Tuesday, 14 July 2015

Unlocking your body’s fingerprint: the human genome

The DNA double helix
Many things can be inherited from our parents, for me that means blue eyes, for others, it means brown eyes-it all depends on the information passed down from their genetic information. But other things, such as susceptibility to disease can also be passed down through genetic factors. However, this isn’t the whole story. Environmental factors, such as diet and exercise, have been shown to contribute to a wide range of diseases, including some neurodegenerative diseases. Because of this, it makes it difficult to understand what can be a genetic predisposition, what could be the result of gene-environment interactions, and what impact changing lifestyle factors could have when it comes to decreasing your risk of developing a disease? This leads me to the first of many important questions!

What is DNA, and why is it so important? 


 Deoxyribonucleic acid (DNA) is made up of 4 nucleotides which form rungs of a ladder-like structure called a double helix. These nucleotides can be arranged in different ways, and this is what makes up our DNA sequence. Each person’s string of DNA makes up their genome, which is unique to them, just like their fingerprint. Some diseases can be caused by some sections of this DNA being faulty, so understanding these DNA sections can be crucial in identifying disease, and could affect the treatments given to patients. 

Understanding your body’s unique fingerprint: The Human Genome Project

This means that more needs to be known about the human genome. This led to the Human Genome Project (HGP) which aimed to identify the sequence of our nucleotides as well as creating maps showing the genes' location. The project began in 1990 and was funded by the US government in conjunction with many other countries, including the UK. The project was completed in 2003, with many new findings. It was found that there are around 20,500 different genes in the human genome, as well as giving information on the organisation, function and structure of our genes. That’s a lot of information!

Armed with these new findings about our healthy genes, it has allowed many genes to be identified that relate to specific diseases. Sometimes, these faults, known as mutations, have no effect on a person, but other times it can lead to disease. Some neurodegenerative diseases are known to be caused by mutations, such as: Huntington’s disease, familial motor neuron disease and familial Alzheimer’s disease, which have mutations that can be passed on through the generations, with devastating effects.

Having this knowledge is beneficial so that scientists can better understand neurodegenerative diseases, in order to develop effective drugs to target these mutations. 

But has this changed the way we carry out research? Well, the answer to that question is yes! Many labs, including SITraN, are at the forefront of this work, much of it funded by the ice bucket challenge! We definitely used up a lot of ice when the whole of SITraN took part!

The SITraN ALS/MND Ice Bucket Challenge

Project MinE: Hope for MND Sufferers

With these advances in genome sequencing and the increasing availability of facilities to carry out sequencing at lower costs, it is now possible to apply this technique to discovering variations in a person’s DNA and see if there are any links between sufferers of neurodegenerative disease, such as motor neurone disease (MND).

This availability led to a collaboration between many countries, including the UK, USA, Switzerland and Australia, joining forces in one of the biggest human genome projects to date: Project MinE. This project, the UK arm fueled by the MND Association, aims to sequence 15,000 MND sufferer’s DNA, 1,500 of which will be sequenced right here in the UK, which is very exciting news! This information could revolutionise MND research by helping us to identify any genetic patterns that would increase the risk of someone developing this disease; it could even help to identify if any gene-environment interactions are at play, as there is evidence to suggest that lifestyle factors could have an effect on the risk of developing MND.

The results of these findings would be very beneficial and provide a huge resource to researchers that could be used in the fight against MND, with the hope of identifying which key parts of our DNA are already susceptible to MND and even if these parts could be targeted to produce a drug that could help with the symptoms and slow the progression of MND.

Mainstream genome sequencing: miracle of science?

Genome sequencing is now becoming so popular you can now pay some private companies to sequence your genome for you! This can give you lots of information, such as your susceptibility to disease. Used carefully, they could even become part of your medical records and this opens up the option of being able to tailor-make drugs that are specifically targeted at your unique genome. This may sound like a scene from a sci-fi film, but it could eventually become a reality!

So overall, the concept of mapping your own body’s fingerprint is possible and cutting edge research uses this technique to come up with novel ways of targeting and identifying markers of disease that may help us all to understand how to lead healthier lifestyles that could reduce our chance of developing these diseases either now or later on in life, as well as using this knowledge to our advantage regarding treatments if a disease has developed.

To find out more about ProjectMinE visit www.projectmine.com or the info pages on the MND Assocation website
. Anyone interested into getting into this exciting field of research can check out the University of Sheffield's new
MSc in Genomic Medicine.

By Charlie Appleby-Mallinder

Charlie is an undergraduate Biochemistry student currently on a year-long placement at SITraN, supervised by Dr Paul Heath. Charlie is investigating new techniques into microdissection that can be applied to neurodegenerative research with an interest in disease at a molecular level. Charlie.applebymallinder@gmail.com

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