by Joshua Mast | Apr 30, 2018 | Science |
My colleague, Tamy Portillo Rodriguez, and I attended the 59th Annual Drosophila Research Conference – a fantastic meeting of scientists exploring many different fields of biology using the fly – in Philadelphia earlier this month. The conference (in some...
by Tom Hartl | Aug 16, 2016 | Science |
Here I’ll sum up a recent paper in Developmental Cell by E. Thomas Danielson and Morten E. Moeller. The paper, entitled “A Drosophila Genome-Wide Screen Identifies Regulators of Steroid Hormone Production and Developmental Timing,” utilized the Vienna Drosophila RNAi...
by Ethan Perlstein | Jul 21, 2016 | Blogposts, Science |
Last month I traveled to Tucson for my third consecutive Ara Parseghian Medical Research Foundation meeting for Niemann-Pick Type C/NPC. In 2014 at my first APMRF meeting, which was hosted in South Bend at Notre Dame University, I was a newcomer to the NPC community...
by Tom Hartl | Jul 1, 2016 | Science |
Last week I attended the 2016 Mucolipidosis Type IV (MLIV) conference in Atlanta. It was organized and hosted by the MLIV Foundation. The attendees were about 50/50 MLIV scientists and MLIV families/patients. This is a small and very tight knit community. The MLIV...
by Tom Hartl | Jun 2, 2016 | Science |
Niemann-Pick type C (NPC) is a tragic childhood neurodegenerative disease. The majority of NPC cases (95%) are caused by mutations in the npc1 gene. Npc1 is a late endosomal/lysosomal (LEL) protein that is necessary for proper lipid trafficking. When Npc1 is...
by Ethan Perlstein | May 29, 2016 | Science |
At PLab we’re always on the lookout for new publications describing simple animal models of rare genetic diseases. The more non-obvious the model/disease fit appears at first blush, the more exciting are any results that confirm therapeutic relevance in humans...