cri de cure

March 07, 2013

That PhD glut people keep talking about? Turns out it’s bigger than we thought. 1 in 10 Americans have a rare disease. Each person has two parents. After spending Rare Disease Day 2013 (#RDD13) at NIH, I now realize that every Mom and Dad of a child with a rare disease has earned an honorary PhD. Their smarts, resourcefulness and tenacity equal that of any graduate student I ever met. Except rare disease parents didn’t toil through grad school to satisfy curiosities or to start an academic career. For many of them, a precious life is running out.


I was fortunate to meet and interact with several rare disease parents, mostly Moms. Lori Sames was introduced to me by my friend Sean Ekins, a proponent and practitioner of Open Science Drug Discovery. Lori and her husband live in Albany NY. Their daughter Hannah has Giant Axonal Neuropathy, or GAN. Lori is executive director of Hannah’s Hope Fund, which would raise as much as $1,000,000 this Spring if an all-or-nothing challenge grant were matched. The three of us converged on a greasy spoon in downtown Bethesda the night before the meeting. In a whirlwind tutorial over mozzarella sticks and 7-Up, Lori breathlessly explained everything known to humankind about gigaxonin, the damaged protein underlying GAN, which is usually but not always associated with curly hair.


Lori told me she had studied economics and it showed. She rattled off obscure sounding gene names just as quickly as she remarked on VCs, CROs and INDs. It was almost like watching an entrepreneur crushing it on Shark Tank, except instead of pitching some random startup idea, Lori was effortlessly discussing how to bring new GAN treatments and cures to market.


Later at the meeting itself, I sought out the parents of kids with one of the ~50 lysosomal storage diseases (LSDs), of which Tay-Sachs disease may be the most well known. My affinity for LSDs stems from my lab’s work on vacuoles, the yeast version of lysosomes. I met parents just like Lori. Patty Burkholder Taormino’s son has Sanfilippo Syndrome and is part of group called Team Sanfilippo. Melissa Hogan’s son has Hunter Syndrome, another mucopolysaccharidosis, and her foundation is called Saving Case. And then I met the Hempels of Nevada, whose twin daughters have Niemann-Pick Disease. The meeting organizers screened a poignant documentary about the Hempels called Here. Us. Now.


So how we deploy this amazing human capital to cure diseases faster?


I want to build rare disease research into my hybrid drug discovery business model. I went to #RDD13 specifically to talk to parents, researchers and administrators about the use of simple genetic models in rare disease research. Three of the most well-studied genetic model organisms are brewer’s yeast (Saccharomyces cerevisiae), nematode worms (Caenorhabditis elegans) and fruit flies (Drosophila melanogaster):


simple model orgs


I was very surprised to find out that gene therapy, stem cells, and in some case enzyme replacement, were the only therapeutic pipelines people were talking about. Seems to me that taking an evolutionary approach to drug discovery is long overdue. And based on work from Susan Lindquist’s lab or Aaron Gitler’s lab or Stephen Sturley’s lab, I’m not the only one with this idea. Turns out yeast cells can teach us about human diseases like Parkinson’s or ALS even though they lack brains.


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  • Patty

    Spot on about rare disease parents!

  • Karen

    What about the rare disease patient- what do they earn if their parent earns a Phd.? Parents do learn and go through a lot when they are dealing with a rare disease

  • Tal Givoly


    As I have written on Susannah Fox’s blog (she tweeted the quote from your post, above “Every Mom and Dad of a child with a rare disease has earned an honorary PhD”):

    I absolutely agree with you in that statement. In fact, what we are all seeing is that, in general, whenever someone becomes seriously sick these days, someone becomes a web researcher. This is true for rare diseases, as well as other serious or chronic conditions. However, as abundant as the information on the web is, it’s very difficult to locate the information that is relevant to one’s specific case of interest, and especially in a way that people can understand and act. That’s why we created Medivizor.

    Medivizor ( / @medivizor) will allow people to provide information about their specific situation and then it will provide them any and all information that’s relevant, in a way they can understand and act. It currently is in invitation-only early-access mode and supports only a few medical conditions (prostate cancer, breast cancer, colorectal cancer, and diabetes), so it is not yet be suitable for all rare disease just yet, but give us time and we’ll expand. It’s certainly a challenge that rare disease has many research and information challenges.

    We’d like to help take some of this effort of becoming a PhD and focus it back on other important things in life, while providing all the benefits.

    Would appreciate feedback.


  • Sebastien `Subs´ Murat

    “Science is an open-box and we are all explorers”
    Adam Savage (MythBusters)TED-Ed

    I see this constantly:bona fide researchers becoming less and less expert because they’re spending less and less time actually thinking and doing in research thinking. I mean, think, research grants, student to mentor, writing up, and dealing with bureaucracy. It is no surprise that those with the time and resources are actually the experts.Moreover, their passionate, super motivated and tarnished by the establishment experiences.

    I think you’ll find that citizen science by doers in this lot is going to absolutely take off. And, for those who think that sciencecan only be done by PhDs, well they’re going to be in fora very rude awakening. I think that the nature of education is transforming, and if unversities can’t adept (unlikely in general, given their size and in-grained tradiional beliefs system), they they’ll simpli go bust. PhD’s areno longer worth what they use to be, just like being an astronaut is no longer as cool as it use to be.

    What Ethan is doing is smart because it makes him more robust and less fragile to this upcoming Black Swan event (see N.Taleb’s , `The Black Swan´).