#RareDiseaseDay: Rare diseases – looking better in genes

| February 24, 2016 | 0 Comments

EAAD2013_MRSA28 February is Rare Disease Day. The European Commission defines rare diseases as any disease affecting fewer than five people in 10,000, writes European Alliance for Personalised Medicine (EAPM) Executive Director Denis Horgan.

Figures estimate that, today in the EU, 5-8000 distinct rare diseases affect 6-8% of the population thats between 27-36 million people.

The EU executive adds that: The number of patients affected by each particular rare disease is, by definition, limited. There are diseases which may affect only very few patients, in particular in smaller Member States. This, together with the fragmentation of knowledge across the EU, makes rare diseases a primary example of where working at European level is both necessary and highly beneficial.

There is no doubting that rare diseases throw into sharp relief the fast-developing concept of personalised medicine, and the role of the equally rapidly moving science related to genome sequencing.

In a recent project in the North-East of England, three men from two families became the first patients to be diagnosed with rare diseases via having their complete genetic codes mapped.

This was as a result of volunteering for the groundbreaking 100,000 Genomes Project.

The UKs Guardian newspaper states: They will now be eligible for personalised treatment designed to target their genetic defects or help future generations of their relatives.

Around 75,000 people are being recruited to the £300m (380m) project to have their genetic codes sequenced, with some having more than one version sequenced to reach the 100,000 total.

One of the three men, a 57-year-old, suffers from a history of high blood pressure and kidney failure. He has had two kidney transplants (the first one failed), and several close male relatives died from the same condition. That mans daughter is alsoshowing early signs of kidney damage.

The newspaper quotes the man as saying:I was keen to take part in the project as I felt it was important to try and find out as much as possible about my condition for my daughter and granddaughter.

Now that my daughter has been given a diagnosis, it means that her condition can be monitored every year to see if there are any changes. Research has come on a long way and it is important that we do our bit to help as much as we can.

 Meanwhile, two brothers from the same area were diagnosed with an inherited nerve disease. For the first time, scientists on the 100,000 Genomes Project identified a genetic mutation associated with the condition.

Britains health secretary, Jeremy Hunt, said: The families that are receiving a first diagnosis have been given a fresh start, opening the door for new treatments for future generations with rare diseases.

Meanwhile, a similar project is taking place in London, where scientists are sequencing the genes of 100,000 south Asian people.

Pakistanis and Bangladeshis in the nations capital have among the highest rates of poor health in the country – averaging twice the number of deaths from heart disease and a staggering five times the rate of type 2 diabetes.

But scientists predict that there will be people among the 100,000 who are much more healthy, and their genes could be the reason for their resilience.

There is a fair amount of inter-family marriages (between cousins) in these communities and having related parents ups the odds of having two copies of a rare-disease gene.

The study is called East London Genes and Healthand David Van Heel, professor of genetics at Queen Mary University London, who is co-leading the project, is quoted by The Guardian as saying: This is not about telling people who to marry, its about improving the health of the future generation.

While looking for beneficial versions of genes, so-called knockouts are of great interest. These are mutations that block a gene from working completely. These genes were once thought of as harmful, but there is evidence that – at least sometimes – they can help when a gene stops working altogether.

Once again, The Guardian quotes Richard Trembath, a professor of medical genetics at the same London university, as saying: Youll see knockouts very rarely in the general population, but youll see them more often in populations with greater parental relatedness so theres an opportunity for us to better understand them.

Meanwhile, the UK has also seen the launch of 23andMes home DNA testing kit, and medical scientists are, of course, optimistic that genetics will deliver on its early promise.

However, there are concerns. Not least about new kinds of discrimination. Well, they are not all that new, as one only has to remember that medical Ethics Committees were formed in the aftermath of the post-WWII Nuremberg Trials.

Some fears are unjustified – it is impossible to have a simple genetic test for, say, intelligence and/or athleticism and be confident in the results as way too many genes are involved, alongside other factors such as environment.

Of course, those scary insurance companies are always mentioned when it comes to information on health getting into the wrong hands – part of the broader Big Data debate, not just genetics – but, then again, given that there is no such thing as the perfectgenome, if insurance companies ruled out everyone with a risk of this disease or that one, who would they insure?

There are very important issues that need not just medical but societal debate. But one thing is for certain, next-generation sequencing is here already and the prospective benefits are enormous. Rare diseases are simply the tip of the iceberg.

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Category: A Frontpage, EU, European Alliance for Personalised Medicine, Health, Personalised medicine