Last 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 for Perlara On the Go January 2019!   Upcoming Events 37th annual J.P. Morgan Healthcare...

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 range of neurodevelopmental disorders. In yeast, the GNAO1 ortholog is GPA1, and in our...

Here at Perlara we are excited to announce our probe into Pompe disease which, along with Cori disease, comprise our glycogen storage disease PerlQuest. For this project we will be collaborating with the Warren Center at the University of Notre Dame. Our goal is to develop an accurate Pompe disease fly model, and to test a select group of candidate...

Hello readers! Last month, we resurrected the old Perlara tradition of recapping the previous month through tweets. It’s a monthly roundup of what happened at Perlara – new partnerships, staff news, events that Perlara team members attended, and anything else that was tweet-worthy. Catch up on November 2018 in tweets!    November 2018 in tweets: ...

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 for Perlara On the Go December 2018!   Upcoming Events Curing Pancreatitis – It’s...

Niemann-Pick Type A (NPA) affects about 1 in 250,000 individuals, with a higher frequency in individuals of Ashkenazi Jewish descent, where it’s about 1 in 40,000. NPA is caused by a mutation in the SMPD1 gene, a gene encoding acid sphingomyelinase which, when mutated, stops the conversion of sphingomyelin into ceramide. This causes an accumulation...