Navigation Links
New gene discovery could help to prevent blindness
Date:2/11/2010

Scientists have uncovered a new gene that could help save the sight of patients with a type of inherited blindness.

The international research team led by the University of Leeds found that the TSPAN12 gene is faulty in patients with a disease known as FEVR (Familial Exudative Vitreoretinopathy), which affects the development of the eye.

While many FEVR patients are registered blind or visually impaired, members of the same family may carry the faulty gene without showing any symptoms. It is hoped that by screening these family members for TSPAN12 mutations, doctors may be able to catch FEVR early on and treat patients before they start to lose their sight. It will also broaden their understanding of other more common blinding disorders.

Dr Carmel Toomes, of the Leeds Institute of Molecular Medicine who led the research, said: "This discovery will have an immediate impact on the treatment and counselling of some FEVR patients by allowing us to identify family members who carry the mutated gene before any retinal damage has occurred. This decreases their chances of going blind because if a patient is diagnosed early enough their sight can often be saved by surgical intervention."

TSPAN12 is thought to cause FEVR by disrupting the cell signals required for the normal development of blood vessels in the retina at the back of the eye.

This study, which was funded by The Royal Society and the Wellcome Trust, looked at 70 FEVR patients who had tested negative for the three genes already known to cause the disease. Mutations in the TSPAN12 gene, which is located on chromosome 7, were found in 10% of these patients.

As well as being an important piece in the FEVR puzzle, this latest discovery will help scientists to understand other blinding disorders including age-related macular degeneration and diabetic retinopathy - two of the leading causes of blindness in the developed world.

"Our research highlights how studying rare inherited disorders such as FEVR can help us identify the genes and pathways involved in the basic cellular processes underlying more common diseases," Dr Toomes added.

"We hope that by learning more about blood vessel formation in FEVR we will gain clues that may lead to new treatments for these conditions."

The research will be published in the American Journal of Human Genetics on 12th February.


'/>"/>

Contact: Hannah Isom
h.isom@leeds.ac.uk
44-011-334-34031
University of Leeds
Source:Eurekalert

Related biology news :

1. First discovery of the female sex hormone progesterone in a plant
2. Enlisting a drug discovery technique in the battle against global warming
3. TGen becomes center of excellence for Horizon Discoverys GENESIS and X-MAN technology
4. Gene function discovery: Guilt by association
5. Discovery of algaes toxic hunting habits could help curb fish kills
6. From biological basics to diabetes discovery
7. Game-changing nanodiamond discovery for MRI
8. Discovery points toward anti-inflammation treatment for blinding disease
9. Discovery at JGH opens door to new treatments for prostate, brain and skin cancers
10. Discovery of a new molecular mechanism that guides visual nerves towards the brain
11. New discovery by Harvard scientists aims to correct cellular defects leading to diabetes
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/20/2016)... , May 20, 2016  VoiceIt is ... partnership with VoicePass. By working together, ... experience.  Because VoiceIt and VoicePass take slightly different ... engines increases both security and usability. ... excitement about this new partnership. "This ...
(Date:4/28/2016)... BANGALORE, India , April 28, 2016 ... subsidiary of Infosys (NYSE: INFY ), and Samsung ... global partnership that will provide end customers with a ... and payment services.      (Logo: http://photos.prnewswire.com/prnh/20130122/589162 ... for financial services, but it also plays a fundamental part ...
(Date:4/15/2016)... CHICAGO , April 15, 2016  A ... companies make more accurate underwriting decisions in a ... offering timely, competitively priced and high-value life insurance ... health screenings. With Force Diagnostics, rapid ... and lifestyle data readings (blood pressure, weight, pulse, ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... ... 23, 2016 , ... ClinCapture, the only free validated electronic ... showcase its product’s latest features from June 26 to June 30, 2016 for ... Disrupting Clinical Trials in The Cloud during the conference. DIA (Drug Information ...
(Date:6/23/2016)... ... June 23, 2016 , ... ... line of intelligent tools designed, tuned and optimized exclusively for Okuma CNC machining ... Chicago. The result of a collaboration among several companies with expertise in toolholding, ...
(Date:6/23/2016)... June 23, 2016 ReportsnReports.com ... report to its pharmaceuticals section with historic and ... and much more. Complete report on ... pages, profiling 15 companies and supported with 261 ... http://www.reportsnreports.com/reports/601420-global-cell-culture-media-industry-2016-market-research-report.html . The Global Cell ...
(Date:6/22/2016)... Research and Markets has announced the addition ... their offering. The global ... billion in 2013. The market is expected to grow at a ... 2020, increasing from $50.6 billion in 2015 to $96.6 billion in ... forecast period (2015 to 2020) are discussed. As well, new products ...
Breaking Biology Technology: