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 Aras Rezvanian | Nov 30, 2018 | Niemann-Pick Type A |
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...
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 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 Nina DiPrimio | Oct 11, 2018 | Sanfilippo syndrome |
Hello readers! I’m eager to share some news with you: Perlara has signed new PerlQuests! One of our latest drug discovery efforts is a mucopolysaccharadosis (lysosomal storage diseases MPSIIIA and MPSIIIB) collaboration with Cure Sanfilippo Foundation...
