Wednesday, 27 January 2016

Let's talk science!


Nothing in science has any value to society if it is not communicated’ 
– Anne Roe, The Making of a Scientist (1953).

As relayed in the quote above, communicating scientific research to the general public is immensely valuable and something we particularly strive to do at SITraN. Since starting my PhD in 2013 I have been inspired by the amount of outreach carried out in the department and personally I have been lucky enough to get involved in several outreach projects to communicate areas of my own research, including neuroscience, motor neurone disease (MND) and zebrafish research.

Talking about my zebrafish and MND research to A-level students.

A particular highlight over the past couple of years has been organising a workshop for the Discover STEM programme at the University in conjunction with the University’s aquarium, based at the Bateson Centre. As part of the programme, students from the region visit the University during their sixth form to take part in subject specific workshops in the Science and Engineering faculties. Students who take part in the scheme will be the first in their family to attend University and are from schools and/or postcodes where there is generally a low progression rate to higher education. Postgraduate students like me help to develop and deliver these sessions. It is a great opportunity for the students to experience research carried out at the University and hopefully inspire them to consider a scientific career in the future. 


The zebrafish embryos are transparent and ideal to investigate
early development of the nervous system.

The session I developed focussed on zebrafish and MND research at the University, which is the focus of my own PhD. The first half of the session consisted of a ‘mini-lecture’ where I discussed how I got into doing a PhD and background into the research I do. The second half of the session involved rotating the students round different lab-based practical stations – training them to be future zebrafish researchers. To name but a few things, they had tours around our aquariums, learned how to collect new born zebrafish embryos and used the microscopes to look at zebrafish at different stages of development.



A tour around the zebrafish aquariums at the Bateson Centre.








By the end of the session the students had a taste of what it is like to be a researcher working with zebrafish, an understanding of MND and information on the MND Association who fund my research. I was exceptionally pleased with the feedback I received from all the students, with 76% scoring the workshop 8/10 or more. 


Looking at zebrafish under the microscope.

Not only has being involved in outreach allowed me to teach the general public about research at the university, it has also enabled me to develop a deeper understanding of my own work. After all ‘you don’t really understand something unless you can explain it to your grandmother’ (quote, attributed to Albert Einstein) – or a class full of A-level students!


By Natalie Rounding


Natalie is an MND Association funded PhD student in Andy Grierson’s team, working on a new zebrafish model for MND. You can follow her on Twitter @natalierounding.








Wednesday, 13 January 2016

Sharing perspectives on rare diseases between families and clinicians


On the 20th November SITran hosted a study day on rare diseases. A rare disease is defined as one which affects less than 1:2,000 people. While rare diseases are individually uncommon, the large number of rare diseases (>6 000) means that they collectively affect a significant proportion of the population, 1 in 20 people by some estimates.The study day was designed to allow dialogue between rare disease clinicians and families affected by a rare disease.



  
The Sheffield hospitals (Royal Hallamshire, Northern General and Sheffield Children’s Hospital) collectively provide clinical services for a wide range of rare diseases and Sheffield clinicians gave several talks. Dr Meena Balasubramanian spoke to the audience about how rare genetic forms of “brittle bone disease” (osteogenesis imperfecta) are diagnosed and treated. Dr Oliver Quarrell discussed Juvenile Huntington’s disease and models of care for this. We were also fortunate to host Dr Brian Wilson, Great Ormond Street Hospital, who gave a talk on how to work with patient support groups to facilitate research, and Dr Marion McAllister, Cardiff University, who described methods of measuring the clinical value of genetic counselling. Representatives of the Syndrome without a name charity (http://undiagnosed.org.uk/) gave powerful accounts of their experience of living with children who have a rare disease for which a diagnosis has not been reached. 





In the afternoon there was an informal discussion group, facilitated by Rosie Duncan, Sheffield University, with family members on the challenges of living with a rare disease. Several important points emerged from this. Families felt they had considerable expertise on their relatives’ illness and wished clinicians to pay more attention to their opinions. It was felt that it would be more useful to involve families in the design of clinical services and training of clinicians. Family members expressed the feelings that it was frustrating to have to repeatedly recap their relative’s medical history to different medical teams, and that clinicians should read notes fully before appointments. Patient support groups were felt to be very valuable, especially for “signposting” further sources of help. The general points to emerge from the discussion were fed back to the whole group at the end of the meeting to help clinicians understand the perspective of families affected by rare disease. 




The meeting was generously funded by the SPARKS childrens charity 
(https://www.sparks.org.uk/) and Kindness for kids (http://www.kindness-for-kids.de/). The SPARKS grant enabled us to provide travel and accommodation for our external speakers and family members attending for the day. The Kindness for Kids grant enabled us to hire the venue, pay for lunch and coffee breaks. This meeting would not have been possible without the generous funding of these two charities and I thank them.


By Dr Alisdair McNeill



Alisdair is a Senior Clinical Research Fellow in Neuroscience & Clinical Genetics research at @INSIGNEO & SITraN groups and a Honorary Consultant in Clinical Genetics at the Sheffield Children's Hospital. You can follow Alisdair on Twitter @am_sheffgenet and on Researchgate.