Today marks the publication of my first paper since I set out to become a scientist and devote my life to studying prions. The paper was published in American Journal of Human Genetics today. You can read the full text here.
Any E200K family members who were at the 2012 CJD Foundation meeting in Washington, D.C. will remember this presentation claiming that age of onset is decreasing over the generations, such that people with the E200K mutation on average die 12 years younger than their parent with the mutation did. You may also have seen this publication arguing the same, which was discussed in the CURE CJD Facebook group several months ago. If you’re anything like us, these claims probably made you pretty worried.
The good news is, in our new paper we find that the apparent difference between parent and child age of onset is simply an artifact of the way that patients are ascertained for studies of genetic disease. In my post at CureFFI.org I walk through the logic behind this in plain language and tell the backstory of how this paper came about. I’m proud to have collaborated with several of the prion field’s best geneticists and neurologists – Michael Geschwind at UCSF, Simon Mead at MRC Prion Unit, Inga Zerr from German CJD Surveillance and Steve Collins from the Australian National CJD Registry are all co-authors.
I owe a huge thank you to all of the patients and family members who contributed data to these scientists over the years – your contributions were critical for making this study work.