University College London Researcher Dr. Shomi Bhattacharya Recognized for his Research on Why Vision Loss Can Vary for Family Members with Same Retinal Disease

July 05, 2016

(Baltimore, Maryland) – Shomi Bhattacharya, PhD, a long-time vision researcher and professor emeritus at University College London, has been awarded the Foundation Fighting Blindness Ed Gollob Board of Director’s Award for his research explaining why people with the same retinal disease within a family can have different degrees of vision loss. The award was presented at the Foundation’s 2016 VISIONS Conference this past weekend.

Inherited retinal conditions such as Stargardt disease and retinitis pigmentosa (RP) run in families. In some such families, retinal disease spans several generations with dozens of affected members. In other cases, a disease may only affect one or more siblings within a single generation. Researchers have understood the nature of these different retinal-disease inheritance patterns fairly well for several decades.

But what has perplexed scientists for a long time is that two family members — for example, brother and sister — can both have a retinal disease like RP caused by the same genetic defect, but have very different levels of visual impairment. One sibling may experience little vision loss throughout his or her lifetime, where another may be virtually blind by age 40.

While genetic experts have had theories about why this variation is relatively common, Dr.  Bhattacharya, identified the reason in people with RP caused by mutations in the gene PRPF31 —a finding that is also likely to explain at least some of the vision loss variation for other forms of RP and perhaps other retinal diseases.

Dr. Bhattacharya’s discovered a small piece of code within a region of a gene known as the promoter. In simple terms, genes express proteins, which are essential for the health and function of all cells in the body, including those of the retina. The promoter is like a gene’s gas pedal; it controls how much protein is made. Dr. Bhattacharya found that in people with RP caused by PRPF31 mutations, their vision loss strongly correlated with this small coding sequence in the promoter. Certain sequences led to better gas pedals, and therefore more protein and better vision. Other sequences led to weaker gas pedals, less protein, and worse vision.

“Dr. Bhattacharya’s discovery is important because it not only gives us a better understanding of vision loss variation within families, it might also give researchers new targets for vision-saving treatments, said FFB’s Chief Research Officer, Dr. Stephen Rose.  “Over the course of his career, Shomi has had an enormous impact on the retinal-genetics field having identified 25 novel loci and genes for inherited eye diseases including those for retinitis pigmentosa,” added Rose.

The Foundation’s Ed Gollob Board of Director’s Award is given annually to a scientist for work that advances retinal disease research and supports vision-saving treatments and cures.