Grab me a pint (of science!)

by | May 20, 2022 | Rare disease world

Last week, the Beacon team headed out to paint the town red and get drunk on knowledge at Pint of Science.

In case you’ve never heard of it before, Pint of Science is a worldwide science festival that brings researchers to local spaces to share their scientific discoveries with you – with no prior knowledge required. It’s all about making science more accessible to everyone, which can only be a good thing in our books.

The Projects Team hit up the session at the Espresso Library in Cambridge on Monday the 9th May entitled: ‘Not all genes are equal,’ which featured talks from scientists Dr Giles Yeo and Dr Miguel Constância. The session was sponsored by Cambridge Rare Disease Network (CRDN), meaning a big focus on rare diseases!

The session was designed to make attendees think about the differences in our genes and how these can not only contribute to each person’s unique physical features, but also fundamentally affect our relationship with our daily life, habits and experience of health. We also explored rare imprinted genes (a special class where one parental copy is switched off) and the life-long impact this can have.

Giles took to the floor to prove to us why obesity, what we weigh and our relationship with food is not a choice. In fact, whether we can fit into our jeans one month and not the next can have an overwhelming amount to do with what’s in our genes. He introduced us to leptin, a protein produced by fat cells that is a hormone acting mainly in the regulation of appetite and fat storage, and taught us what happens in the body when people have too little or no leptin.

Spoiler:  Their bodies think that they are starving, which causes them to gain a lot of weight. He also showed us the evolutionary perspective behind this, namely in the form of the blind mexican cave fish, which needed to develop insatiable appetites in order to survive on the measly number of unlucky plankton that may float by and become dinner for the cave fish who had been evolutionarily trained to be forever hungry.

Next up, Miguel introduced us to the idea of epigenetics, which is the study of how your behaviour and environment can cause changes that affect the way your genes work. Epigenetic changes are reversible and do not change your DNA sequence, but rather how your body reads a DNA sequence (cool, right?) It is a rapidly growing area of science, so it was really interesting to learn about some of the latest developments in real time. Miguel explored what happens when the only active copy of imprinted genes is deleted, mutated or silenced due to epigenetics and what happens if the silent copy of imprinted genes becomes activated.
Both talks really highlighted how important it is for us to understand genetics and the ways that they can be disrupted; not only to gain a better understanding of the diseases themselves, but also to better understand genetics and diseases as a whole. Rare diseases are in fact fundamentally important.

See what the Projects Team had to say about it!

Philippa, our Senior Projects Officer

“I kind of gave up actually learning new things about science at school, so it was really interesting to have the opportunity to learn something new in an accessible way and realise that I have actually learned more than I thought in my time at Beacon. I think the fact that understanding rare is so essential to understanding more common diseases is such an important thing to remember and should be carried through in our awareness raising and advocacy for rare diseases. It was also great to be back in a room with people who all shared similar interests. I also enjoyed our catch up lecture on genetics given by Sophia in the office the next day!”

Hannah, our Projects Officer

“As someone who works in rare disease, but doesn’t have a scientific background, having the opportunity to learn more about genes (especially as 80% of rare disorders are genetic) was really valuable. I enjoyed hearing Dr Giles Yeo speak about how our genes affect how much we eat and how differences in our genetic make-up mean some humans are hungrier than others. What I found particularly interesting about both talks during the evening was the fact that although most people think rare equals scientifically insignificant, actually understanding how rare diseases work is fundamental to our wider understanding of all genetics and genetic diseases.”

Mary Rose, our Chief Operating Officer (COO)

“I really enjoyed Pint of Science. It was so nice to finally be attending something in-person; it makes such a difference to the overall experience! Giles and Miguel both gave fascinating talks and really made an effort to deliver them in accessible, relatable and entertaining ways – a must for this kind of event. I particularly enjoyed Giles’ talk on the impact of our genetic make-up on body weight.

Obesity is, unfortunately, a subject which is often met with a lot of stigma; people are often seen as lazy or not trying hard enough to lose weight. Giles made it clear that this is not the case, demonstrating how subtle variations in our genes could make substantial differences in our body weight. However, as a result of these negative attitudes, many people do not get the appropriate care or advice they need – something which is also common in rare diseases. Giles’ take home message was to stress the need for further education and awareness, both for the medical professional and wider public.’

Thank you for having us Pint of Science!

Cheers to the many pints of knowledge and discussion.

Until next time!