My PhD is focussing on addressing fundamental questions in <i>how</i> prions behave like they do.<p>Often in medicine edge cases provide insight into a more general mechanism or process (e.g. Li Fraumeni and p53/cancer, retinoblastoma and Rb). Part of my work is considering the idea that prion diseases may be very pure examples of a more general process observed in a huge range of neurological diseases, from ALS to Alzheimers to Huntington's to Parkinsons.<p>While there is some fantastic work going on at the clinical/<i>in vitro</i> side, I hope that a more general understanding of the physical processes governing phenotype will help provide a broader class of treatments.<p>WRT Eric and Sonia's passion for the research - I've done research in a range of areas, and I've never found a puzzle as fascinating and as engaging as this. I keeps me up at night. I go through flashes of theories and ideas that I have notebooks full with possible hypotheses and associated experiments. The putative overlap in related and unrelated areas of research, from oxidative damage to epigenetic regulation to arguments relating to 3D diffusion within the cellular environment, is extensive and both a source of inspiration and trepidation. Basically, I can entirely relate to that constant feeling of engagement and interest. My work has accidentally become my hobby, and it's awesome.
Physician here, great article.<p>Let me say that on the spectrum of diseases if I rank them from weak to strong in terms of our ability to defeat them:<p>Bacteria - Virus - Prion<p>We are so far from being able to treat prion diseases, it is an entirely different order of magnitude of difficulty than our ability to treat viruses.
What's really cool is that the two people got funding for their research on Microryza, a YC company: <a href="https://www.microryza.com/projects/can-anle138b-delay-the-onset-of-genetic-prion-disease" rel="nofollow">https://www.microryza.com/projects/can-anle138b-delay-the-on...</a>
these diseases are terrifying, I used to work on the biophysics of diabetes, which has similar properties at the molecular level - and in our lab we had people working on alzheimer's and prion biophysics... After a long time, I'm not sure we know enough to have glimpses of where to begin, besides the obvious (currently, non-solution of) gene therapy.
<a href="http://www.ted.com/talks/russell_foster_why_do_we_sleep.html" rel="nofollow">http://www.ted.com/talks/russell_foster_why_do_we_sleep.html</a><p>I hope they get a chance to speak at TED themselves.
With no intention of trivializing a genuinely inspiring story ...<p><pre><code> [Deckard picks up paper unicorn.]
Gaff's voice: It's too bad she won't live. But then again, who does?
Deckard : Gaff had been there, and let her live. Four years, he figured.
He was wrong. Tyrell had told me Rachael was special: no termination date.
I didn't know how long we had together. Who does?
</code></pre>
Hope in the face of utter uncertainty. Now that's fortitude!
For those who are interested and able, a link to donate: <a href="http://www.prionalliance.org/donate/" rel="nofollow">http://www.prionalliance.org/donate/</a><p>(I am not affiliated)
bookmarked for later read. One of my neighbors worked in Charlie Prusiner's lab as a postdoc (I lived a couple blocks from UCSF), and i remember being baffled by how she described her research and thinking I should do some remedial reading.