It’s All in the Genes
15-year study uncovers first known genetic cause for rare retinal disease
Phoebe Harkin | | Quick Read
Paul Bernstein has spent 15 years working with macular telangiectasia type 2 (MacTel) patients – a rare inherited retinal disease that causes gradual loss of central vision in people over the age of 40. Bernstein’s job, along with others at the Lowy Medical Research Institute, was singular – to identify as many familial cases of MacTel as possible to aid in gene discovery. More than 250 patients enrolled in the program – part of an LMRI network of more than 30 centers around the world. It was one of those cases – a father and son – which led him to a breakthrough: a connection between HSAN1, a very rare hereditary sensory neuropathy, and MacTel.
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