by Jessica Lao | Oct 5, 2018 | Pancreatitis |
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...
by Naz Dana | Oct 4, 2018 | Rare Diseases |
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...
by Ethan Perlstein | Sep 20, 2018 | PMM2-CDG |
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...
by Gabriela Colmenares | Sep 11, 2018 | GNAO1 |
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...
by Jessica Lao | Aug 2, 2018 | Pancreatitis |
Perlara and Mission: Cure – a nonprofit organization with a mission to find a cure for those affected by pancreatitis – recently launched a Pancreatitis PerlQuest partnership. Ethan covers the backstory of this partnership – from the initial intro to...