Profile

I work in Addenbrooke’s hospital as a bioinformatician. I love cycling, cooking and travelling. At least I can do two of those things during the pandemic. Currently obsessed with making sourdough bread, it feels like a science experiment. I play basketball and enjoy bouldering.

I really enjoy cycling in Cambdridgeshire, I dislike hills and there isn’t many which is great.

I have a cat named Rascal and he is adorable.

I also have an allotment, we started gardening last year  and it has been lovely growing our own vegetables. I also love mountains, i grew up looking at the greek mountains so I do miss them dearly.

I am a Clinical Scientist specialising in the field of Clinical Bioinformatics working in the NHS.

Here’s me with our fancy new DNA sequencers.

What is Bioinformatics you ask? Glad you did!

Bioinformatics is a science child of Biology and Computer Science. Bioinformaticians solve biology problems using computational thinking. W

A few works I use in my everyday work:

• Genetics is the study of genes and heredity. It studies how living organisms, including people, inherit traits from their parents.
• Genes are the basic units of heredity.
• Genes carry information that determine what characteristics are inherited from someone’s parents. They determine traits such as the color of your hair, how tall you are, and the color of your eyes.
• DNA is an essential molecule for life.It acts like a recipe holding the instructions telling our bodies how to develop and function.
• DNA is short for deoxyribonucleic acid.
• What is DNA made of
  • DNA is a long thin molecule made up of something called nucleotides.
  • There are four different types of nucleotides(or bases) :
    • A – adenine
    • T – thymine
    • C – cytosine
    • G – guanine.

In Bioinformatics we use those four letters to create programs that quickly analyse a patient’s DNA and try and help diagnose why they went to the doctors.

How does this work?

For example: About 1 in 2,000 babies born in the UK has sickle cell disease. This is a serious inherited blood disease. Sickle cell disease affects haemoglobin, the iron-rich protein in red blood cells that carries oxygen around the body.

Haemoglobin A is protein which binds and transports oxygen around the body. It consists of two parts. One change in the DNA can lead to one part being slightly affected. To take a better look we take blood samples from our patients.

Your proteins are made up of amino acids which in turn are encoded from the DNA bases we learned above. In our example a patient with Sickle Cell disease has a spelling mistake and it goes from GAG to GTG changing one amino acid in our protein and making the red blood cells change shape when they don’t have enough oxygen.

Our doctors and nurses will take the blood sample which will then be prepared in our laboratory by extracting the DNA from the rest of the blood. It then goes on to some expensive machines which can read the letters of the DNA  but create really big files that need the help of a computer to analyse. We – the bioinformaticians –  take the files and data from the sequences and using computers we analyse our patient DNA to try and find those spelling mistakes that cause changes in proteins and result in disease.

I don’t get to go into the hospital that often anymore so my day starts with a hot cup of coffee and comfy pants. I start with catching up with messages and emails and plan my day. Every day is a bit different. I could either be developing new tests and workflows to analyse data that comes from new tests to help diagnose more patients or train collegues in new skills and techniques. There most probably will be a meeting or two every day over Zoom, they are unavoidable.