How pharmaceutical industry financial modelers think about rare diseases
This is an impressive article and an impressive couple. From the site's about page:My name is Eric Vallabh Minikel and I’m on a lifelong quest to develop a treatment or cure for human prion diseases. I originally trained as a city planner at M.I.T. and was working as a software engineer and data analyst in the transportation sector when, in December 2011, I got some bad news. My wife and the love of my life, Sonia Vallabh, tested positive for a mutation (PRNP D178N cis-129M) that causes genetic prion disease, and that had claimed her mother’s life one year earlier. Sonia was 27 at the time. The mean age of disease onset for her mutation is around 50, and the mutation is highly penetrant, meaning she is exceptionally likely to develop the disease unless a treatment or cure is found.Sonia and I set out on a quest to re-train ourselves as scientists. We both started taking night classes, reading papers, calling up scientists, going to conferences. We left our old careers and found jobs in research labs, and eventually enrolled at Harvard Medical School, where we are now PhD students in biological and biomedical sciences.One thing I've learned from smart family and friends about medical care is that you can sometimes improve outcomes quite a lot if you apply brains and effort. I have relatives who managed to convert their dad's brain cancer outcomes from a couple of months in palliative care (which the doctors were recommending) to five more mostly-good years, by finding better surgeons, signing him up for clinical trials, and getting to the cutting edge of the research and applying it. For example they switched him to a ketogenic diet back when this was just starting to show results for cancer. These guys are taking this approach to the extreme! I hope they get the result they're looking for.