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Seven years of searching can turn into months using your own genetics

Seven years of searching can turn into months using your own genetics

Are you able to cast your mind back to seven and a half years ago?  For much of our 7 billion-strong population the memory that arises will be of little significance, but for the millions of rare disease patients out there, this memory is has led and changed the course of their lives.

It takes on average 7.6 years for a rare disease patient to receive a diagnosis. This period of time is known as the rare disease odyssey, where patients are termed ‘medical refugees’. This is because, instead of receiving a standard course of medicine, rare disease patients are tasked with enduring; repetitive rounds of testing, miss-interpretations of results, and tracking down specialists. Yet still these patients manage to persevere with a distinct determination coming from what can be a frustrating and intolerable heartache. 

It is estimated that there are 350 million people living with rare diseases across the globe. If these 350 million people were to live in a single country, it would be the third most populous country in the world. These shocking but verifiable facts clearly demonstrate the widespread need to understand and tackle rare diseases. However, our lack of scientific understanding of these diseases has led the snow-balling of detrimental effects, left to be felt by rare disease patients.

Hope is around the corner. Since the legislation of the ‘Orphan Drug Act’ in 1983, there have been as many as 353 orphan drugs approved by the FDA. This has rendered at least 200 of the 7,000 known rare diseases treatable. Evidently, there is still a long way to go, but this brings to light an even greater tool, and one that is at each-and-everyone’s disposal.

80% of rare diseases are estimated to be of a ‘genetic origin’. This means that within our genome lies many of the answers as to why rare diseases occur. If scientists, clinicians and patients were able to understand the genetic basis of rare diseases, then the snow ball effect could be stopped, and rare diseases could be treated or even prevented in the future. However, in order to understand the human genome, it must be sequenced. This means taking genomes apart and citing every letter (A, T, C or G) it contains. Each person has a slightly different sequence of letters, which is what causes variation, as well as rare diseases. In the 1990s, sequencing the human genome would have taken you 15 years, intangible amounts of money and a global task force. Thanks to the age of technology we can now sequence a human genome, in months for less than $500.

Through the use of whole genome sequencing ending the rare disease odyssey could be brought forward. This would put a stop to the thousands of medical refugees, struggling to find where they belong in the medical world. This is because genome sequencing makes the genome and its secrets accessible to both the patient and their physician, accurately determining whether the patient has a rare disease based on their sequence of letters. Using this knowledge both patient and physician have the power to treat the diagnosed condition, prevent the onset of rare disease and find specialists who can make a real difference. Furthermore, once diagnosed, rare disease patients are able to connect with patients just like them. Diagnosis has the power to bring people together, allowing experiences of rare diseases to be shared. But this list of the benefits for genome sequencing does not stop at the patient and the physician.

The more genomes scientists’ sequence, the more variations of sequences can be observed and tested. This allows scientists to find new variations of sequences that cause rare disease. Once these variations are found and established, scientists will be able to research how these variations directly affect us. This will accelerate the development of treatments to stop the effects of rare diseases in their tracks.

Genome sequencing has the potential to empower the patient, the physician and the scientist. Therefore, if this opportunity comes you up, maybe you could consider it as you would be helping to change your life and the lives of others.

Jeans and Genes: Making sense of your biological ‘style’

Jeans and Genes: Making sense of your biological ‘style’

The type of jeans that you decided on wearing this morning gave you your own style for the day.  The same happens with the genes in your cells, except you don’t get to decide which genes you ‘wear’ on a daily-basis. Genes have the instructions for your body’s ‘style’, for example they are responsible for that annoying and slightly larger-than-needed nose, or the reason you could be prone to putting on those extra pounds! Just like the jeans we wear though; our biological genes can be on or off. If they are ‘on’ we outwardly wear them (and will be prone to gaining the extra pounds), and if they are ‘off’ we will be less prone (hurrah!). The thing is, for every likelihood, whether it be a body part or a disease, we inherit one gene from our mother and one gene from our father. These two inherited genes are variations of each other. For example, one variation could be the in-fashion skinny jean, and the other is those 70s flares.  However, there are plenty more variations out there (don’t forget the three-quarter lengths!).  In science these gene variations are called ‘alleles’. Depending on what’s in the genetic wardrobe of your mother and father, their ‘collection’ will provide your cells with two optional ‘outfits’ for each gene. So, which do you get to ‘wear’?

Whether it be flares, skinny genes or even the classic straight cut, at the moment one of these styles of jeans is ‘in-fashion’. You could call the in-fashion jeans ‘dominant’ compared to the other jeans on the market, classified as ‘recessive’ (…if biologists ran the fashion industry and thank goodness they don’t!). Our biological genes work on the same principle. If your mum provided you with a dominant gene variation, and your dad provided you with a recessive variation… well your mum’s will win, and you will produce a ‘dominant trait’ (hello skinny jeans…!). However, if both of your parents provide you with a recessive variant … then you will possess two recessive variants. So, what happens then?  Nothing is dominant. Well, because there are two recessive variants, and no competitive or dominant genes around, the recessive variants team up. This will result in you producing a ‘recessive trait’ (those 70s flares unfortunately…). That all seems quite straight forward, so let’s explore our biological sense of style a little bit more.

So, what we’ve established is that you have your genes which are inherited from your parents and then you ‘wear’ them to produce traits e.g. blue eyes? Well, not quite. You see, the genes you possess are more like the prototype for the factories (your cells) which then produce the real traits you ‘wear’ and see every day. When these prototypes are examined by the factories, they are then understood and sewn (translated) into proteins that can be the ‘jeans’ you outwardly wear. This is why there can be some complications. Firstly, whichever gene we inherit (dominant or recessive), and go on to ‘wear’, can include mistakes or variations which could lead to disease. For example, if your mother provides you the PAPA syndrome gene variant (which is dominant and leads to early-on-set arthritis), you will develop the syndrome. Unlike a factory that produce the non-biological jeans, we can’t send these prototypes back. Therefore, we are stuck with these genetic outfits. Secondly, just like a factory producing clothes, the input (or prototype) might be perfect but during the development of the product, sewing, and intricacies of the production-line …there’s a lot of space for things to go wrong! Therefore, between the prototype (gene stage) and the gene-product (protein stage) … there is a lot of potential for error. This could lead to certain proteins loosing integral parts of their design. This might be okay. For example, if you have a hole in your jeans technically you can wear them, they just aren’t fully functioning that’s all. However, in some rarer case, the mistakes our cell-factories make down the production-line could be detrimental, leaving proteins redundant and un-workable. Think, if the jeans produced in the fashion industry were redundant, the clothing line would go bust and knock-on effects are incurred, and this is exactly what our cells are liable to.

At Dante we are able to find the dominant and recessive variants in your genes and using high-tech and reliable machinery, we can then pick out the faults in you prototype-like genes. Yes, you cannot change the prototype (…maybe one day we will be able to!), but with the knowledge you will be able to adapt your life style to prevent certain dieses from developing, understand why you might be exhibiting ‘un-explainable symptoms’, and create health-care plans for your future. This can empower you to work on your own ‘factory pipe-line’ to avoid unnecessary product flaws you might otherwise be prone to.

So, Dante would just like to say, well done for making it through that biology class! Now you know the theory, it only makes sense to get on with the practical and order your kit!