“Although the research focused on a single person, it reverberated through the world of brain science and even got the attention of the (then) acting director of the National Institutes of Health, Lawrence Tabak. “Sometimes careful study of even just one truly remarkable person can lead the way to fascinating discoveries with far-reaching implications,” Tabak wrote in his blog post about the discovery.”
Very cool - they found an extended family in Medellin, Colombia where virtually everyone got early-onset Alzheimer’s. Except for one guy. Studying his genome revealed a variant related to Reelin, and subsequent studies suggest that Reelin is indeed neuroprotective.