Feb
11
Following on from past installments of “A rare disease a day” Hunter syndrome, Gaucher disease, Tay-Sachs, Morquio syndrome, Fabry disease and Sanfilippo syndrome it is now the turn of Krabbe Disease. Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is an often fatal degenerative disorder affecting the myelin sheath of the nervous …
Feb
07
Day 5 of ‘a rare disease a day’ following on from Hunter syndrome, Gaucher disease, Tay-Sachs, and Morquio syndrome it is the turn of Fabry disease (which is also known as Fabry’s disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency). The disease is caused by a deficiency of the enzyme alpha galactosidase A …
Jan
16
For the last 4 years I have been the fortunate recipient of a calendar. This is not just any calendar and of course it has some link to pharmaceuticals. This one has been carefully tightly wrapped in a sheet of beige paper and sent on its journey thousands of miles by my friend Dr. Tomoko …
Sep
05
Sometimes you meet people that truly inspire you to do more, question what you have been doing and rethink your goals in life. But when you meet three of them in a short space of time you realize that something transformative is happening. In the space of two years three non-scientists have overtaken all my …
