PMM2-CDG PerlQuest

“We couldn’t be more excited to be working with a true innovator in Perlara. Their dedication and devotion to work with families to find cures was evident on our first call. Our daughter, Maggie, has an amazing spirit and is working hard – be it in physical therapy or in her school – on a daily basis. As parents we feel we owe it to her to do whatever we can to find a treatment and we are overjoyed to be working with Perlara on Maggie’s journey.”

Holly and Dan Carmichael
Founders of Maggie’s PMM2-CDG Cure

Our Progress

Stage 3 is underway! In parallel we’re in licensing discussions to advance repurposable drugs toward clinical development.

PMM2-CDG PerlQuest News

Yeast Models Of Phosphomannomutase 2 Deficiency, A Congenital Disorder Of Glycosylation

Perlara Announces Third Patient Advocacy Group Partnership

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PerlQuest updates from our Blog

PMM2-CDG preprint figures – part 2

by Jessica Lao | November 19, 2018 | PMM2-CDG | 0 Comments

This is a continuation of a previous post, which covered Figures 1 – 4 of Perlara's preprint on bioRxiv, describing our work in modeling PMM2 patient alleles. This work is currently under review at the Genetics Society of America's peer-reviewed journal G3. This...

PMM2-CDG preprint figures – part 1

by Jessica Lao | November 19, 2018 | PMM2-CDG | 0 Comments

Last September, we submitted Perlara’s second preprint to bioRxiv describing our yeast models of PMM2 deficiency. This work is currently under review at the Genetics Society of America's peer-reviewed journal G3. Below is the description of the figures from the...

New PMM2-CDG preprint

by Ethan Perlstein | September 20, 2018 | PMM2-CDG | 0 Comments

Last week, we posted a preprint describing new yeast models of Phosphomannomutase 2 Deficiency, or PMM2-CDG, the most common congenital disorder of glycosylation in the world. This PMM2 model preprint is our second preprint on bioRxiv which, for the uninitiated, is...

Modeling PMM2 deficiency in Drosophila

by Julide Bilen | June 7, 2018 | PMM2-CDG | 0 Comments

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...

An update on PMM2-CDG yeast models

by Jessica Lao | May 8, 2018 | PMM2-CDG | 0 Comments

Drug repurposing screen in haploid PMM2-CDG yeast models During Stage 1 of our PerlQuest partnership with Maggie’s Cure, we generated haploid PMM2-CDG yeast models of three pathogenic variants: F119L, R141H, and V231M. We expressed these variants in the yeast...

A chemical modifier screen for PMM-2 deficiency in worms

by Sangeetha Iyer | February 20, 2018 | PMM2-CDG | 0 Comments

Perlara and Maggie’s Cure have started a PerlQuest for a glycosylation disorder called PMM-2 deficiency disease - one of the most common congenital disorders of glycosylation. Over the past year at Perlara, we have modeled the pmm-2 deficiency disorder in yeast, worms...

Yeast models of PMM2 deficiency, a congenital disorder of glycosylation

by Jessica Lao | January 29, 2018 | PMM2-CDG | 0 Comments

A goal of Stage 1 of our PMM2-CDG PerlQuest with Maggie’s Cure is to identify yeast models that are suitable for use in screens for small molecules that rescue PMM2 deficiency. As described below, we successfully developed screen-ready yeast models that mirror two...

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