Usher Syndrome: an Idea and a Drug

Usher-kindle copy

There are many people around us we tend to avoid: loud, dangerous and especially sick. There are also many people who suffer from genetic diseases we’ve never even heard about. Unless,  we ourselves or our friends or relatives are the ones who are affected.

When I published my story called Usher Syndrome I was often asked if I made up this syndrome. (Yep, apparently some folk are oblivious to the existence of search engines)

As a biologist  and a science communicator I prefer using examples of real life organisms, processes, diseases in my fiction as I believe any kind of reading should be both interesting and educating.

Usher syndrome is a genetic disorder, caused by defects in one of ten genes, each of them involved in supporting hearing/balance and visual functions. Depending on the country of origin 0.05-0.005% of kids are born with Usher syndrome and they  are deaf/hard-of-hearing with various degrees of blindness progression over the years, depending on which gene is affected and a nature of mutation. This means millions of people around the world suffer from this disorder.

The Usher protein network. All identified protein–protein interactions are indicated. Red colored boxes indicate association with Usher syndrome, blue color indicates association with isolated retinitis pigmentosa (causes visual impairment) and black indicates association with isolated deafness.  Kremer H et al. Hum. Mol. Genet. 2006; 15:R262-R270 © The Author 2006. Published by Oxford University Press.

Post-genomic era brought in sophisticated molecular techniques for the first time allowing us to treat genetic disorders on the most fundamental level – the genomic DNA.
A new study by Hastings and colleagues published in the Nature Medicine journal described a novel way of treating Usher syndrome.

The method uses synthetic RNA-like molecules, which help to correct a defective gene, Ush1c, also called harmonin, in the deaf mice. The researchers conducted experiments in these mice and showed hearing and balance restored in the mutant mice after administration of the drug. The method can potentially be used to correct other gene mutations causing this and other diseases. It can also be used to stop the progressing blindness.

In my story I described a hypothetical mutation in ush2a gene, usherin, and suggested a different  way of repairing it, but  still using a gene intervention approach. It’s good to see that three years after I wrote the story my colleagues in the Usher syndrome field created a real drug, which already works in mice. Clinical trials is the next step.

There’s always hope.

You may click on the logos below to find out more about Usher syndrome and  the related disorders.

new-fbb-logo-2012

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  • http://www.facebook.com/georgewpolley George Polley

    A very informative post Grigory. Thank you for sharing it.

    • GrigoryRyzhakov

      you’re welcome, George. :)