"Genetic diseases are not invincible" by Peter O'Donnell and Alisa Herrero

2018 /Thursday, October 18th, 2018

Genetic diseases are not invincible

Every day, the scientific community discovers new approaches to combating congenital diseases. A Belgian initiative is set up to develop an innovative approach that will greatly contribute to this objective.

Until recently, people with a genetic disorder could not do much more than try to alleviate symptoms with palliative treatments. Being born with a genetic disorder is for many people a destiny offering little hope of effective fight against the progress of the disease.

Marfan syndrome is a rare genetic disorder. It is caused by a randomly occurring mutation of the gene responsible for the production of fibrillin. Fibrillin is a key component of connective tissue; It functions as glue between the cells, and gives form and strength to the tissues of the body. This mutation usually leads to too rapid skeletal growth, vision problems, respiratory problems, and progressive degeneration of the heart.

Several reputable research teams work around the world to understand why the effects of Marfan syndrome vary so much from one person to another: while some people are severely affected, others show little of symptoms.

The discovery of this Holy Grail for Marfan syndrome offers a realistic perspective to improve the lives of millions of people with this genetic disorder.

But what is special about this approach?

The key to unlocking this potential is the recent breakthrough in understanding the human genome – the complex relationships between the millions of genes that each individual carries and that dictate to a large extent the behavior of each person's body.

Researchers are now intensifying their new ability to " to see "within the genome. By combining science with powerful computer programs, they can now identify with unprecedented clarity what genetic mutations most often cause a genetic disorder.

With traditional genetic tools, there are already more than 3000 different mutations observed in Marfan patients. The location and type of mutation may in some cases give some indication of the severity of the disease.

The value of the new approach to human genomics is the potentiality of being able to shed light on the reason why an identical mutation (for example in several members of the same family) does not affect individuals of the same Way.

How to counter-attack?

The new genomic tools and the big data have discovered that some individuals do not suffer from the effects of a genetic disorder, although they have a characteristic genetic mutation considered to be the cause of this disease.

These people seem to be immunized. While everything indicates that they are suffering from a genetic disorder, something else in their genetic heritage – that is, in their genome – counterbalances the failure of the pathogenic gene they carry. One or more other genes modify the harmful effects of the pathogenic mutation and restore their physiological function to a normal equilibrium level. Science has invented a term to denote these modifier genes: superhero genes ".

New opportunities

This discovery has opened the door to a whole world of new opportunities.

It was already possible to identify, through genetics, the mutation that causes a genetic disorder. But if it becomes possible, thanks to genomics, to also identify the " superhero genes ", which neutralizes or thwart the impact of pathogenic genes, it may then be possible to use this knowledge to improve the treatment of other patients.

In the longer term, this approach could revolutionize the treatment of a large number of genetic diseases that limit the lives of hundreds of thousands or even millions of people in Europe and around the world.

What is happening to move things forward?

End 2017, an innovative project started in Belgium to exploit the potential of this hypothesis.

At the origin of the project are the parents of the little Aurelian, two and a half years old, suffering from Marfan's disease. Immersed in the scientific readings on this disease, they discover the potential of genomics in the treatment of genetic diseases. After many discussions and meetings with researchers from all over the world, Romain and Ludivine decided to create the " Fondation 101 Génomes "to support an innovative idea: the creation of a database that would combine genomic data with data on the physical condition of Marfan's patients.

Once realized, the database could allow two huge scientific advances. Firstly, this would identify the " superhero genes "that protect some people from the negative consequences of a pathogenic mutation that is responsible for Marfan syndrome. Secondly, this would enable the development of new therapies to replicate the effects of "superhero" genes and thus to personalize the treatment of people with Marfan syndrome.

The idea raises a growing interest in the scientific community specializing in Marfan syndrome. Renowned researchers in Belgium and France have formed a Scientific Committee that brings together professors Anne de Paepe, Julie de backer, Paul Coucke , Marjolijn Renard (UZGENT), Bart Loeys and Aline Verstraeten (UZA), Guillaume Jondeau and Catherine Boileau (Hôpital Bichat) and Dr. Guillaume Smits (HUDERF).

These researchers gathered together to define the best strategies for establishing this data platform, how to collect and analyse patient data. The research teams are ready to start.

Next step: bringing the budget together

To carry out this promising and exciting idea remains to be overcome a challenge: collect 1 million euros to establish and feed the database for the next ten years. This budget will cover the costs of patient sequencing, as well as the storage and availability of data, allowing scientists to progress in their research and efforts to discover these famous "superhero" genes, and by therefore better targeting the treatment of genetic diseases.

How does this initiative serve the cause of Marfan patients?

It is statistically estimated that one in five thousand people suffers from Marfan's disease. In Belgium, there are about 2000 people affected. In the world, nearly 2 million people suffer from Marfan syndrome.

In addition, the F101G database could help develop a methodology for other genetic syndromes. The F101G could thus be considered as a pilot project with enormous potential: that of improving the lives of 700,000 patients with a rare disease in Belgium, 30 million in Europe, and 350 million of patients all over the world.

This project is therefore hopeful for people who are suffering from Marfan syndrome and potentially for people with other rare diseases.

In March 2018, Radio org – the cupola Association which gathers the bulk of the Belgian associations of patients with rare diseases – awarded the F101G the Edelweiss Prize awarded as a reward for a unique contribution to a network of rare diseases.

How do you support the F101G Foundation project?

To find out more about Marfan's syndrome, you can visit the website: https://www.marfan.org/ .

For more information on F101G, you can visit the website: www.f101g.org.

If you want to donate and contribute to the discovery of "superhero genes" that protect some people from the effects of Marfan syndrome, you can do so via the King Baudouin Foundation. All donations are fiscally deductible.


Peter O'Donnell[1] and Alisa Herrero[2]

[1]       Mr. Peter O'Donell, reporter.

[2]       Mrs Alisa Herrero MSc development studies, master in political sciences, consultant.

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