by Ethan Perlstein | Oct 25, 2018 | NGLY1 |
This past summer was a rare disease conference-palooza. In July, I attended the 2018 NGLY1 Conference, hosted by Grace Science Foundation (GSF) in Palo Alto. It was the 5th gathering of families and scientists from around the world, united behind one goal: to find a...
by Hillary Tsang | Mar 22, 2018 | NGLY1 |
In 2016, Perlara and Grace Science Foundation launched a PerlQuest for NGLY1 Deficiency (also known as NGLY1-CDDG). As a part of this collaboration, we have embarked on developing an NGLY1 worm screen. This post will detail the worm team’s latest progress toward...
by Ethan Perlstein | Feb 13, 2018 | NGLY1 |
On the first day of the new year, we submitted a new NGLY1 model preprint titled “Defects in the neuroendocrine axis cause global developmental delay in a Drosophila model of NGLY1 Deficiency.” Follow on Twitter. Here I will explain in plain English what the NGLY1...
by Ethan Perlstein | Jan 19, 2018 | NGLY1 |
Earlier this week I was alerted on Twitter (where else?) to a new NGLY1 paper from Dr. Clement Chow’s lab at the University of Utah titled: “Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches,”...
by Tom Hartl | Dec 1, 2015 | NGLY1 |
N-glycanase 1 deficiency, or “NGLY1,” is a rare genetic disorder arising from mutations in the ngly1 gene. The disease was recently diagnosed in what was a remarkable partnering of patient advocates and scientists who used DNA sequencing to trace the disease-causing...
