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 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...
by Naz Dana | Oct 4, 2018 | Rare Diseases |
The Global Genes 2018 RARE Patient Advocacy Summit – one of the key events in the rare disease world – wraps up today. As the largest worldwide gathering of rare disease patients, advocates, and thought leaders, the summit brought together over 100 experts, who led...
