Category Archive: Rare disease

Apr
17

Finally after 18 years – Time for a Research Statement

Its been something I continually grapple with. As a non academic doing a diverse range of scientific projects how could I come up with a vision statement (if indeed I needed one as I have managed for 18 years without one). A few days ago I put a research statement together. I think it basically …

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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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Apr
15

Postdoc position available – Phoenix Nest and LA BioMed/Harbor-UCLA

Yesterday our posting for a postdoc position on ScienceCareer jobs went live. My emails are going to go into overload.. Its a long story which I will save you from for now. In my effort to help on Sanfilippo Syndrome research Jill Wood (Jonah’s Just Begun) connected me with Dr. Patti Dickson, MD (LA BioMed/Harbor-UCLA). …

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Apr
09

Publishing on rare diseases with F1000Research

This little post starts with a little matter of writing the RDCRN grant proposal on CMT and GAN last year with my colleagues Lori Sames, Allison Moore and Renee Arnold. Pretty soon after finishing this we realized we had written so much text that maybe we should write an opinion piece for a journal so …

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Mar
28

Accessing gene expression-small molecule databases funded by the NIH or others

So here is a challenge which I am sure many people face. An academic does an experiment and finds a particular protein A-protein B interaction in vitro which may be important in a disease. How do you go about finding molecules to test experimentally that might up or down regulate protein B  ? Fortunately there …

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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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Mar
04

A little video on Open Drug Discovery Teams (ODDT)

While at the recent World Symposium meeting on Lysosomal Diseases, Jim Radke from Rare Disease Report interviewed me on the ODDT app. Here is the video. A big thank you for helping spread the word.

Mar
03

A storify of my Rare disease day tweets

Friday I was at the NIH for rare disease day – here is my Tweet storify. [View the story “Rare disease day” on Storify]

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