MRC Institute of Genetics & Molecular Medicine
MRC Institute of Genetics & Molecular Medicine

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Child blindness research highlighted in the media

Researchers identify genetic changes linked to coloboma: January 2014

A team of researchers, including Professor David Fitzpatrick from the MRC Human Genetics Unit at the IGMM, have identified genetic changes linked to coloboma, a malformation of the eye which affects around one in every 5,000 births.

A gene known as YAP1 was found not to be working in some patients and led to the disease. Researcher David FitzPatrick, explained: ““Everyone has got two copies of each gene. Individuals who have got these genetic changes have got one copy of the YAP1 gene that works and one that doesn’t work. This is the first time anyone has identified any change in YAP1 which causes human disease.”

The research is featured in the Scotland on Sunday (26 January 2014).