by Gabriela Colmenares | Dec 20, 2018 | GNAO1 |
As discussed in a previous post, we are currently working on a GNAO1 PerlQuest collaboration with the Undiagnosed Diseases Network (UDN) and Harvard Medical School. GNAO1 is a gene that encodes for the alpha subunit of a G protein, and mutations in this gene lead a...
by Jessica Lao | Nov 19, 2018 | PMM2-CDG |
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...
by Jessica Lao | Nov 19, 2018 | PMM2-CDG |
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...
by Jessica Lao | Oct 19, 2018 | Rare Diseases |
The 2018 Yeast Genetics Meeting (#Yeast18) was held in August at Stanford University in Palo Alto. I learned about the latest developments in research and advances in tools and technology, reconnected with former colleagues, and established new connections and...
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...
