Tag: NGLY1

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

What the NGLY1 community can learn from the humble fly On the first day of the new year, we submitted a new NGLY1 model preprint entitled “Defects in the neuroendocrine axis cause global developmental delay in a Drosophila model of NGLY1 Deficiency.” Follow on...
CRISPR genome editing to make an NGLY1 fly

CRISPR genome editing to make an NGLY1 fly

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...
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