British researchers are set to reveal breakthroughs in the care of a rare genetic eye disease today.
The researchers say they have found the most serious genetic mutations lying behind Bardet-Biedl syndrome, which affects around 500 people in the UK.
The disease often surfaces in childhood and can cause blindness, learning difficulties, obesity and even extra fingers and toes.
Researchers say the discoveries could open the way for gene therapy to tackle the disease.
And they will also help doctors give better advice to patients – as they can now distinguish the most serious form of the disease from the least serious.
The discoveries are to be reported to the conference of the British Society for Genetic Medicine in Liverpool, UK.
The researchers say doctors will now be able to give priority to those patients who are likely to develop the most serious problems.
Researcher Dr Jennifer Forsythe, from University College, London, UK, there were two types of gene therapy that could help some patients. Some 10% might benefit from a treatment called read-through therapy while 8% might benefit from exon-skipping therapy.
She said: "Parents ask us ‘What is the future going to look like for my child?’ and we are now making some headway in being able to answer those questions.
"By identifying patterns in the types of genetic mutations people have, we can give them a better idea of the challenges they’re going to face so they can prepare for them."
* A second study from University College, London, says pregnant women are increasingly choosing to use a new non-invasive blood test aimed at detecting Down syndrome in the unborn child.
The study found that 10% of women still chose to use the traditional needle test, despite its risks, because it is faster than the new test.
The new test is on trial at eight ante-natal clinics.
* A third study from the college, reported to the conference, reveals a new gene linked to a rare lung disease, primary ciliary dyskinesia.
The disease affects one in every 20,000 people and only about 60% of cases have known genetic causes.
Researcher Dr Hannah Mitchison found the mutation in the latest gene, CCDC151, in a family where the gene affected two children.
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