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 s
'/>"/>

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

Page: 1 2

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:10/18/2014)... 2,000 patients referred for evaluation of suspected genetic ... for 25 percent, including detection of a number ... to disease, according to a study appearing in ... to coincide with the American Society of Human ... exons or coding regions of thousands of genes ...
(Date:10/17/2014)... release is available in German . ... a very few drugs. When treating overdoses, doctors are often ... especially difficult if there is a combination of drugs involved. ... and accidentally swallows his grandmother,s pills? ETH professor Jean-Christophe Leroux ... to find an answer to this question. "The task was ...
(Date:10/16/2014)... are anything but sustainable: environmental damage to soil ... increasingly evident. Despite their disadvantages, however, monocultures remain ... the sole possibility of achieving higher yields in ... an ecology professor at the University of Zurich, ... forestry. After all, a new study carried out ...
Breaking Biology News(10 mins):Whole-exome sequencing shows potential as diagnostic tool 2Emergency aid for overdoses 2Emergency aid for overdoses 3Plant communities produce greater yield than monocultures 2Plant communities produce greater yield than monocultures 3
... NEWTOWN SQUARE, Pennsylvania, September 27, 2011 An ... U.S. Forest Service,s Forest Inventory and Analysis (FIA) program ... eastern United States is increasing despite infestations of hemlock ... The information comes from an e-Science Update co-authored by ...
... ROUGE A research team led by LSU Associate Professors ... the results of a combined field and laboratory study showing ... living in Louisiana marshes. , The study, funded ... the Gulf of Mexico Research Initiative is being published in ...
... ... Presidential Early Career Award for Scientists and Engineers (PECASE). The award ... scientists and engineers in the early stages of their careers. ... significant award," said Jane Lubchenco, Ph.D., under secretary of commerce for ...
Cached Biology News:US Forest Service study finds hemlock still abundant despite adelgid infestation 2LSU researchers find impact of oil spill in marsh fish species 2President to honor high achieving, early career NOAA scientists 2
(Date:10/20/2014)... PARK, Calif. , Oct. 20, 2014 /PRNewswire/ ... today that the Company has signed a Notice ... of Regenerative Medicine (CIRM), effective October 1, 2014.  ... Clinical Development payments and the release of additional ... million CIRM grant award for clinical development of ...
(Date:10/20/2014)... , Oct. 20, 2014 PureTech ... company tackling big healthcare problems, announced today the ... round, with participation from Invesco Perpetual, a $120 ... used to drive PureTech,s existing pipeline forward and ... "PureTech has the scientific creativity to really go ...
(Date:10/19/2014)... 19, 2014 The Latin American hardware ... in Latin America with analysis and forecast of revenue. ... and is expected to reach $2,366.8 million by 2018, ... , Browse through the TOC of the Latin American ... the in-depth analysis provided. It also provides a glimpse ...
(Date:10/19/2014)... The Asian Automatic patient billing report defines and ... of revenue. The Automatic patient billing market in Asia ... 2018, at a developing CAGR of 7.2% from 2013 ... Asian Automatic patient billing market, to get an idea ... glimpse of the segmentation of this market in the ...
Breaking Biology Technology:Asterias Biotherapeutics Announces Notice of Grant Award with CIRM for Phase 1/2a Clinical Trial of AST-OPC1 in Complete Cervical Spinal Cord Injury 2Asterias Biotherapeutics Announces Notice of Grant Award with CIRM for Phase 1/2a Clinical Trial of AST-OPC1 in Complete Cervical Spinal Cord Injury 3Asterias Biotherapeutics Announces Notice of Grant Award with CIRM for Phase 1/2a Clinical Trial of AST-OPC1 in Complete Cervical Spinal Cord Injury 4PureTech Announces Expansion with Oversubscribed $55M Funding Round 2PureTech Announces Expansion with Oversubscribed $55M Funding Round 3PureTech Announces Expansion with Oversubscribed $55M Funding Round 4PureTech Announces Expansion with Oversubscribed $55M Funding Round 5PureTech Announces Expansion with Oversubscribed $55M Funding Round 6The Latin American hardware encryption display market is expected to reach $2,366.8 million by 2018 - New Report by MicroMarket Monitor 2The Latin American hardware encryption display market is expected to reach $2,366.8 million by 2018 - New Report by MicroMarket Monitor 3The Asian Automatic patient billing market is estimated to grow to around $463.9 million by 2018 - New Report by MicroMarket Monitor 2The Asian Automatic patient billing market is estimated to grow to around $463.9 million by 2018 - New Report by MicroMarket Monitor 3
... YORK, Aug. 24 The DNA sequencing equipment ... and 2012, spiraling upward from,$335 million to $528 ... Sequencing Equipment and Service Markets, a new report ... been relatively stable for the last,several years, with ...
... Conference Call Originally Scheduled for 9:00 a.m. Eastern Time ... Be Rescheduled After Private Placement Closes -, FREMONT, ... (Nasdaq: CIPH ), today announced that it,has entered ... with a group of existing and new investors. Under ...
... DIEGO, Aug. 23 eBioscience Corporation announced,the appointment ... eBioscience, effective,immediately. Dr. Nelson comes to eBioscience from ... Development. Dr. Nelson will assume the role ... as President during a transition period. Nelson will,also ...
Cached Biology Technology:DNA Sequencing Equipment Market to Fragment and Grow as Competition, New Technologies Develop 2Vermillion (Formerly Ciphergen) Announces $20.5 Million Private Placement of Common Stock 2Vermillion (Formerly Ciphergen) Announces $20.5 Million Private Placement of Common Stock 3Todd R. Nelson Named Chief Executive Officer of eBioscience, Inc. 2
Request Info...
... Cell Expansion Kit - Neurosphere is a system ... cell expansion as neurospheres in a serum free ... Plus Media Supplement, which has been optimized for ... al . (1996) Genes & Development 10 ...
... Source: Calf thymus Description: Topoisomerase I ... a transient breakage and rejoining of phosphodiester bonds ... allows molecules to be differentiated by a single ... I is active in the absence of Mn ...
... Topo I, Wild Type ... 1 mM DTT, 200 µM EDTA, 20% glycerol, ... I (Topo I) is a monomeric protein of ... It catalyzes the relaxation of both positive and ...
Biology Products: