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 Aras Rezvanian | May 23, 2018 | Science |
One of the rare genetic disorders that we at Perlara have been working on is Mucolipidosis type IV (MLIV) – one of the Mucolipidosis group of inherited lysosomal storage disorders. For background on MLIV, and to learn more about our work in optimizing a MLIV drug...
