STP Electives | Frankie

One of the best parts of my STP experience so far has been my elective, it’s a great way of getting away from the work you do every day and gaining new perspectives on healthcare science. My elective ended up being a series of small things rather than a big 4 to 6-week elective, mostly because of time constraints (N.B. getting married during the STP is STRESSFUL) but also because the larger placement that I wanted to do fell through.

My objectives

Before embarking on your elective project, you have to set some objectives. I started with some quite broad ideas of what I wanted to get out of my project and from there worked out how to achieve this.

My first objective was to find a way for me to keep my mind on patients during my day-to-day work. As a trainee in genomics, I have no patient contact, so it’s easy to become disconnected from the patients who our work will affect, and see them only as tubes of blood or DNA. Because of this, I wanted to find a way to connect with patients and gain experiences that I would take with me throughout my career.

In order to do this, I decided to try and find a rare genetic disease charity and see if I could spend some time with them and see how their work can directly influence patients and also how it benefits healthcare scientists working in genetics.

I also wanted to gain experience in science communication to the public and develop my skills in describing what I do to the general public.

The Lily Foundation

As you can imagine, I e-mailed quite a few genetic disease charities in order to organise a placement and one of the ones that replied was the Lily Foundation. The Lily Foundation is a charity for a group of rare genetic disorders known as mitochondrial disease.

Mitochondrial disease describes conditions that affect the function of the mitochondria, organelles present in almost every cell in the human body and make the energy our cells need to function. They also carry their own DNA that codes for key components that keep them working properly. If this DNA is damaged through mutation, the mitochondria don’t work, meaning our cells can’t make the energy they need to function properly. But mitochondrial diseases can also be caused by mutations in the cell’s nuclear DNA, which makes finding a genetic diagnosis notoriously difficult. I was also working on the diagnosis of mitochondrial disease for my research project, so working with Lily Foundation was right up my street!

The Lily Foundation puts on many fundraising events throughout the year, ranging from their annual charity ball (which usually has celebrity patrons) to supporting small group and individual fundraising events such as bake sales and sporting events. Not only does this raise funds for the charity, but it also raises awareness if mitochondrial disease in the general population and in the medical community.

The charity uses these funds to help patients and families cope with mitochondrial disease by helping to buy specialist equipment that is not available on the NHS, helping with disability benefit applications and funding family holidays away through a partnership with Centre Parks.

As well as directly helping families, a lot of the funds raised are fed into research looking into new diagnostic techniques, treatments and therapies for mitochondrial disease.

On my elective, I was able to gain experience in both parts of their work.

Research

I was lucky enough to spend a week at the Lily Foundation’s research laboratory at Guy’s Hospital in London. Whilst there I learned about a new diagnostic technique, Whole Exome Sequencing, for mitochondrial diagnosis.

As I said before, mitochondrial disease is very difficult to diagnose, as you have to look for mutations in the nuclear and mitochondrial DNA. Whole Exome sequencing can be used to look at all the parts of a patient’s DNA that code for proteins (which is about 1% of the genome) at the same time, in patients who are thought to have mitochondrial disease but don’t have any mutations in their mitochondrial DNA. This technique has allowed the Lily Foundation’s scientists to gain a genetic diagnosis for about 75% of participants, but also to identify novel gene mutations that could be causing mitochondrial disease and to find potential drug targets for new treatments.

Since this research project began in 2014, 202 families have participated and more than 10 scientific papers have been published detailing new gene-disease associations. As well as this, whole exome sequencing for mitochondrial disorders is now included on the new NHS genetic testing directory, meaning that this technique will soon be available on the NHS.

 I found it really rewarding to see how quickly this research has been implemented into routine care, and it made me wonder how often this would be the case without charities such as the Lily Foundation.

Family Weekend

Part of my elective placement involved helping out at the Lily Foundation’s annual family weekend.  The weekend involved lectures from research scientists and clinicians involved in mitochondrial disease for the adults, giving an update of what advances they have made thanks to the Lily Foundation; and a ‘kid’s club’ to keep the children occupied while their parents went to the lectures. I was involved in the ‘kids club’, where we helped out with a range of activities for children of all ages and abilities. Some of the children were affected by mitochondrial disease, and others were their unaffected siblings and friends. It was great to spend some time engaging with the children and wonderful to see those who were mitochondrial disease patients being included and encouraged to join in with the activities, and I enjoyed getting stuck in myself as well!

The weekend also showed me how charities such as the Lily Foundation provide a sense of community to patients and families with this group of diseases, without which life can be very isolating.

The Naked Scientists

The final part of my elective was with a science journalism group based near Cambridge. Again, I tried to get involved in as many different parts of their work as possible, including writing science news articles, gaining experience of how podcasts are made and watching them record a live radio show. The journalists all have a wonderful way of explaining complicated science in a way that the general public can understand, a skill that I think is really important as a healthcare scientist.

They even let me have a go at writing my own science article about the work that I do and how it affects real people. I needed the Lily Foundation’s help with this (showing how important networking is in public engagement) and I ended up interviewing one of their family support workers for my article. In the article (which you can read here) we talk about her own experience of mitochondrial disease and discuss ways for me, as a lab scientist, to keep my focus on the patients who my work will impact.

I found this experience really gratifying as it put my communication skills to the test and allowed me to talk to the general public about what I do and why it matters.

Tips for the elective

I thoroughly enjoyed all the aspects of my elective experience so I’ve come up with some tips to help other trainees get the most out of theirs:

  1. Plan ahead– get planning really early on, especially if you have a really specific idea of what you want to do.
  2. Email EVERYBODY– the more people you e-mail, the more likely it is that someone will reply
  3. Network- try to stay in touch with people from conferences and university lectures, if you’re interested in what they do they might be able to help you organise a placement
  4. Be flexible- you may not be able to do exactly what you originally set out to do, but you may be able to negotiate a shorter placement time or an observation visit so you can still gain some experience of what you wanted to do (and you can use this as evidence for professional practice!)
  5. Split it up- if you have too much work (or wedding planning…) to take the whole 4 to 6 weeks at a time split it up into smaller chunks to make it more manageable
  6. Have fun!- this is a chance to get out of the normal daily routine of the STP, so try to make the most of it!

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