Science Online 2011

Science Online London 2011

It is hard not to get carried away in a room full of people who seem mostly to want the same things. You come away from a conference like Science Online thinking that the open science revolution is inevitable, and there is nothing anyone can do to stop it. Then you get back to your day job and talk of REF and impact factors and get bought back to earth with a bump.

#solo11 tweets

Word Cloud of #solo11 Tweets (tagxedo.com)

The take home message of the conference this year seemed to be this: for open science to work, long term, reward mechanisms within the profession have to change in a comprehensive and profound way. Do I think this is possible? Of course. Do I think this is inevitable? Not by a long chalk. There are too many parties with a vested interest in things remaining the same, some of whom were represented here, despite all of the talk being about openness.

NPG certainly don’t seem that interested in opening things up too far, as the breakout session on APIs demonstrated. Nothing outside of their paywall was discussed, even more broadly applicable tools, like Connotea, seem to be quietly dropped in the background. The research councils are still more interested in “impact” (whatever that means) than genuinely original thinking.

But for all this pessimism, there are interesting things happening, and a mainstream breakthrough becomes more likely as the volume of those agitating for change grows. MaryAnn Martone‘s keynote was genuinely inspiring, a clear case for breaking down the garden walls. Michael Nielsen made a compelling case for wholesale revolution (however unlikely I think this sort of change may be). We showed that in an afternoon, you can set up a collaborative blog and populate it with interesting scientific content, using freely available tools. The interest we always encounter for the Knowledgeblog project enthuses me, and encourages me that something similar will make hay someday soon (even if we don’t manage to be the people who make the breakthrough).

It may be difficult for me to get to SoLo12, but I will try very hard to return, because I always leave with a smile on my face.

Salbutamol promotes SMN2 expression

This is a cross-post from the Blogging for Science Online London group blog. During the Saturday workshop at Science Online London 2011, a bunch of us wrote content relating to Spinal Muscular Atrophy. My post was a short summary of a small scale drug trial, which shows promising results.

This is a summary of a paper that shows that Salbutamol promotes SMN2 expression in vivo [cite]10.1136/jmg.2010.080366[/cite].

Patients with Spinal Muscular Atrophy (SMA) have no functioning copy of the gene SMN1. The SMN2 gene can theoretically function in its place, but a change in this gene means that only a small amount of functional protein is produced from the gene.

It is therefore suggested that any intervention that can increase the level of functional SMN2 transcript could well be effective as a treatment for SMA.

Salbutamol is a short acting beta-adrenergic agonist that is primarily used for treating asthma. A previous study [cite]10.1136/jmg.2007.051177[/cite] has shown that Salbutamol is effective in raising SMN2 full length (SMN2-fl) levels in cultured SMA fibroblasts.

Figure 1

In this study, the researchers administered Salbutamol to 12 patients with SMA, and measured the levels of SMN2-fl 3 times (0, 3 and 6 months). The levels of SMN2-fl were significantly increased in all but 3 patients after 3 months (average increase of 48.9%), and in all patients after 6 months (average increase of 91.8%). They also showed that patients with more copies of the SMN2 gene (some patients had 3 copies, some had 4) showed a larger response to Salbutamol treatment. This increase in expression cannot be explained by normal fluctuations over time in these patients, since studies have shown that levels of SMN2-fl are usually stable over time [cite]10.1212/01.wnl.0000252934.70676.ab[/cite] [cite]10.1038/ejhg.2009.116[/cite]. Clearly the big question now is whether this molecular response to the drug is reflected in a beneficial clinical response in the patient. This study does not address this question, but does propose that a full double-blind, placebo controlled trial should be carried out to ascertain whether or not this treatment is effective in treating the symptoms of SMA.

ResearchBlogging.orgTiziano, F., Lomastro, R., Pinto, A., Messina, S., D’Amico, A., Fiori, S., Angelozzi, C., Pane, M., Mercuri, E., Bertini, E., Neri, G., & Brahe, C. (2010). Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design Journal of Medical Genetics, 47 (12), 856-858 DOI: 10.1136/jmg.2010.080366