It is with great sadness that today’s post is dedicated to the memory of Benjamin Alexander Siedman. His foundation Ben’s Dream – The Sanfilippo Research Foundation has done so much to fund research and raise awareness of the disease which will be the focus of this installment of A rare disease a day (following on …
Tag Archive: rare disease
Feb
05
A rare disease a day: Tay-Sachs
Continuing the rare disease a day theme started with Hunter Syndrome, and Gaucher’s disease, today the topic is Tay-Sachs which is a also known as GM2 gangliosidosis or hexosaminidase A deficiency. Tay Sachs is a rare autosomal recessive genetic disorder and extensive information can be found online. Tay–Sachs disease is classified into several forms, differentiated based …
Feb
04
A rare disease a day: Gaucher Disease
Continuing the rare disease a day theme started yesterday with Hunter Syndrome, today the focus is on Gaucher disease (also called Gaucher’s disease). This is the most common autosomal recessive lysosomal storage disease. It is caused by mutations in the beta-glucocerebrosidase gene GBA1 and results in the build up of glucosylceramide in in the spleen, …
Feb
03
A rare disease a day: Hunter Syndrome
February is a pretty big month for several reasons. First there is the World Symposium 2014 in San Diego (Feb 10-13) which focuses on Lysosomal Storage Diseases (LSDs). Then at the end of the month is the NIH rare disease day (Feb 28). I will be attending these events and presenting posters. So in honor …
Jan
28
Readying for a busy Rare Disease month
February I will be at World Symposium 2014 to represent the various rare disease groups I have been working with, but more generally I will be interested in the progress this community has made since the meeting last year. I will be presenting one poster on the ODDT app and how it has grown to …
top chemistry websites
