Navigation Links
Genetic sequencing breakthrough to aid treatment for congenital hyperinsulinism
Date:12/27/2012

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 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 today, 27th December 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."


'/>"/>

Contact: Louise Vennells
pressoffice@exeter.ac.uk
University of Exeter
Source:Eurekalert

Related biology news :

1. 3 new genetic links to colorectal cancer
2. Gout study offers genetic insight into disease of kings
3. New findings in the search for genetic clues to insulin production
4. Researchers discover genetic basis for eczema, new avenue to therapies
5. Transplanted genetically-modified adipose cells offer potential therapy for liver diseases
6. Discovery may pave way to genetically enhanced biofuel crops
7. Game changing diagnostic & prognostic prostate cancer genetic tests revealed by Jefferson
8. USDA explores using novel genetic labs for faster detection of E. coli
9. Prickly holly reveals ability to adapt genetics to environmental change
10. Researchers identify new components of the epigenetic code for honey bee development
11. More than 3,000 epigenetic switches control daily liver cycles
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/11/2017)... NXT-ID, Inc. (NASDAQ:   NXTD ) ... appointment of independent Directors Mr. Robin D. Richards ... Directors, furthering the company,s corporate governance and expertise. ... Gino Pereira , Chief Executive ... their guidance and benefiting from their considerable expertise as we ...
(Date:4/5/2017)... KEY FINDINGS The global market for stem ... 25.76% during the forecast period of 2017-2025. The rise ... growth of the stem cell market. Download ... The global stem cell market is segmented on the ... cell market of the product is segmented into adult ...
(Date:3/30/2017)... , March 30, 2017 The research team ... for three-dimensional (3D) fingerprint identification by adopting ground breaking 3D fingerprint ... new realm of speed and accuracy for use in identification, crime ... affordable cost. ... A ...
Breaking Biology News(10 mins):
(Date:8/21/2017)... ... August 21, 2017 , ... Today Aether announced that ... funded by a Bill and Melinda Gates Foundation grant, to pursue a ... Melinda Gates Foundation, also known as the Gates Foundation, is said to be the ...
(Date:8/16/2017)... ... 16, 2017 , ... Tunnell Consulting announced today that four of ... Annual Meeting and Expo , to be held October 29 through November 1 in ... innovation to advance patient therapies.” , The ISPE Annual Meeting and Expo will feature ...
(Date:8/16/2017)... ... August 16, 2017 , ... We ... Drug Administration (FDA) inspection at our Dilworth, MN site. The inspection took place ... inspection was conducted as part of a routine Bioresearch Monitoring Program (BIMO) with ...
(Date:8/15/2017)... ... August 15, 2017 , ... ... that accelerate pharmaceutical and biotherapeutics development, announces the launch of the new ... needed to gain kinetic binding data for a wide range of molecules, including ...
Breaking Biology Technology: