The Ark
A blog about our science, the rare disease community and PerlQuests
Perlara Events – January 2019
Last June, we launched Perlara On the Go, a monthly post updating you on upcoming...
Conducting a GNAO1 yeast screen
As discussed in a previous post, we are currently working on a GNAO1 PerlQuest...
Modeling Pompe disease in flies
Here at Perlara we are excited to announce our probe into Pompe disease which, along...
Last month in tweets – November 2018
Hello readers! Last month, we resurrected the old Perlara tradition of recapping the...
Perlara Events – December 2018
In June, we launched Perlara On the Go, a monthly post updating you on upcoming...
Developing an NPA patient fibroblast screen
Niemann-Pick Type A (NPA) affects about 1 in 250,000 individuals, with a higher...
PMM2-CDG preprint figures – part 2
This is a continuation of a previous post, which covered Figures 1 – 4 of Perlara's...
PMM2-CDG preprint figures – part 1
Last September, we submitted Perlara’s second preprint to bioRxiv describing our...
2018 Global Genes Summit recap
In October, Ethan, Nina and I attended the 2018 Global Genes RARE Patient Advocacy...
Perlara Events – November 2018
In June, we launched Perlara On the Go, a monthly post updating you on upcoming...
Last month in tweets – October 2018
Hello readers! We’re resurrecting an old Perlara tradition of recapping the previous...
Grace Science Foundation’s 2018 NGLY1 Conference recap
This past summer was a rare disease conference-palooza. In July, I attended the 2018...
