Tag: NGLY1 Deficiency

Developing an NGLY1 worm screen

Developing an NGLY1 worm screen

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...
Economies of Rare

Economies of Rare

Economies of scale are the efficiencies unlocked by large numbers. I’ve come to realize that the efficiencies of scale can emerge at the opposite extreme of rare – especially ultra-rare – genetic disease communities, which can number as few as dozens to thousands of...
New NGLY1 preprint

New NGLY1 preprint

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...
Fly models of NGLY1 Deficiency

Fly models of NGLY1 Deficiency

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,”...
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