"Of the three billion letters of DNA in a genome, only a small part is understood" by Prof. Guillaume Smits

Capsule, 2018 /Friday, June 8th, 2018

1. could you introduce yourself?

I am Dr. Guillaume Smits, geneticist, with a long training in laboratory and research. Most recently, I worked for eight years at the Huderf Queen Fabiola Children's Hospital as a pediatric geneticist where I had the opportunity to meet Mr and Mrs Alderweireldt-Verboogen who created the Fondation 101 Génomes .

2. can you explain to us what is the project 101 genomes Marfan?

P101GM is based on the idea that - although today it is easy to diagnose Marfan's disease because we know the gene very well and clinical signs help to identify patients - it is difficult to understand why some patients have a presentation that may be more severe than others.

The ideal would be to customize the drug treatment for some patients and find new drug hopes.

Today, the genome is an incredibly powerful tool to seek the missing information and hope to create new knowledge in a very simple way: just sequence the genome of patients. But we need a lot of patients.

3. Why did you agree to be part of the Scientific Committee of the project 101 genomes Marfan of the Fondation 101 Génomes ?

There I think it was a no-brainer: having met Mr. and Mrs. Alderweireldt-Verboogen as a genetic doctor for them, I had to answer their questions. What happened very naturally was that, given the curiosity of the parents, I began to spend time with them to give them the means to understand the disease, to understand genetics, to understand what a rare disease was.

And they went on, they went further in understanding and they went into a very impressive scientific reading. Now, Mr. Alderweireldt has a knowledge that makes him able to write journal scientific articles, to understand almost everything that researchers and doctors do.

After Mr and Mrs Alderweireldt-Verboogen have engaged in the F101G and it was obvious that to follow them in their project which I hope will go far and will be able to carry the message of the importance of knowledge of the genome, the importance of the genome for patients with rare diseases and the importance of the genome to bring hopes for personalized therapeutics.

4. as a scientist, what do you expect from project 101 genomes Marfan?

As a scientist or a physician, the advantage of the whole genome today is that it allows for a single tool that makes both clinical diagnosis and, at the same time, gives an almost infinite research capacity. Of the three billion letters in a genome's DNA, only a small part of it is included. It's like having more and more powerful telescopes: you end up with an incredible amount of data that scientists and clinicians will then be able to put into perspective, accumulating data on patients' symptoms, allowing make strong links between genomic variants, disease biology and patient phenotypes. Once you have the patient's genome, it is present for years and years, you will be able to do and redo research in their three billion bases.

The advantage of the P101GM project is that a simple sequencing of a high quality genome will allow years and years of research in many directions; the research resource will be available, stable, and both scientists and clinicians will be able to use it. This simplicity is the strength of the F101G project: trying to get money to sequence genomes and make them available in a controlled way to scientists or clinicians who need them to advance knowledge about Marfan disease or perhaps extend it to other rare types of disease that could also benefit from knowledge of the genome.

All the incredible work of Mr and Mrs Alderweireldt-Verboogen is to have already managed to put around the table a very beautiful consortium of Belgian and French scientists. They are in the process of extending it to the Netherlands, to England to all of Europe. As far as genomes are concerned, it also gives knowledge, visibility to the general public. The F101G highlights the simplicity of the genome and the incredible resource it represents for future research.

5. What is the key element for you that the project 101 genomes Marfan is important for Marfan patients? What about other rare diseases?

The P101GM is the pilot project of the F101G which is called to face for the first time all the logistical, legal, political, financial, etc. problems to get around the table all the different necessary forces (scientists and others). All this can be learned through this pilot project. Thus, the F101G will have acquired a knowledge that will allow it to help much more quickly other projects that would deal with other diseases either rare or even a little more common but that would also require sequencing the genome of patients.

Professor Guillaume Smits, M.D. PhD
Department of Genetics' Director, Erasme Hospital, ULB Center of Human Genetics,
Free University of Brussels, Brussels, Belgium
(IB)2 Interuniversity Institute of Bioinformatics in Brussels, Free University of Brussels, Brussels, Belgium




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