Gene discovery may offer blindness cure
February 12th, 2010 - 11:00 am ICT by ANI ( Leave a comment )Washington, Feb 12 (ANI): Researchers have uncovered a new gene that could help save the sight of patients with a type of inherited blindness.
In the study, 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.
The boffins hope 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.
To reach the conclusion, experts 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 percent of these patients.
The study has been published in the American Journal of Human Genetics. (ANI)
- Blind man's sight restored after 55 years - Jun 18, 2011
- Neoretina offers advanced surgery - Jan 19, 2012
- Astonishing bionic enables blind to see - Nov 22, 2011
- Bionic eye can restore lost vision - Nov 03, 2010
- Scientists image tiny light-sensing cells in eye - Jun 09, 2011
- Stem cell therapy for age-related macular degeneration may soon be a reality - Mar 25, 2011
- Gene linked to spread of eye melanoma identified - Nov 05, 2010
- London hospital to do Europe's first embryonic stem cell trial - Sep 24, 2011
- Promising results of gene therapy to treat eye diseases - Aug 14, 2010
- Study sheds light on inherited retinal disease - Jan 18, 2010
- 'Bionic eye' to help the blind 'see' - Dec 21, 2010
- Novel way to prevent blindness caused by retinitis pigmentosa - Jun 12, 2010
- Bionic eye to help the blind 'see' - Nov 27, 2010
- Study identifies key mechanisms in geographic atrophy - Feb 07, 2011
- New prosthetic device offers to hope to the visually impaired - Nov 19, 2010
Tags: american journal of human genetics, blindness, blood vessels, carmel, chromosome 7, conclusion, counselling, doctors, exudative, family members, faulty gene, gene discovery, genes, journal of human genetics, molecular medicine, mutations, retina, retinal damage, surgical intervention, university of leeds