Tag Archive: rare diseases

Jun
10

A priceless opportunity to submit an article on rare diseases

It has been a while since I posted something of note and in that intervening period as it happens some “opportunities” were put in front of me. Many of these have consumed my time, e.g. writing a year end report for a grant, a new collaborative project which spawned a couple of manuscripts, and of …

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Apr
16

Landmark study on fibromuscular dysplasia may point to potential treatments

Nearly two months ago I wrote briefly about the rare disease fibromuscular dysplasia (FMD) for which there has been virtually no information on disease mechanism published for 40 years. Yesterday Sarah Kucharski (FMD Chat, CEO/Chairman & Founder) pointed me to a brand new paper from Dr. Nazli McDonnell et al (National Inst of Aging) . …

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Mar
11

What would you do with the NIH budget of $30.2bn?

A few weeks ago I wrote of a possible nightmare scenario if Pharma stopped funding research. I was reminded of this today for a whole other reason. I was reading an article by Alex Philippidis over at Genetic Engineering and Biotechnology News which discusses the proposed 1% budget increase for the NIH and also the …

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Mar
10

Paying to see conference abstracts for a rare disease conference..

I was updating my CV and realized that a couple of abstracts submitted for the World Symposium (on lysosomal diseases) in 2013 and 2014 are published in Molecular Genetics and Metabolism. This year there were 282 such abstracts published and I know that because I along with every attendee could take home a copy of …

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Mar
05

Adding new diseases to the ODDT App

Perhaps not surprisingly with all the activity around Rare Disease day over the last month, I have focused on this and it does not appear to be slowing down in terms of momentum. I was contacted today by a representative of a rare disease foundation to request adding their disease into the ODDT app. Over …

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Feb
26

A rare disease a day: Rett 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, …

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Feb
20

A rare disease a day: Giant Axonal Neuropathy

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 Syndrome, …

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Feb
19

A rare disease a day: Huntington’s disease

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 Syndrome, …

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Feb
13

World Symposium day 3- clinical trials for rare diseases

It’s day 3 of the World symposium. A meeting with mostly 15 min presentations running from 8am to 4.30pm with breaks and lunch. It runs like clockwork and virtually every talk had good questions. Yet the most annoying thing I can say about the meeting is that they excessively use music and cut off the …

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Feb
12

World Symposium 2014

This week I am in Sunny San Diego for the World Symposium 2014, which is focused on the Lysosomal Disease Network. The days are full of 15 minute talks and no parallel sessions. There is a good mixture of younger and established scientists presenting, although the quality is OK, there are some useful talks to …

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