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...
by Ethan Perlstein | Aug 11, 2018 | Rare Diseases |
In late June, I attended the Mucolipidosis Type IV Foundation’s ML4 Family and Research Conference in Atlanta. It was my first time attending and presenting at this intimate, biennial gathering of families, scientists and physician scientists, some of whom have known...
