"A big boost for Marfan syndrome research" by Lauriane Janssen


2018 /Thursday, October 18th, 2018

1. can you introduce yourself?

My name is Lauriane Janssen. I have Marfan Syndrome and since 2017 I have been the President of the European Network of Marfan Associations (Marfan Europe Network). I have been active for almost 10 years with the Belgian Association of Marfan Syndrome as a scientific contact for Marfan issues, through my training in biomedical sciences.

2. Why do you support the Projet 101 Génomes Marfans of the Fondation 101 Génomes ?

For many years, I have been closely researching the Marfan syndrome, and, by my profession as a scientific researcher, I understand the difficulties encountered in the research.

The main causes of problems in research are often: funding, collaborations and access to samples/patients. Thanks to the formation of P101G and F101G, these three problems have already received a big boost! First an excellent group of specialists was gathered, and they were able to define the scientific criteria necessary for the success of this project. secondly, F101G has already succeeded in gathering a large portion of the funding needed to launch the project, and will continue to contribute to funding throughout the project. third, the collaborations of both the Marfan medical centres and the International Marfan associations throughout the project, will allow to recruit patients meeting the preliminary inclusion criteria defined by the Scientific Committee, and increase the cohort as these criteria evolve over the course of the project. These features are the ingredients of choice for the success of the P101G.

3. as a person concerned with Marfan syndrome, what do you expect from the 101 genomes project?

In all areas, I think it is always better to understand how something works, so that it can be improved. In the context of Marfan syndrome, the discovery of fibrillin 1 as the cause of the disease in 1991, was a huge discovery for patients, but did not allow to find a treatment, and there are still piles of areas of shadow as to the reason of the different m phenotypic anifesations caused by the same mutation in the same family. Understanding these differences would give a boost to the assessment of personalized risks (and treatments) for the affected individuals and would open the door to future possibilities of treatment of the syndrome.

4. as a scientist, what do you expect from the Projet 101 Génomes Marfans of the Fondation 101 Génomes ?

In addition to the answers that the P101G will bring, I hope, to the world "Marfan", the P101G pave the way for similar research on other (rare) diseases and understanding of them. In the current state of scientific knowledge/possibilities, I believe that Genomic sequencing (at a reduced price) will allow to answer many scientific questions for all sorts of diseases.

There is nothing like developing new technologies or large-scale applications for available technologies to answer questions that have remained unresolved for so long!

 

 

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