Category Archive: Rare disease

Dec
15

A year in publications – 2014

A year in collaborative publications, the ups and downs and a few random comments as well (with a big thanks to all involved): 1. Ekins S and Freundlich JS and Coffee M, A common feature pharmacophore for FDA-approved drugs inhibiting the Ebola virus, F1000research, 3: 277, 2014. This came initially from a Twitter exchange of …

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Nov
12

Giving and taking my own advice on starting a company

I have a tendency to agree to other peoples good ideas to do things and then it catches up with me. You know that feeling of massive over commitment. Well I started to say NO a lot more frequently. I say no to all manner of requests to answer questionnaires, review for journals from publishers …

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Aug
18

Rare diseases collection at F1000Research

I have mentioned previously that I have the honor to edit a collection of articles for F1000Research. So here is your chance if you are in the rare disease community and you have something you want to publish..do it now! Having published previously in F1000Research with collaborators I found the process was simple compared to …

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Aug
15

Déjà vu – Another family affected by a rare disease trying to find a cure

During my trip to San Francisco this week I had the opportunity and honor to meet with Matt Wilsey, one of the parents of a child (Grace) with a rare disease and the President of the Grace Wilsey Foundation. The diagnosis of Grace’s NGLY1 deficiency was recently highlighted in an excellent article in the New …

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Aug
11

ACS in San Francisco..6 talks and a poster

For a few days I am in SF presenting several talks ..In all but one case I plan to post the talks.. Yesterday’s talk was on collaborations. The prior speaker did not turn up so I gave it twice. Today I gave two presentations. One on TB mimics. This work is subject to some papers …

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Jun
19

Itching to get back in the lab

I thought I might never want to do this again, but a confluence of circumstances is making me want to do something. I am itching to get back in the lab. One day. My last wet lab experiment was in 1998, sure I have managed others since then that did  experiments in my lab, or …

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Jun
11

Rare Occurrence Reception

Jill Wood from Jonah’s Just Begun has a cocktail event planned in New York next week to raise money to fund a postdoc in one of the labs doing Sanfilippo syndrome research. This is obviously something I am very close too.  It just shows the willingness and generosity of those involved to help out (Jonny …

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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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May
07

Talks and poster for the next ACS meeting

I put a few abstracts left over from the last meeting in Texas into the ACS for the San Francisco meeting and so I will be busy in the coming months preparing for this. see you in San Francisco, California, August 10-14, 2014. PAPER ID: 22104 PAPER TITLE: “Collaborative Sharing of Molecules and Data in …

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May
06

How open publications could help rare diseases – why it needs a shake up

Working with the Hereditary Neuropathy Foundation (HNF) on Charcot-Marie-Tooth and related diseases, we have started to put out quaterly updates to highlight research being funded and also fundraising efforts. The latest update covers some research using Zebrafish. This also set in motion a bit of thought a few weeks ago on open publications. If you …

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