Tag Archive: rare disease

Jul
11

Experience with Reddit Science AMA

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 …

Continue reading »

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 …

Continue reading »

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 …

Continue reading »

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, …

Continue reading »

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 …

Continue reading »

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 …

Continue reading »

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 …

Continue reading »

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 …

Continue reading »

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  …

Continue reading »

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 …

Continue reading »

Older posts «