by Feba Sam | Nov 15, 2018 | Rare Diseases |
In October, Ethan, Nina and I attended the 2018 Global Genes RARE Patient Advocacy Summit, held in Irvine, CA. This was the 7th annual gathering of rare disease patients, advocates, and researchers, and the largest gathering of the rare disease community worldwide....
by Ethan Perlstein | Oct 25, 2018 | NGLY1 |
This past summer was a rare disease conference-palooza. In July, I attended the 2018 NGLY1 Conference, hosted by Grace Science Foundation (GSF) in Palo Alto. It was the 5th gathering of families and scientists from around the world, united behind one goal: to find a...
by Nina DiPrimio | Oct 17, 2018 | GSD III |
I’m happy to announce that the Perlara family has grown! We recently launched a new PerlQuest for glycogen storage disease type III (GSDIII) – also known as Cori disease – in collaboration with Richard Taylor of the Warren Center and the University of...
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...
