Tag: rare disease

2018 Parseghian Conference recap

2018 Parseghian Conference recap

I just attended the 2018 Michael, Marcia, and Christa Parseghian Scientific Conference for Niemann-Pick Type C (NPC) research. My mind is still spinning from all the productive interactions and conversations I had over three session-packed days at The Westin La Paloma...
Modeling PMM2 deficiency in Drosophila

Modeling PMM2 deficiency in Drosophila

An update on the development of PMM2 Drosophila models, and our work to design high throughput drug screen for PMM2 deficiency — Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common type of congenital disorder of glycosylation resulting from a defect in...
Modeling Gaucher disease in worms

Modeling Gaucher disease in worms

In 2016, Perlara and Wylder Nation launched a PerlQuest to find a cure for Niemann-Pick Type A (NPA). We have also been developing simple organism disease models for Niemann-Pick Type C (NPC) as a part of our research collaboration with Novartis. An interesting...
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