Citizen Science

Perhaps the stories are so interesting because they seem so improbable – tales of ordinary people faced with devastating genetic diseasesResearch Icon grabbing a hold of their destiny, doing their own scientific research and making important discoveries.

A recent account featured on This American Life by David Epstein, a reporter with the non-profit news site Propublica and the author of The Sports Gene, is the latest in a series of stunning stories that highlight what is possible with the right amount of data, diligence and luck. Epstein’s story looked at Jill Viles and Priscilla Lopes-Schleip, women who couldn’t seem more different – one a wheelchair-bound Iowan with wilted arms and legs, the other a Canadian Olympian known for her incredible musculature.

They both had mutations in the same gene that causes Dunnigan-type partial lipodystrophy a very rare genetic condition that results in the loss of subcutaneous fat in the limbs. But Jill had one other mutation in that same gene that triggered Emery-Dreifus, a rare type of muscular dystrophy. Epstein focuses on Jill’s incredible do-it-yourself approach to research, first identifying that she had lipodystrophy when she was only an undergraduate, and much later discovering that a connection between that condition and her rare form of muscular dystrophy. And this story shares some of the same elements as several others we’ve seen recently, in which individuals faced with troubling symptoms and few answers, decide to dive into the science on their own and actually make meaningful discoveries.

One of the more striking stories is a wonderful article that ran last year in The Atlantic by Ed Yong. It focuses on Kim Goodsell, an endurance athlete who taught herself genetics to find out why she suffered from the rare genetic nerve disorder, Charcot-Marie Tooth disease, and another genetic disorder that affects her heart called arrhythmogenic right ventricular cardiomyopathy (ARVC). Smart and driven, Kim, who is not a scientist, was able to figure something out about the conditions that no one else had, that they were connected by mutations in the same gene, LMNA.

Finally there is the story about Eric Minikel and Sonia Vallabh, a married couple who changed their careers and became researchers after they learned that Sonia would likely develop a devastating and fatal neurodegenerative condition. The pair recently authored a paper making important new findings about prion disease. There is some debate about whether stories like these represent a harbinger of things or simply edge case exceptions. The efforts featured each of these stories have yet to result in a cure, but each person featured is inspiring for what their efforts represent. Even if these are examples that few others could follow, they do point to the value of enlisting the patient in their own treatment.

As Eric Topol pointed out in Ed Yong’s story:

“People have been talking about empowering consumers since there was an Internet, but finally, we’ve reached a point where someone can delve into their condition beyond what the top physicians at the Mayo Clinic could.”