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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.

Dante Labs Launches Rare Disease Month February 2019, With Special Genetic Testing Offering Reserved for Rare Disease Patients

LONDON, January 31, 2019 /PRNewswire/ --

Rare Disease patients will receive whole genome sequencing and customized reports for $299 (€259). The revenues will fund free genetic tests for people in need.  

Global genomic company Dante Labs announced today the launch of an exclusive Whole Genome Sequencing Service for the month of February 2019 - Rare Disease Month 2019. This service, which includes whole genome sequencing 30X, data interpretation and additional mitochondrial DNA sequencing, is set to be reduced to $299 (€295) for Rare Disease patients.  

To qualify, patients simply need to upload their diagnosis after their order is placed. The promotion will run from February 1st -28th (Rare Disease Day) and is reserved to rare disease patients. Standard users will still benefit from a special discounted price ($399/€349).

Rare Disease patients will receive a customized report central to their diagnosis/disease of interest, with the most current research incorporated into their report. Along with the careful interpretation of their genetic data,  patients will also receive a general health and wellness report and a report on reaction to medications.

'Advocating for and supporting Rare Disease patients has always been part of our core mission' stated Dante Lab's CEO Andrea Riposati. "In 2018, we invested about $300K to subsidize genetic tests for rare disease communities, such as the Periodic Paralysis community."

With Rare Disease Month 2019, Dante Labs is building on this initiative, by extending support to the Rare Disease community further. Therefore, all sales during this promotion period will fund free genetic tests for rare disease patients in need during 2019.

"Whole genome sequencing is key for rare disease patients, as non-actionable variants can be aligned to symptoms and lead to better medicine management, empowering patients with a deeper understanding of their Rare Disease. With this exciting and rewarding promotion we feel proud to stand alongside patients to make genetic testing more accessible for everyone."

Contact: Francesco Pennelli
Phone: +39-3206030072

Newton's First Law: A genetic twist

Newton's First Law: A genetic twist

We all go through changes in life, whether it be moving houses to changing our diets. These can be classified as macroscopic changes in life, but certain changes can occur at the microscopic level too. You might have heard these been called ‘mutations’, but today it is preferable to call them, ‘genetic variations’, or simply, variants. When we hear the word ‘mutation’, we tend to think of some kind of exotic animal concoction, however mutations, or rather variants, are a natural part of life (…and unfortunately don’t allow us to gain super-human strength or fly. Genetic variants arise in the chapters (genes) of our book, called the genome. Much like family traditions that are altered as generations go on, the human genome can gain genetic variations over time, and just like traditions, these variants are what define you. Genetic variations are the reason why we are distinctive both as a species but also as individuals, so what are they?

Well, the human genome is made up of a four-letter alphabet; A, T, C and G. The ‘chapters’ in the genome, called genes, are made up of many ATCG repeats and when our cells’ machinery read these genes, they make proteins. These proteins make up you! They are the reason why you see, live and breathe … so our genome is pretty important. However, when a genetic variant arises on a gene, one or more of these letters change to produce a new variant. For example, ‘A’ could change to a ‘C’ and this can cause problems for our cells’ machinery. For instance, take the word ‘pool’. When we read this, we know it means a mass of water, but if we change one letter in this word e.g. to ‘popl’, we can’t translate this to have a meaning. The same problem arises in our cells when the letters mutate to produce a new genetic variant, meaning they can’t translate the genes into proteins. Some new variants can still be read e.g. ‘poll’ …but this means something completely different! The current issue in biology is that there are 3 billion of these letters to get through in one human genome (an average 250-page book only has 400,000!), and any one of these letters could be mutated. This means some of the genetic variants out there and their effects still might not be understood by scientists.

At Dante, when we sequence your genome we give you the raw data. This means we give you what scientists know now about the genetic variants you have, and what they don’t know. But what’s the point in knowing you have a  genetic variant  if even science doesn’t know what it means yet? Well you would be sharing the same mindset posited by traditional genetics, which claims that discovering a ‘non-actionable’ variant is well, ‘useless’. This is not the case. If Dante find a ‘non-actionable’ genetic variant in your genome, this actually gives you the chance to shape the future of research and start rare disease groups or even push biotech research to find out what these variants of your gene mean. If there is a variant of the gene, there is a variant… just because we do not understand it does not make it any less valid or significant.  Furthermore, when we take blood test at doctors, do we only accept the results we understand? No, we explore every result, and this process can lead to a greater understanding of our bodies. So why isn’t this school of thought used by genome sequencing companies? At Dante that’s what we are doing. So let’s take a leap out of Sir Isaacs Newtons book where the first law of motion states, ‘A body at rest will remain at rest, …unless it is acted upon by an external force’, and together we can be that external force to change these ‘non-actionable’ genetic variants into actionable!