Researchers uncover new forms of blindness

April 8, 2014, University of Leeds

Scientists from the University of Leeds have discovered six new forms of inherited blindness, each one resulting from mutations in a different gene important in eye development and vision.

The research, carried out by experts from the University's School of Medicine over the past three years, focuses on identifying new genes which, when mutated, cause these blinding disorders.

Pinpointing the exact cause gives clinicians the ability to offer their patients more information about how their condition will progress, what risk there is to relatives, and in some cases can point to specific treatment.

A grant from the National Eye Research Centre, together with funding from other sources, supported a team led by Professor Chris Inglehearn, Dr Manir Ali and Dr Carmel Toomes. They studied local families, particularly from the West Yorkshire Pakistani community where such conditions are common, in order to track down the genes involved.

Using DNA technology, they sequenced every gene in patients from families in which multiple members were blind from birth due to conditions such as Leber's congenital amaurosis, cone-rod dystrophy or global defects of .

Professor Inglehearn said: "Finding these genes is important in many ways. As well as directly benefitting families it allows researchers to build a more comprehensive list of the genes needed for the eye to develop and function properly.

"This greater understanding, together with next generation DNA sequencing technology, is driving a diagnostic revolution in inherited eye diseases.

"As the cost of sequencing comes down, it will soon be feasible to sequence all patients. This still doesn't lead us straight to the mutations that cause the condition, but as we and others identify more of the genes involved, we get progressively better at interpreting their DNA code to work out what the problem is in each patient."

The National Eye Research Centre is now fundraising to support the Leeds team on the next steps in the research, in which the greater knowledge gained is used to screen patients on a larger scale, developing and testing new methods to reduce cost and bring closer a time when such tests are available to all patients and their families on the NHS.

"As well as improving diagnostics, the greater understanding of the biology of vision gained from such studies also informs the search for new forms of therapy," Professor Inglehearn added.

"Since new therapies are often specific to particular forms of inherited , it is essential for each patient to know which condition they have, so that when new treatments are being tested they can enrol on clinical trials, helping to test the new therapies and potentially benefiting from them themselves."

Mike Daw, of the National Eye Research Centre, said: "This is exactly the type of research that my charity is proud to support and demonstrates how advances in DNA sequencing might lead to individually targeted treatments which have the potential to improve the vision and outcomes for hundreds, and perhaps thousands, of people."

Explore further: Researchers probe genetic link to blindness

Related Stories

Researchers probe genetic link to blindness

September 8, 2011
University of Leeds researchers have used next-generation DNA sequencing techniques to discover what causes a rare form of inherited eye disorders, including cataracts and glaucoma, in young children.

Genetic mutations warn of skin cancer risk

March 30, 2014
Researchers have discovered that mutations in a specific gene are responsible for a hereditary form of melanoma.

BROCA sequencing approach evaluates all 24 genes implicated in breast cancer

October 24, 2013
Since 1994, many thousands of women with breast cancer from families severely affected with the disease have been tested for inherited mutations in BRCA1 and BRCA2. The vast majority of those patients were told that their ...

Cheap genome tests to predict future illness? Don't hold your breath

January 20, 2014
Sydney's Garvan Institute is this week promoting its acquisition of an Illumina machine which it says can sequence the whole human genome for $1,000. The institute hopes genomic sequencing will become widely available in ...

Recommended for you

Peers' genes may help friends stay in school, new study finds

January 18, 2018
While there's scientific evidence to suggest that your genes have something to do with how far you'll go in school, new research by a team from Stanford and elsewhere says the DNA of your classmates also plays a role.

Two new breast cancer genes emerge from Lynch syndrome gene study

January 18, 2018
Researchers at Columbia University Irving Medical Center and NewYork-Presbyterian have identified two new breast cancer genes. Having one of the genes—MSH6 and PMS2—approximately doubles a woman's risk of developing breast ...

A centuries-old math equation used to solve a modern-day genetics challenge

January 18, 2018
Researchers developed a new mathematical tool to validate and improve methods used by medical professionals to interpret results from clinical genetic tests. The work was published this month in Genetics in Medicine.

Can mice really mirror humans when it comes to cancer?

January 18, 2018
A new Michigan State University study is helping to answer a pressing question among scientists of just how close mice are to people when it comes to researching cancer.

Epigenetics study helps focus search for autism risk factors

January 16, 2018
Scientists have long tried to pin down the causes of autism spectrum disorder. Recent studies have expanded the search for genetic links from identifying genes toward epigenetics, the study of factors that control gene expression ...

Group recreates DNA of man who died in 1827 despite having no body to work with

January 16, 2018
An international team of researchers led by a group with deCODE Genetics, a biopharmaceutical company in Iceland, has partly recreated the DNA of a man who died in 1827, despite having no body to take tissue samples from. ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.