March marked the beginning of the third month of our NPC HTS campaign. Let’s take a closer look on what happened in PLab.

On the heels of World Rare Disease Day 2015, we released a video animation of a rap called Gene’s Eye View, which was written by Baba Brinkman for his new album, the Rap Guide to Medicine. Well worth the listen.

Tom was in Chicago the first week of March for the annual Genetics Society of America’s Drosophila research meeting aka #DROS15. Tom presented a poster on our NPC fly screen. (Sangeetha will be at the annual GSA worm meeting in June).

Sangeetha penned a #longread that explains the mechanics of our NPC worm screen. Unlike the the NPC fly screen, which involves 5 animals per well of a 96-well plate, the NPC worm screen involves 40 animals per well of a 384-well plate. That’s why we need an automated visualization and analysis pipeline.

Nina and Alec continue to advance our yeast screening efforts. We have two pharmacological (as opposed to gene mutation) models of NPC. In other words, NPC-like cellular phenotypes, e.g., intracellular cholesterol accumulation, can be induced by a small molecule, in this case U18666A.

The Grace Wilsey Foundation (GWF) held its first NGLY1 conference in Palo Alto last month. Matt Wilsey assembled the world’s NGLY1 brain trust in one room to coordinate efforts across multiple fronts, from understanding the basic biology of NGLY1 to natural history studies taking place at NIH, to various and sundry therapeutic avenues, including small molecules drug screens.

Alec has been an ace at the Echo550. Here he’s learning how to use the BioSorter for the worm screen.

Progress report on the NPC HTS campaign, which spans three different models. In the last week we eclipsed the 50% mark. At the current accelerated pace, we’ll reach the 100% mark in 4-6 weeks. Till next month!

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