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:9/2/2014)... through a U.S. suburb , Observations and mapping ... the hours and days after the August 24 earthquake ... earthquake caused so much damage in the region, according ... by the American Geophysical Union. , ... Places to Direct Our Curiosity , Selecting where ...
(Date:9/2/2014)... Human Genetics (ASHG) and the National Human Genome ... of Health, have named Katherine D. Blizinsky, PhD, ... newest ASHG/NHGRI Genetics and Public Policy Fellow. The ... Public Policy Fellowship is intended to help early-career ... research policy at a national level. Fellows in ...
(Date:9/2/2014)... team of University of Maryland physicists has published ... say make possible new nanostructures and nanotechnologies with ... quantum computing advances to new sensor development. , ... Nature Communications the Maryland scientists, primary discovery ... nanostructures that uses a connector, or "intermedium," nanoparticle ...
Breaking Biology News(10 mins):This week From AGU: California earthquake, future Mars rovers, models underestimate ozone 2ASHG and NHGRI award genetics and public policy fellowship 2New synthesis method may shape future of nanostructures, clean energy 2New synthesis method may shape future of nanostructures, clean energy 3
... June, 2010) SAGE, the world,s fifth leading independent ... the Bulletin of the Atomic Scientists from September ... other experts who had created the atomic bomb as part ... threats to the survival and development of humanity from nuclear ...
... research led by the University of Leicester and published in ... first time the mechanism by which memories are formed. ... found one of the key proteins involved in the process ... to impact drug design to treat Alzheimer,s disease. The ...
... the hon-shimeji mushroom is a delicacy costing up to SEK 8,000 ... of Gothenburg, Sweden, has discovered that this tasty fungus also grows ... of interest in Sweden, and definitely in Japan once these discoveries ... Lyophyllum is a family of many different species ...
Cached Biology News:SAGE to publish the Bulletin of the Atomic Scientists 2Memories are made of this 2Japanese gourmet mushroom found in Sweden 2Japanese gourmet mushroom found in Sweden 3
(Date:9/2/2014)... PA (PRWEB) September 02, 2014 ... a new highly efficient, cost effective approach to ... Patent No. 8,820,265 by the U.S. Patent and ... to Opertech. , “Opertech’s taste evaluation ... the first automated high throughput system for rapid ...
(Date:9/2/2014)... Calif. , Sept. 2, 2014  Xencor, ... biopharmaceutical company developing engineered monoclonal antibodies for the ... and cancer, today announced the appointment of ... development and the appointment of Lloyd Rowland ... general counsel. "Debra,s expertise in ...
(Date:9/2/2014)... , Sept. 2, 2014  Synthetic Biologics, Inc. ... biologic and drug candidates targeting specific pathogens that ... results from its final preclinical toxicology study of ... guidance, this bridging study was required to move ... to prevent the devastating effects of Clostridium ...
(Date:9/2/2014)... Mount, NC (PRWEB) September 02, 2014 ... establishment of its 11th clinical research site: PMG Research ... assumed ownership and operation of the clinical research department ... further expanding PMG’s presence in eastern North Carolina. This ... patients. For the patients in Rocky Mount and the ...
Breaking Biology Technology:Opertech Bio Receives U.S. Patent for High-Throughput Taste Evaluation Technology 2Xencor Appoints Debra Zack, M.D., Ph.D., Vice President, Clinical Development and Lloyd Rowland, Senior Vice President, Chief Compliance Officer and General Counsel 2Xencor Appoints Debra Zack, M.D., Ph.D., Vice President, Clinical Development and Lloyd Rowland, Senior Vice President, Chief Compliance Officer and General Counsel 3Synthetic Biologics to Initiate Clinical Trials of SYN-004 in 4Q 2014 to Prevent Potentially Deadly C. difficile Infections 2Synthetic Biologics to Initiate Clinical Trials of SYN-004 in 4Q 2014 to Prevent Potentially Deadly C. difficile Infections 3Synthetic Biologics to Initiate Clinical Trials of SYN-004 in 4Q 2014 to Prevent Potentially Deadly C. difficile Infections 4Synthetic Biologics to Initiate Clinical Trials of SYN-004 in 4Q 2014 to Prevent Potentially Deadly C. difficile Infections 5PMG Research Announces the Formation of its Eleventh Site 2PMG Research Announces the Formation of its Eleventh Site 3
... German . , They have been used as ... they are making rapid inroads in high performance applications: CMOS ... and digital cameras. The automotive industry, for instance, has discovered ... them in driver assistance systems from parking aids and ...
... Palatin Technologies, Inc. (NYSE Amex: PTN ) today announced ... of its common stock and warrants to purchase common stock in ... and there can be no assurance as to whether or when ... or terms of the offering. Roth Capital Partners is ...
... 23, 2011 Scarguard Labs, LLC, a closely held ... other dermatological problems through the use of multi-technology drugs ... that they have received approval from Health Canada to ... "We are very pleased to gain approval for ...
Cached Biology Technology:UV-transparent coating for image sensors 2Palatin Technologies, Inc. Announces Proposed Public Offering of Common Stock and Warrants 2Palatin Technologies, Inc. Announces Proposed Public Offering of Common Stock and Warrants 3
11-keto Testosterone EIA Antiserum hormones steroids antisera antiserum eias enzyme immunoassays reagents 11-keto-testosterone...
... (phospho S207) ( Abpromise for ... Antigen: Synthetic phosphopeptide derived from ... of Serine 207 (V-D-S P -V-A). ... 5608 Swiss ...
Anti-human L-Ficolin, Clone GN4, Monoclonal Antibody...
14-3-3 tau Antibody Shipping Temperature: HOT Storage Temperature: -20C...
Biology Products: