Tag: yeast

CFTR-pancreatitis PerlQuest update

CFTR-pancreatitis PerlQuest update

In our previous CFTR-pancreatitis blog post, I discussed our plan of action for developing yeast models of pancreatitis-associated CFTR variants as a part of our Pancreatitis PerlQuest partnership with Mission: Cure. In this post, I will share with you the progress...
Perlara’s 2018 Global Genes presentation

Perlara’s 2018 Global Genes presentation

The Global Genes 2018 RARE Patient Advocacy Summit – one of the key events in the rare disease world – wraps up today. As the largest worldwide gathering of rare disease patients, advocates, and thought leaders, the summit brought together over 100 experts, who led...
New PMM2-CDG preprint

New PMM2-CDG preprint

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 GNAO1 in Yeast

Modeling GNAO1 in Yeast

As part of Perlara’s collaboration with the Undiagnosed Disease Network (UDN) and Harvard Medical School on the GNAO1 PerlQuest – which our Director of R&D, Nina DiPrimio, introduced in a previous post – I have been working with the yeast team headed...
Perlara Events – August 2018

Perlara Events – August 2018

In June, we launched Perlara On the Go, a monthly post updating you on upcoming events – be they conferences that Perlara team members are participating in, events that may be of interest to the life sciences community at large, or recaps of past events. Read on...
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