Nightingale scholars enjoyed a lunchtime lecture on Wednesday by Sarah Enniss, Professor of Genomics at the University of Southampton. Anna in Year 13 reports on the event…

Sarah began her lecture by showing a video of a girl who suffered from a rare type of epilepsy that the doctors had been unable to diagnose. The girl had spent over 200 days in hospital with approximately 120 of those in a coma in intensive care.

As a last resort this patient’s DNA was ‘scanned’ and a rare mutation was found in her genes. As a result, the treatment became a simple vitamin pill to correct the malfunctioning metabolic pathway caused by this mutation.

The advances in technology since the Human Genome Project has enabled the hospital to diagnose this rare condition not previously seen in a patient of her age. It has allowed her to get her normal life back, and has saved the NHS thousands of pounds.

Genomics is a growing field with thousands of areas to specialise in. The Human Genome Protect was previously a 10-year project, by the end of which the complete DNA nucleotide sequence that made up the human genome had been determined. One of the implications of this project was the sheer amount of data generated from the millions of potential combinations of DNA, so the database required to log this is enormous.

Sarah emphasised that this field of medicine was not just directed towards biologists and medical students. Programmers and statisticians are pivotal in this role as their skills are needed to process and analyse the vast quantities of data. The lecture was a brilliant representation of the cross over between medicine and modern technology.

By Anna, Year 13


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