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A century of DNA discoveries

Our understanding of DNA and genetics has come a long way in the past century. What started as small scientific breakthroughs paved the way for greater discoveries, and led us to today where the study of genomics is transforming medical care, developing technology that could cure a patient of disease even before they are born. In our first of two articles on DNA, we look at the story so far and ask the question, where do we go from here?

It’s been 115 years since Sir Archibald Edward Garrod became the first person to identify that human diseases could be passed down recessively from one generation to the next. Building on the work of Gregor Mendel, who discovered the basic principles of genetics forty years before him, Garrod’s work was both a milestone in our understanding of genomics and a springboard for further discovery.

Physician Garrod was studying patients with a rare disorder called alkaptonuria – also known as black urine disease or black bone disease. The disorder affects around one in 250,000 people and is more common in Slovakia and the Dominican Republic, where it affects one in every 19,000 people. We now know that the disease is genetic, and for it to be passed from one generation to the next, both parents must carry abnormal copies of the HGD gene.

Sir Garrod’s paper ‘The Incidence of Alkaptonuria: A Study in Chemical Individuality’ was published in 1902, and in it, Garrod concluded that alkaptonuria was a recessive disorder. This became the first published account of recessive inheritance in humans.

Garrod referred to the genetic disorder as the result of ‘inborn errors of metabolism’, believing that certain diseases were the result of errors in the body’s chemical pathways. His work paved the way for scientists after him to develop more of an understanding of the molecular basis of inheritance and how diseases could be passed down through generations of families.

Fast forward 100 years, and the journey of discovery into genetics and DNA has taken mankind further than Garrod or Mendel could have imagined. Thanks to their pioneering work which set the ball in motion for other pioneers like Miescher, Avery, Crick and Watson and Sanger, we now understand the mechanisms of genetics and how diseases are passed down from generation to generation, we can map our entire genetic make-up in less than a day and even isolate anomalies in our genome which make us more susceptible to particular diseases and disorders.

Genetics-based technologies are becoming an increasingly common part of our everyday life too. Scientific work on genetically modified crops is helping farmers to grow more resilient plants; scientists are even applying the same techniques to livestock to help communities where extremes of temperature and a shortage of food and water can reduce the life span of farm animals.

DNA testing has also been wholeheartedly adopted into the legal system, helping to settle paternity, maternity and even immigration cases. In forensic investigations, it provides vital evidence to help the police and justice system to convict criminals, and can also be used to help police solve cold cases.

Next week, in the second part of our blog, we will look at the future developments of DNA science and technology, and the more unusual ways that it is being used. Have you heard of any different or curious applications for DNA or genetic testing? Leave us a comment below!

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12th April

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