Featured Research

from universities, journals, and other organizations

Scan Of Turkish Infant's Genome Yields A Surprise Diagnosis

Date:
October 19, 2009
Source:
Yale University
Summary:
In a dramatic illustration of the power of emerging genetic technologies, researchers have reported making a clinical diagnosis for the first time using comprehensive DNA sequencing of all the protein-coding genes in the genome. The information changed the course of treatment of a baby boy suffering from symptoms of dehydration thousands of miles away in Turkey.

In a dramatic illustration of the power of emerging genetic technologies, Yale University researchers have reported making a clinical diagnosis for the first time using comprehensive DNA sequencing of all the protein-coding genes in the genome. The information changed the course of treatment of a baby boy suffering from symptoms of dehydration thousands of miles away in Turkey.

The new approach to DNA sequencing used by Yale researchers and described online Oct. 19 in the Proceedings of the National Academy of Sciences is called whole exome sequencing because it selectively analyzes the 1 percent of the genome that contains genes that code for proteins. This approach has the potential to lead to dramatic new insights into almost every human disease and, as cost of the technology decreases, will be commonly used in clinical settings, predicted Richard Lifton, senior author of the paper and Sterling Professor and chair in the Department of Genetics and professor of internal medicine.

"We believe this heralds the dawn of a new era in genetics and personalized medicine," said Lifton, an investigator for the Howard Hughes Medical Institute.

The new approach is a marriage of advanced DNA sequencing technology and microarray protocols that can selectively sequence protein-coding regions of the genomes. The paper shows the methodology can identify genetic mutations with great precision at a cost 10 to 20 times less than sequencing the entire genome with its 3 billion "letters." Because the vast majority of mutations with large clinical effects lie in these protein-coding regions, this promises to be an efficient strategy for discovering disease-related genes, Lifton said.

The Yale team — which included Murim Choi, a postdoctoral fellow, and Shrikant Mane, director of Yale Center for Genome Analysis at the new Yale West Campus —combined whole exome arrays to purify the protein coding genes and the latest high-throughput DNA sequencing to identify sequence changes in protein coding genes.

At the request of a Turkish doctor, they used technology to conduct a genetic investigation of a five-month old Turkish baby boy thought to suffer from Bartter syndrome, a rare, life-threatening disease caused by mutations in renal transporters that cause loss of salt, potassium and water from the kidney. Instead, the Yale analysis of 34 million base pairs in this boy's genome led to the discovery of a mutation in both copies of the gene known to cause congenital chloride diarrhea, a rare birth disorder in which the gastrointestinal tract fails to properly absorb chloride and water. The investigators went on to show that five additional patients previously referred for evaluation of Bartter syndrome also had mutations in the congenital chloride diarrhea gene,

"There have been questions about whether one would be able to accurately, comprehensively and quickly identify mutations in the genome using these approaches, and moreover whether one would then be able to make clinical sense of the resulting data. In this first case, we have demonstrated the utility of this technology, underscoring the potential for its broad use in the clinic," Lifton said. "As the cost of DNA sequencing continues to plummet, it seems clear that this technology will be useful for clinical diagnosis in a number of settings."

Lifton envisioned use of this technology in research for discovery of new genes contributing to both common and rare diseases, as well as application in the clinic to diseases ranging from autism to diabetes. "The ability to use comprehensive genetic diagnosis to clarify disease causation and to tailor treatment to the specific causes of disease in individual patients holds great potential to improve health," he said.


Story Source:

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


Cite This Page:

Yale University. "Scan Of Turkish Infant's Genome Yields A Surprise Diagnosis." ScienceDaily. ScienceDaily, 19 October 2009. <www.sciencedaily.com/releases/2009/10/091019162923.htm>.
Yale University. (2009, October 19). Scan Of Turkish Infant's Genome Yields A Surprise Diagnosis. ScienceDaily. Retrieved July 31, 2014 from www.sciencedaily.com/releases/2009/10/091019162923.htm
Yale University. "Scan Of Turkish Infant's Genome Yields A Surprise Diagnosis." ScienceDaily. www.sciencedaily.com/releases/2009/10/091019162923.htm (accessed July 31, 2014).

Share This




More Health & Medicine News

Thursday, July 31, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

House Republicans Vote to Sue Obama Over Healthcare Law

House Republicans Vote to Sue Obama Over Healthcare Law

Reuters - US Online Video (July 31, 2014) The Republican-led House of Representatives votes to sue President Obama, accusing him of overstepping his executive authority in making changes to the Affordable Care Act. Mana Rabiee reports. Video provided by Reuters
Powered by NewsLook.com
Despite Health Questions, E-Cigs Are Beneficial: Study

Despite Health Questions, E-Cigs Are Beneficial: Study

Newsy (July 31, 2014) Citing 81 previous studies, new research out of London suggests the benefits of smoking e-cigarettes instead of regular ones outweighs the risks. Video provided by Newsy
Powered by NewsLook.com
Dangerous Bacteria Kills One in Florida

Dangerous Bacteria Kills One in Florida

AP (July 31, 2014) Sarasota County, Florida health officials have issued a warning against eating raw oysters and exposing open wounds to coastal and inland waters after a dangerous bacteria killed one person and made another sick. (July 31) Video provided by AP
Powered by NewsLook.com
Health Insurers' Profits Slide

Health Insurers' Profits Slide

Reuters - Business Video Online (July 30, 2014) Obamacare-related costs were said to be behind the profit plunge at Wellpoint and Humana, but Wellpoint sees the new exchanges boosting its earnings for the full year. Fred Katayama reports. Video provided by Reuters
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