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 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...
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...
