cri de cure
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):
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.