Rare diseases by definition are infrequent but they are frequently devastating for patients and their families and can affect people from birth to old age. The Pfizer Rare Disease Consortium inaugural symposium which I was able to attend in part last week was a good opportunity to reconnect with some of my previous colleagues in pharmaceutical R&D as well as academia.
I was pleased to able to catch up on work being done by former collaborators on both Duchenne Muscular Dystrophy (Kay Davies) and Amyotrophic Lateral Sclerosis (ALS, Chris Shaw). Genetics is challenging our traditional categorisation of diseases showing overlaps in pathology and genetics of diseases such as ALS and Frontal Temporal Lobe Dementia where the phenotype, initially at least, seems to be very different. The Rare Disease Consortium also seems to be a very interesting model for bringing together not only academics and industry but also different academic institutions. More and more of these types of alliances are being initiated and I think there will be real opportunities for sharing best practice in how to get the most of such multi-organisational initiatives.
Last week the BBSRC committee meetings were held at The University of Warwick campus and I was able to sit in on each of the committees. First I want to give a big ‘Thank You’ to all the members of these committees and also the reviewers who submit reviews. Collectively the Research Councils and universities have to find a way of recognising the importance of these contributions, as without it, the funding process would grind to a halt.
At these meetings we discussed how we could help researchers understand more about the review process, what makes a good grant and the potential for observers at the committee meetings to help with this. Given that our statistics (PDF) have indicated that women are slightly less successful than men even after taking account of the fact that they submit fewer grants, we also said to panels that we will be putting into place unconscious bias training for all out committees and boards. This will also be happening for BBSRC Council and the executive team. We will also be carrying out some root cause analysis of the reasons for the lower submission rates and would be interested to work with universities on this.
In terms of unconscious bias I have mentioned Project Implicit before in this blog but recently my daughter drew my attention to an excellent presentation by Google Ventures on unconscious bias – the whole presentation is worth seeing but the first 15 minutes are particularly valuable.
Indeed as scientists we seem to be pretty interested in studying diversity in organisms except when it comes to ourselves. It was therefore good to see diversity as a topic for a Nature editorial (Nature 2014 513:279) with a special issue on the topic published jointly with Scientific American.
They make the important point that diversity in all its forms – gender, sexuality, ethnicity, disability – has been shown to benefit science. It has long been cited that diversity in the boardroom increases the profitability of companies, but little research has been done to show that it improves scientific quality. Examples in the issue showed how looking at ethnically homogenous populations produces outcomes that may not be applicable across ethnicities and an analysis of 2.5M papers by Freeman and Huang found that those papers with surnames suggesting a range of ethnicities were more highly cited. The reasons for the latter finding are unclear but must surely be of interest for further research. There is also a moving account by a young neuroscientist who discovered he had Parkinsons disease at the age of 36.