Featured Research

from universities, journals, and other organizations

Genetic sequencing breakthrough to aid treatment for congenital hyperinsulinism

Date:
December 27, 2012
Source:
University of Exeter
Summary:
Congenital hyperinsulinism is a genetic condition where a baby's pancreas secretes too much insulin. It affects approximately one in 50,000 live births and in severe cases requires the surgical removal of all or part of the pancreas. Researchers are now utilizing new genetic sequencing technology to sequence the entirety of a gene in order to identify mutations that cause hyperinsulinism.

Congenital hyperinsulinism is a genetic condition where a baby's pancreas secretes too much insulin. It affects approximately one in 50,000 live births and in severe cases requires the surgical removal of all or part of the pancreas.

Related Articles


Researchers at the University of Exeter Medical School are the first in the world to utilise new genetic sequencing technology to sequence the entirety of a gene in order to identify mutations that cause hyperinsulinism. Previously, existing technology limited such sequencing to only part of the coding regions of the gene which meant that some mutations were missed.

Using new Illumina genetic sequencing technology, the research team led by Professor Sian Ellard has discovered novel mutations that cause hyperinsulinism. Their findings are published December 27 2012, on-line by The American Journal of Human Genetics.

The outcome will be that some infants born with hyperinsulinism will require fewer investigations, because the new technology means that for many only one genetic test will be required to determine the extent of the condition in each child. It also means that clinicians will have more information at their fingertips to inform them about how much of the pancreas needs to be removed.

Approximately 50 per cent of patients with congenital hyperinsulinism require surgery, and of those half require the entire pancreas to be removed. Removal of the entire pancreas increases the risk of diabetes later in life, but if left undiagnosed and untreated hyperinsulinism can result in irreparable brain damage. Symptoms range from shakiness and tiredness to seizure and coma.

Dr. Sarah Flanagan, Research Fellow in Molecular Genetics at the University of Exeter Medical School said: "The potential provided by this new technology is important and exciting, because it allows us to investigate genetic coding in its entirety. This means that investigators can identify mutations that sit at the heart of any number of conditions where before they might have been missed. This in turn results in better information for clinicians upon which they can base effective treatments and interventions for their patients."


Story Source:

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


Journal Reference:

  1. SarahE. Flanagan, Weijia Xie, Richard Caswell, Annet Damhuis, Christine Vianey-Saban, Teoman Akcay, Feyza Darendeliler, Firdevs Bas, Ayla Guven, Zeynep Siklar, Gonul Ocal, Merih Berberoglu, Nuala Murphy, Maureen O’Sullivan, Andrew Green, PeterE. Clayton, Indraneel Banerjee, PeterT. Clayton, Khalid Hussain, MichaelN. Weedon, Sian Ellard. Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation. The American Journal of Human Genetics, 2012; DOI: 10.1016/j.ajhg.2012.11.017

Cite This Page:

University of Exeter. "Genetic sequencing breakthrough to aid treatment for congenital hyperinsulinism." ScienceDaily. ScienceDaily, 27 December 2012. <www.sciencedaily.com/releases/2012/12/121227130325.htm>.
University of Exeter. (2012, December 27). Genetic sequencing breakthrough to aid treatment for congenital hyperinsulinism. ScienceDaily. Retrieved January 31, 2015 from www.sciencedaily.com/releases/2012/12/121227130325.htm
University of Exeter. "Genetic sequencing breakthrough to aid treatment for congenital hyperinsulinism." ScienceDaily. www.sciencedaily.com/releases/2012/12/121227130325.htm (accessed January 31, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, January 31, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

CDC: Get Vaccinated for Measles

CDC: Get Vaccinated for Measles

Reuters - US Online Video (Jan. 30, 2015) The CDC is urging people to get vaccinated for measles amid an outbreak that began at Disneyland and has now infected more than 90 people. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Obama To Outline New Plan For Personalized Medicine

Obama To Outline New Plan For Personalized Medicine

Newsy (Jan. 30, 2015) President Obama is expected to speak with drugmakers Friday about his Precision Medicine Initiative first introduced last week. Video provided by Newsy
Powered by NewsLook.com
NFL Concussions Down; Still on Parents' Minds

NFL Concussions Down; Still on Parents' Minds

AP (Jan. 30, 2015) The NFL announced this week that the number of game concussions dropped by a quarter over last season. Still, the dangers of the sport still weigh on players, and parents&apos; minds. (Jan. 30) Video provided by AP
Powered by NewsLook.com
U.S. Wants to Analyze DNA from 1 Million People

U.S. Wants to Analyze DNA from 1 Million People

Reuters - US Online Video (Jan. 30, 2015) The U.S. has proposed analyzing genetic information from more than 1 million American volunteers to learn how genetic variants affect health and disease. Rough Cut (no reporter narration). 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:

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