Today I took part in a Reddit Science Ask Me Anything (AMA). I had been invited to do this by the nice folks at Springer so I chose rare diseases as my topic and had 100s of questions to answer. This naturally took far longer than 1hr to answer. Generally a good mix of topics …
Tag Archive: rare disease
May
31
New grants for Phoenix Nest Inc. and LABioMed for Sanfilippo Syndrome treatment development
I can now report some very good news for Phoenix Nest Inc in our efforts with our wonderful collaborators at LABioMed – we now have a couple of grants to work on treatments for Sanfilippo B and D. It would be great if we could find VC or angels that would help us get these …
Feb
28
A rare disease a day: Multiple System Atrophy
Today I am live tweeting from the NIH, for Rare Disease Day. In honor of rare disease day this week, I am raising awareness of some of the rare diseases as brief posts. Following on from past installments of “A rare disease a day” Hunter syndrome, Gaucher disease, Tay-Sachs, Morquio syndrome, Fabry disease, Sanfilippo syndrome, Krabbe Disease, Niemann-Pick Disease, Batten disease , Hurler Syndrome, Charcot-Marie-Tooth, Fibromuscular dysplasia, Huntington’s …
Feb
27
A rare disease a day: Glucose Transporter Type I Deficiency Syndrome
In honor of rare disease day this week, I am raising awareness of some of the rare diseases as brief posts. Following on from past installments of “A rare disease a day” Hunter syndrome, Gaucher disease, Tay-Sachs, Morquio syndrome, Fabry disease, Sanfilippo syndrome, Krabbe Disease, Niemann-Pick Disease, Batten disease , Hurler Syndrome, Charcot-Marie-Tooth, Fibromuscular dysplasia, …
Feb
25
A rare disease a day: Lowe Syndrome
In honor of rare disease day later this week, I am raising awareness of some of the rare diseases as brief posts. Following on from past installments of “A rare disease a day” Hunter syndrome, Gaucher disease, Tay-Sachs, Morquio syndrome, Fabry disease, Sanfilippo syndrome, Krabbe Disease, Niemann-Pick Disease, Batten disease , Hurler Syndrome, Charcot-Marie-Tooth, Fibromuscular …
Feb
24
A rare disease a day: Amyloidosis
In honor of rare disease day later this week, I am raising awareness of some of the rare diseases as brief posts. Following on from past installments of “A rare disease a day” Hunter syndrome, Gaucher disease, Tay-Sachs, Morquio syndrome, Fabry disease, Sanfilippo syndrome, Krabbe Disease, Niemann-Pick Disease, Batten disease , Hurler Syndrome, Charcot-Marie-Tooth, Fibromuscular …
Feb
18
A rare disease a day: Fibromuscular dysplasia
In honor of rare disease day, I am using my Monday-Friday posts to raise awareness of some of the rare diseases as brief posts. Following on from past installments of “A rare disease a day” Hunter syndrome, Gaucher disease, Tay-Sachs, Morquio syndrome, Fabry disease, Sanfilippo syndrome, Krabbe Disease, Niemann-Pick Disease , Batten disease , Hurler …
Feb
17
A rare disease a day: Charcot-Marie-Tooth disease
In honor of rare disease day, I am using my Monday-Friday posts to raise awareness of some of the rare diseases. Following on from past installments of “A rare disease a day” Hunter syndrome, Gaucher disease, Tay-Sachs, Morquio syndrome, Fabry disease, Sanfilippo syndrome, Krabbe Disease, Niemann-Pick Disease , Batten disease , Hurler Syndrome the focus …
Feb
13
A rare disease a day: Batten Disease
Following on from past installments of “A rare disease a day” Hunter syndrome, Gaucher disease, Tay-Sachs, Morquio syndrome, Fabry disease, Sanfilippo syndrome, Krabbe Disease, Niemann-Pick Disease it is now the turn of Batten Disease. Batten disease (also known as Spielmeyer-Vogt-Sjögren-Batten disease) is a an autosomal recessive neurodegenerative disorder that begins in childhood. The incidence is …
Feb
12
A rare disease a day: Niemann-Pick Disease
Following on from past installments of “A rare disease a day” Hunter syndrome, Gaucher disease, Tay-Sachs, Morquio syndrome, Fabry disease and Sanfilippo syndrome, Krabbe Disease it is now the turn of Niemann-Pick Disease. In Niemann–Pick (NP) disease sphingomyelin accumulates in lysosomes. Mutations in the SMPD1 gene cause Niemann–Pick types A and B preventing the body …
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