians and policy scholars. What binds us together are the shared goals of using new genetic technologies to improve the health of these patients and sharing as much information as we can with their families," Dr. Davis added.

Dr. Davis described the task force's interdisciplinary approach; how it recruits patients and produces and analyzes data; and how it keeps families and their physicians informed before, during and after DNA sequencing.

The latter, she said, includes "our evolving and inclusive approach to returning primary and secondary genomic findings to clinicians and family members."

Once DNA variants or mutations suspected to cause disease are identified by sequencing patients' DNA, the task force then attempts to determine what those variants actually do by measuring their effects in animal models, most notably zebra fish.

"We can't be completely certain that we have found 'the gene or genes' until we understand what a variant does in a living cell," she said.

The task force focuses on keeping participating families informed and engaged because, "by the time they enroll in our study, our patients and their parents have usually been on a long 'diagnostic odyssey' and have come up empty," Dr. Davis said.

"We want to do whatever we can to change that. We don't want to be one more source of frustration and disappointment to them. We can't offer any guarantees, but we want them to think of us as partners. We are fully invested in trying to find answers and make their lives and their children's lives better if we can," she added.


Story Source:

The above story is based on materials provided by American Society of Human Genetics. Note: Materials may be edited for content and length.


Cite This Page:

American Society of Human Genetics. "DNA sequencing of infants and children with anatomical defects of unknown causes." ScienceDaily. ScienceDaily, 6 November 2012. <www.sciencedaily.com/releases/2012/11/121106201126.htm>.
American Society of Human Genetics. (2012, November 6). DNA sequencing of infants and children with anatomical defects of unknown causes. ScienceDaily. Retrieved April 16, 2014 from www.sciencedaily.com/releases/2012/11/121106201126.htm
American Society of Human Genetics. "DNA sequencing of infants and children with anatomical defects of unknown causes." ScienceDaily. www.sciencedaily.com/releases/2012/11/121106201126.htm (accessed April 16, 2014).

Share This



More Health & Medicine News

Wednesday, April 16, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Could Even Casual Marijuana Use Alter Your Brain?

Could Even Casual Marijuana Use Alter Your Brain?

Newsy (Apr. 16, 2014) A new study conducted by researchers at Northwestern and Harvard suggests even casual marijuana use can alter your brain. Video provided by Newsy
Powered by NewsLook.com
Ebola Outbreak Now Linked To 121 Deaths

Ebola Outbreak Now Linked To 121 Deaths

Newsy (Apr. 15, 2014) The ebola virus outbreak in West Africa is now linked to 121 deaths. Health officials fear the virus will continue to spread in urban areas. Video provided by Newsy
Powered by NewsLook.com
Cognitive Function: Is It All Downhill From Age 24?

Cognitive Function: Is It All Downhill From Age 24?

Newsy (Apr. 15, 2014) A new study out of Canada says cognitive motor performance begins deteriorating around age 24. Video provided by Newsy
Powered by NewsLook.com
How Mt. Everest Helped Scientists Research Diabetes

How Mt. Everest Helped Scientists Research Diabetes

Newsy (Apr. 15, 2014) British researchers were able to use Mount Everest's low altitudes to study insulin resistance. They hope to find ways to treat diabetes. Video provided by Newsy
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:
from the past week

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