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 Feba Sam | Jul 10, 2018 | Science |
At Perlara, we work to find therapeutics for rare genetic diseases. We develop and use immunoassays, phase contrast imaging, as well as enzymatic assays, in order to screen thousands of compounds and obtain hits from cell readouts to complement our model organism...
by Feba Sam | Dec 11, 2017 | Perlara science |
The Condition: Mucolipidosis Type IV Mucolipidosis is a group of inherited lysosomal storage disorders characterized by aberrant storage and accumulation of lipid vesicles in patient cells. Mucolipidosis type IV (MLIV) is a rare genetic lysosomal storage disorder that...
by Feba Sam | Feb 1, 2017 | Perlara science |
I, along with Nina, performed our first high-throughput screen – well really medium-throughput but high-throughput for us – on Niemann-Pick Type C (NPC) patient-derived fibroblasts a couple of months back. We wanted to do a pilot screen with the Microsource bioactives...
by Feba Sam | Oct 29, 2016 | Perlara science |
High throughput screening (HTS) is essential in the process of finding a potential drug candidate, and automation is key for a good screen both in terms of robustness and efficiency. I kept hearing about the Echo since the day I joined Perlara, but it was only until a...
