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DNA

Dr Neeta Lakhani’s journey from working-class background to successful paediatric consultant was almost complete, but after being persuaded to study a Genomic Medicine Master’s at ICE, Neeta realised her long-held dream of working at the cutting-edge of clinical genetics. And yes, in case you’re wondering, sometimes it really is just like being House, M.D., she says.

Getting my dream job – via the road less travelled

“I came to medicine a bit later in life. I was fortunate to have Sir Alec Jeffreys, who discovered genetic fingerprinting and DNA profiling, as supervisor for my first degree in Medical Genetics, but it was an inspiring encounter with a Clinical Geneticist that made me re-train and put myself through medical school – I had to sell my house and car and move back home to do it.

“Afterwards, I began a happy career in paediatrics, but in the back of my mind there was still this passion for genetics that I needed to indulge. It was a Cancer Geneticist, Professor Julian Barwell, who convinced me to apply for a Genomic Medicine Master’s at ICE. It seemed ridiculous to me at the time. I’d spent half my life studying, was a Registrar working towards consultancy, had got married and started a family – I had enough on my plate already.

“Plus I’d grown up in a working-class community and none of my schoolmates were becoming Doctors, never mind getting into Cambridge. But I applied, interviewed and got a place. I was a bit starstruck at first – I mean, this is the city where the double helix structure of DNA was discovered! – but it was brilliant to come to ICE and learn part-time alongside my work.

“My Course Director, Dr Gemma Chandratillake, was one of the people who helped me apply for and get my dream job – a Registrar in the Clinical Genetics team at Leicester University Hospitals. It was so reassuring to be asked questions for my application that I’d covered three lectures ago.

A diagnostic detective hunting for clues

“If you’ve ever watched the TV series, House, that’s pretty much my job now. I’m like a detective trying to work out what’s wrong with patients referred to me when specialists can’t identify the underlying root of their problems.

“In some cases, conditions are caused by a single difference in the genetic ‘instructions’ of a person’s DNA. Imagine genes as lines of a recipe. One might say ‘add sugar to cake,’ but if salt gets added instead it might look OK but wouldn’t taste it. We can identify what happened differently to cause the condition.

“In the last fifteen years or so – since the reading of the human genome – we’ve been able to start identifying the causes of more complex conditions; when multiple lines of the genetic ‘recipe’ are different, or when genetic differences interact with certain environmental factors.

“For example, a child might be unexpectedly tall for its age with no obvious reason. By talking to the parents, I might find out that the child had a large head at birth, then I can examine the child and notice other physical factors like a back that’s not quite straight, and I can start piecing these clues together to understand what to look for.

Reducing risk for safer treatment

“The study of genomics isn’t only revolutionising how we diagnose and treat medical conditions it’s helping us cut risk too – like a simple aspirin being able to lower the chance of developing certain cancers. I think that’s phenomenal, and it’s relevance is set to increase as we learn more. Pharmacogenomics, where we can analyse a person’s genetic make-up to anticipate their likely response to a drug, will have all sorts of applications in making sure we give each individual the most effective, low-risk treatments.

“The future of genetics is infinite. It’s changing the face of the way we treat people and I’m really excited to be a part of that.”

Find out more about the MSt in Genomic Medicine.

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This article was originally published in the Lent 2020 edition of Inside ICE.

 

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