When Citizen Science Works

When Citizen Science Works
Kimberley Wiggins gives us the story of an email that led to a medical breakthrough

There are many hallmarks of a great scientific mind: the ability to think outside the box, the capacity to see connections between seemingly unrelated situations, and the aptitude to ask relevant questions and think up a way to answer them. Although scientists try to nurture and develop these skills throughout their careers, you do not have to be a trained scientist to have a scientific mind.

‘Citizen Science’ is a term that describes the contribution of non-professional scientists to research. Most cases involve researchers asking the public for help collecting information, which can generate larger data sets covering a greater geographical area. For instance, the ‘Globe at Night’ programme by the National Optical Astronomy Observatory involves participants counting how many stars they can see from their current location to create a global map of light pollution. These projects can also be used to analyse huge data sets with a lower error rate than a computer. For example, scientists at Cancer Research UK designed the online game ‘Genes in Space’, allowing multiple people to independently analyse 46000 sets of breast tumour samples to identify faulty regions of DNA.

Citizen science can also work in the opposite direction, with non-scientists proposing a hypothesis and enlisting the help of professionals to test it. This was the case for Chris Hempel, a mother-of-two and businesswoman with a subscription to Nature. In 2010, Chris came across an article about cholesterol in atherosclerosis published by Eicke Latz’s group at the University of Massachusetts. Atherosclerosis is a condition that precedes heart attacks and strokes. During the early stages of disease, fats accumulate along artery walls at sites called ‘plaques’, which leads to the recruitment of immune cells. The article described how cholesterol crystals deposited in plaques directly activate a group of proteins within immune cells. This then drives inflammation that can contribute to the progression of disease.

Chris’s story shows that you don’t need multiple science degrees to think like a scientist

The mention of cholesterol interested Chris because her daughters both have Niemann-Pick type C disease – a rare but serious cholesterol storage disorder. The genetically inherited disease results from the mutation of the gene NPC1, which encodes a protein that regulates the transport of cholesterol within a cell. The defective protein causes the inappropriate accumulation of cholesterol inside cells. This affects several major organs, including the brain, and is a leading cause of juvenile dementia.

At the time of the article, Chris’s children were being treated with a drug called cyclodextrin, which is used in the food industry to remove cholesterol by making it over 300,000-times more soluble. Chris emailed Professor Latz, asking whether cyclodextrin might also be able to clear the cholesterol crystals in atherosclerotic plaques, thereby preventing disease progression. This email sparked years of research that was recently published as a paper in Science Translational Medicine, on which Chris is an author.

Latz and colleagues used an established mouse model of atherosclerosis to show that treatment with cyclodextrin led to smaller plaques containing fewer cholesterol crystals. A longstanding problem facing the atherosclerosis field is that preventative treatments often have limited use clinically. This is because people only realise they have cardiovascular disease after a heart attack or stroke, by which time the atherosclerosis is advanced. However, Latz’s group found that cyclodextrin could not only prevent plaque formation, but also reduce the size of existing plaques. This finding, coupled with the fact that cyclodextrin is already safely used in humans to treat other conditions, means that this drug represents a real candidate for preventing and treating cardiovascular disease.

Chris’s story shows that you don’t need multiple science degrees to think like a scientist. She made the connection between her daughters’ extremely rare disease and the biggest causes of death in the developed world, and in doing so she identified a treatment with the potential to save many lives in the future.