High-School Science Project Identifies Mutant Choroideremia Gene

Exploding paper-mache volcanoes. Solar systems made of styrofoam balls. Carrot electricity. I remember the sights, smells, and sounds of my high school science fair as it was yesterday.

Those earth-shattering “discoveries” were decades before one sophomore identified the mutated gene in a family struggling with choroideremia, according to Foundation Fighting Blindness.
Choroideremia is a rare inherited disease that causes progressive vision loss leading to complete blindness. The condition occurs almost exclusively in men and can differ greatly between different people.

When he was 16 years old, Aditya Guru, decided to take on a bigger challenge than applying the correct amount of red food coloring to lend realism to his exploding volcano. Instead, he decided to produce a poster explaining how he used whole exome sequencing to find a gene mutation causing choroideremia in a large family.

If it sounds like a “heady” science project for an accomplished scientist, let alone a high schooler who hasn’t even taken advanced biology, it is. However, not everyone has a mother who is a leading retinal-disease geneticist and a father who is a therapeutic vaccine developer. For their son, it was just the kind of challenge he wanted, and he dove in to develop his school science project with a little help from his parents.

During his research, Guru found the mutation through genetic-screening technology. That is a very simple description of a very involved process, but it does sum up what his science project poster ended up explaining.

After Guru presented his poster at his high school science fair, he was invited to share it at the 2016 Association of Research in Vision and Ophthalmology (ARVO). ARVO is one of the largest gatherings of eye and vision researchers in the world, and Guru was very well received. To read more about this cutting-edge, up-and-coming researcher, click here.

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