July in tweets

July marked the transition from the primary screening phase of our Niemann-Pick C drug discovery campaign to the hit validation phase. And lots more happenings in and around the lab.

https://twitter.com/JohnTuckerPhD/status/616333838931734528

We started out the month with a visit from our Med Chem advisor. We spent the poring over chemical structures in search of meaningful structure-activity relationships (SAR). And we took a break to have lunch at the Dogpatch dog park.

Our favorite science hip hop artist, Baba Brinkman, creator of the Gene’s Eye View rap about the evolutionary origins of Mendelian diseases, cut another track for PLab, this time about Niemann-Pick C. (The companion video is currently in production, so stayed tuned for more).

Sangeetha attended the biennial C. elegans meeting in June at UCLA, where she presented data on our NPC screens. Next year the whole PLab team will attend GSA’s multi-model-organism bonanza in Orlando.

Here’s an example of preliminary summary data of the NPC fly screen. At some point, hopefully next year, we’ll be publishing these screens, which are the first of their kind in terms of using model organisms in drug screens for monogenic diseases.

Another dataset we worked on this summer had nothing to do with our NPC screens. Instead, we took a closer look at orphan drugs for monogenic diseases, including the rate of orphan drug approvals and their costs over the last 30 years. You can read the two installments here, and here.

Nina was in Philly attending the 2nd Rare Disease Collaboration Summit sponsored by ExLPharma. She presented our progress to an audience of potential clinical partners and interested patient advocacy groups.

Tom penned a post about Niemann-Pick C, specifically why certain populations of neurons in the cerebellum called Purkinje cells can’t survive in the absence of NPC1 function.

Nina and Sangeetha talk about what we do at PLab for a promotional video produced by a group that visited QB3@953 this summer in search of biotech startup stories.

Remember your Punnett squares and meiotic recombination? Here’s Tom and Tamy have a little fun with basic fly genetics.

Maria, our summer intern, worked hard all month to generate this control data, which confirmed that the ALS yeast models we received from Dr. Aaron Gitler’s lab behaved as expected. Maria wraps up her internship at the of August, and will hopefully be able to share her screening results then.

We’re always on the lookout for papers that demonstrate evolutionary conservation between human genes and their ancestral counterparts in model organisms.

Nina, who used to think a lot of viruses in her graduate work, got to flex her virology knowledge in service of Niemann-Pick C, as she explains in this blogpost. She will continue to blog about how lessons from virology unexpectedly apply to rare genetic diseases like NPC.

Hope everyone is enjoying their summers. See you next month!