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How Dante Labs Can Help You Get Your Diagnosis

How Dante Labs Can Help You Get Your Diagnosis

It takes on average 7.6 years for a Rare Disease patient to receive a diagnosis.  If you’ve seen our Facts posted daily on Twitter and Facebook, then you’ll know this period of time is called the, ‘Rare Disease Odyssey’. During this length of time patients go undiagnosed or misdiagnosed, and are termed, ‘medical refugees’. Instead of receiving a standard course of medicine, Rare Disease patients endure; repetitive rounds of testing, miss-interpretations of results, and tracking down specialists. However, this 7-year long Odessey has the potential to be shortened to months using a technology called ‘Whole Genome Sequencing’ (WGS).

80% of Rare Diseases are of a ‘genetic origin’. This means that within our 3 billion long, ATCG-coded genome, lies many of the answers as to why certain rare diseases or ‘unexplainable symptoms’ occur. If patients  are able to access their genomes, they could be able to understand what rare disease they harbour and begin to understand its’ genetic basis.

This is where WGS comes in.

WGS is a tool used by scientists to identify the order of  our ATCG-lettered genomes. Each person has a slightly different sequence of letters, which is what causes variation and, in some cases, Rare Diseases. Certain arrangements of these letters within our genome are associated with Rare Diseases. For example, variations of the lettered arrangement in  the ‘COL5A1’ gene, are thought to contribute to Ehlers Danlos. So where can you get WGS, to understand the sequence of your genetic code?

Phase 1 of  Dante Labs’ action plan to help tackle difficulties faced by undiagnosed/misdiagnosed patients is:

  1. To offer discounted WGS tests for Rare Disease patients (€259). To help those in need now of a diagnosis. However, we aren’t stopping at providing you with the data.

Phase 2 of our action plan for you is:

  1. To provide you with the services that can help to interpret the data and guide you through the diagnosis process  with our optional ‘Customized Report’ and our additional ‘Secondary Report’. Both Reports form part of our developed ‘’Two-Tiered’ approach.

This First Tier (the Customized Report) is an option that we provide (free of charge) to patients who have a specific interest for a specific condition or disease, for example Epilepsy, Periodic Paralysis).If you choose “Periodic Paralysis”, then we will generate a Periodic Paralysis Panel, containing all the variants. The variants found and interpreted  are recurrent and have been well-documented and associated with the symptoms  reported.

The Second Tier (our Secondary Report) includes variants with similar symptoms to your chosen disease of interest.  What we call an ‘expanded gene panel’. We have found from our experience of helping Rare Disease patients that with complex diseases, up to 20% of patients are misdiagnosed with the wrong disease. Therefore, this specially curated Secondary Report has proven to be a very useful tool for both patients and doctors to achieve a precise diagnosis, and prevent the ‘diagnostic odyssey’ experienced by Rare Disease patients.

The Third and Final Phase of our plan is:

  1. The opportunity you get to help a Rare Disease patient in the future. This is because proceeds raised during Rare Disease  Month will be used to fund free genetic testing to Rare Disease patients in need.

So if this list of benefits isn’t enough to get your whole genome sequenced at Dante Labs during Rare Disease Month, take a look at another of our articles[].

But why not consider ‘bare-ing your rare’ today, to help yourself and help someone else.

#bareyourrare #showyourstripes

Dante Labs Adds Pharmacogenomic Analysis for 100+ Drugs on Amazon and for Black Friday Offer

LONDON, November 23, 2018 /PRNewswire/ --

International biotech company Dante Labs expanded its whole genome sequencing with a pharmacogenomic analysis that measures the reaction to more than 100 medications. The report is added free of charge to its Whole Genome Sequencing and WholeGenomeZ offer

International biotech company Dante Labs announced today the launch of a pharmacogenomic report for its whole genome sequencing tests. The report will be available to all customers outside of the US and Canada. Previous patients will also receive the report, free of charge.

Pharmacogenomics is the study of how genes affect a person's response to drugs. This relatively new field combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective, safe medications and doses that will be tailored to a person's genetic makeup. Many drugs are currently available are "one size fits all," but they don't work the same way for everyone.

Dante Labs pharmacogenomic report analyses the reaction of people to more than 100 medications in cardiology, oncology, psychiatry, neurology and infectious diseases. Drugs in the report include specialized drugs such as Warfarin, Cisplatin, Simvastatin and Abacavir as well as general drugs like Aspirin.

"Almost 98% (97,56%) of our patients have at least one genomic associated with altered drug sensitivity," says Dante Labs CEO Andrea Riposati. "We analysed 1500 people from more than 40 countries who performed Whole Genome Sequencing with us. Previous studies with whole exome sequencing showed a percentage of 96.19%."

"Releasing this new report during our Black Friday / Cyber Monday offer highlights our dual mission: make advanced genetics accessible to everyone and push forward genetic bioinformatics and data analysis."

Dante Labs is offering whole genome sequencing, 30X coverage with health reports for 169 euros until "Cyber Monday", Monday November 26th. The offer is available on Amazon and on Dante Labs website Get the test now.


Francesco Pennelli


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!