Big data and artificial intelligence, sources of solutions for rare diseases


GEMVAP, 2019

During the day of June 17, 2019, a post dedicated to the application of AI in the context of rare diseases was broadcast several times on the radio station "La Première". This post cites the action of Fondation 101 Génomes as an example. You will find the transcript below and you can listen to it by following this link. […]

November 12, 2019

"Together to save 10 years of research" by Mrs Ludivine VERBOOGEN and Mr Romain ALDERWEIRELDT


ABSM 20 Gala, 2019

Mrs Ludivine VERBOOGEN and Mr Romain ALDERWEIRELDT, founders of F101G, explain the common objective of the ABSM and F101G to win 10 years of research dedicated to Marfan Syndrome during the Gala of the 20th anniversary of the Belgian Association of Marfan Syndrome (ABSM) which took place on October 5th, 2019.

October 13, 2019

Find all the photos of the ABSM 20 Years Gala


ABSM 20 Gala, 2019

ABSM 20th anniversary gala (Part 1/2) (Photo credits: Christophe Danaux | www.birdy.photo | birdy@christophedanaux.be | birdy@christophedanaux.be) ABSM 20th anniversary gala (Part 2/2) (Photo credits: Fabien Chevigne | fabien_chevigne@hotmail.fr)  

October 13, 2019

"Artificial Intelligence (AI) for the diagnosis of Marfan Syndrome" by Professor Guillaume Smits


ABSM 20 Gala, 2019

Professor Guillaume SMITS, Université Libre de Bruxelles, member of the scientific committee of the 101 Marfan Genomes Project, explains the tool "GEne specific Missense VAriant Predictor (GEMVAP)" developed thanks to the F101G and the role of artificial intelligence in the diagnosis of Marfan syndrome during the Gala of the 20 years of the Belgian Association of Marfan Syndrome [...].

12 October 2019

"An evocation of current research and future perspectives" by Professor Bart Loeys


ABSM 20 Gala, 2019

Professor Bart LOEYS, University of Antwerp & Co-Chairman of the Scientific Committee of the 101 Genomes Marfan Project, presents the state of research initiated by the F101G: Genome-wide Epistasis for cardiovascular severity in Marfan Study (GEMS) and his vision of the future at the Gala of the 20 years of the Belgian Association for Marfan Syndrome.

12 October 2019

"The long road to precision medicine for Marfan syndrome" by Professor Julie De Backer


ABSM 20 Gala, 2019

Professor Julie DE BACKER, University of Ghent & Co-Chair of the Scientific Committee of the 101 Marfan Genomes Project, traces the "long road to precision medicine for Marfan Syndrome" during the Gala of the 20 years of the Belgian Marfan Syndrome Association (BMSA) that took place in Brussels on [...].

12 October 2019

"A new approach to crowdfunding" by Mrs Alisa HERRERO and Mr Thomas CARTON DE WIART


ABSM 20 Gala, 2019

Mrs. Alisa HERRERO and Mr. Thomas CARTON DE WIART present "Impatients", the tool that will allow to gather the necessary funds for the research dedicated to Marfan syndrome and to support the action of patient associations during the Gala of the 20 years of the Belgian Association of Marfan Syndrome (ABSM) that took place in Brussels on the occasion of the 20th anniversary of the [...]

12 October 2019

Declaration of cooperation for the 101 Genomes project dedicated to Marfan syndrome


ABSM 20 Gala, 2019

During the Gala for the 20th anniversary of the Belgian Marfan Syndrome Association (ABSM), which took place on 5 October 2019 at the Palais des Académies, the Presidents of the Belgian, Luxembourg and French patient associations officially signed a declaration of cooperation for the 101 Genomes Project dedicated to Marfan Syndrome. Charter" version [...]

October 13, 2019

Mrs Olga Dubois and Mr Gabriel Diaconu perform Sergeï Rachmaninov in the Marble Gallery


ABSM 20 Gala, 2019

The Gala for the 20th anniversary of the Belgian Association of Marfan Syndrome (ABSM) ended in apotheosis with a performance of Sergeï Rachmaninov by Mrs Olga Dubois and Mr Gabriel Diaconu in the beautiful Marble Gallery of the Palais des Académies. Together, they interpreted 4 pieces: 1) Сирень / Siren / Lilac [...]

October 13, 2019

Watch the speakers' speeches at the ABSM 20 Years Gala


ABSM 20 Gala, 2019

Mrs. Yvonne JOUSTEN and Mr. Léon BRANDT " ABSM is 20 years old! "Prof. Anne DE PAEPE " ABSM, 20 years of research support " Prof. Julie DE BACKER " The long road to precision medicine for the MFS " Ludivine VERBOOGEN and Romain ROMAN " The ABSM is 20 years old !

12 October 2019

Acknowledgements


ABSM 20 Gala, 2019

Dear all, Thanks to you, the Anniversary Gala Day of the Belgian Marfan Syndrome Association on 5 October 2019 was a great success! Success in terms of attendance, donations, quality of interventions but especially in terms of emotions and sharing. You will be able to (re)live this day by following this [...]

October 13, 2019

Fourth meeting of the F101G Scientific Committee


ABSM 20 Gala, Scientific Committee, 2019

On 5 October 2019, from 9 a.m. to 1 p.m., at the Palais des Académies, the fourth meeting of the Scientific Committee of Fondation 101 Génomes was held. Physicians and researchers Catherine Boileau, Guillaume Jondeau, Anne De Paepe, Julie De Backer, Bart Loeys, Guillaume Smits, Paul Coucke and Aline Verstraeten was present at that meeting...

October 13, 2019

Invitation to the ABSM 20 Years Gala at the Palais des Académies on 5 October 2019


ABSM 20 Gala, 2019

Dear supporters, We are delighted to invite you to the Gala that will take place on Saturday 5 October 2019 from 1.30 p.m. at the Palais des Académies (Rue Ducale 1, 1000 Brussels) on the occasion of the 20th anniversary of the Belgian Marfan Syndrome Association (BMSA). The ABSM has decided to associate us closely with this event.

September 20, 2019

The Fonds Baillet-Latour rewards professors Julie de backer and Catherine Boileau


2019

On April 25, 2019, the Fonds Baillet Latour awarded its credit for medical research 2019 of a total amount of 750,000 euros to Professor Julie de backer (University of Ghent and co-Chair of the Scientific Committee of the project 101 genomes Marfan) and its Prix de la Health 2019 in the amount of 250,000 euros to the Professor [...]

April 25, 2019

Annual scientific day of the Association Marfan Luxembourgeoise DEN-I


2019

DEN-I, the Luxembourg Marfan Syndrome Association, organised its annual scientific day in Luxembourg on Saturday 23 March 2019. The ABSM was invited to participate in this day during which the 101 Genomes Project dedicated to Marfan syndrome was presented to the patients members of the Luxembourgish association as well as to the medical staff who are working on the project.

March 23, 2019

Third meeting of the Scientific Committee of F101G


Scientific Committee, 2019

On 22 February 2019, the third meeting of the Scientific Committee of the 101 Genome Project on Marfan Syndrome took place at the premises of Bank Delen in Brussels. During this meeting, the scientists agreed on the phenotypic criteria to be collected and discussed a proposal for algorithmic assistance in the collection of genomes for Marfan syndrome.

February 22, 2019

Participation of the F101G in the launch of the "Global Commission" (Takeda, Eurordis and Microsoft Consortium)


2019

On 20 February 2019 the Global Commission's duplex launch by Eurordis, Microsoft and Takeda took place jointly in Brussels and New York. The Global Commission aims to shorten the diagnostic odyssey of rare disease patients. Romain was invited at this event to talk about the odyssey that has [...]

February 20, 2019

"Tame the genome to advance research by 10 years" by Romain Alderweireldt


2018

It is with pleasure that my wife and I responded to Véronique Vrinds' invitation to prepare a special issue of the newspaper "Le Coeur & la Main" dedicated to the "101 Marfan Genomes Project" (hereafter P101GM) of the " Fondation 101 Génomes " (hereafter F101G). P101GM is the result of the ABSM's action and it would certainly not exist in [...].

October 18, 2018

"Our dream is to advance research by 10 years" by Ludivine Verboogen


Capsule, 2018

1. can you introduce yourself? My name is Ludivine Verboogen, I founded the F101G with my husband Romain Alderweireldt and I am the mother of Aurélien who is suffering from Marfan syndrome. 2. can you explain to us what is the project 101 genomes Marfan? The P101GM consists in setting up a bio-informatics platform [...]

June 8, 2018

"Transforming a drama into a creative force" by Prof. Guillaume Jondeau


Capsule, 2018

1. can you introduce yourself? My name is Guillaume Jondeau, I am a cardiologist at the Bichat hospital in Paris. I am responsible for the national reference centre for Marfan syndrome and related diseases which is held at the Bichat hospital also, of the French sector of rare vascular diseases and of the European sector which is called [...]

June 8, 2018

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


Capsule, 2018

1. could you introduce yourself? I am Dr. Guillaume Smits, geneticist, with a long training in laboratory and research. Lately, I worked for eight years at the Huderf children's Hospital Queen Fabiola as a pediatric geneticist where I had the opportunity to meet Mr and Mrs Alderweireldt-Verboogen who created the Fondation 101 Génomes . 2. [...]

June 8, 2018

"Genome sequencing will advance research and make an important contribution to patient care" by Prof. Bart Loeys


Capsule, 2018

1. can you introduce yourself? I'm Bart Loeys. I am a clinical geneticist at the Centre for medical genetics at the University of Antwerp. I have been doing research in the field of Marfan syndrome and related diseases for many years. 2. can you explain the project 101 genomes Marfan? The syndrome [...]

June 8, 2018

"Trying to better treat and prevent the complications of the disease" by Prof. Catherine Boileau


Capsule, 2018

1. can you introduce yourself? I'm Catherine Boileau. I am a geneticist and I run the Department of Genetics at the Bichat hospital in Paris. 2. can you explain to us what is the project 101 genomes Marfan? The P101GM consists in achieving, for the first time, in a selected number from 101 patients [...]

June 8, 2018

"For me, better informing and treating the patient is the most important goal" by Prof. Julie De Backer


Capsule, 2018

1. can you introduce yourself? I'm Julie de backer. I am a cardiologist and clinical geneticist at the Ghent University Hospital. 2. can you explain to us what is the project 101 genomes Marfan? The P101GM is intended to correlate clinical and genetic damage in Marfan syndrome in [...]

June 8, 2018

"A pilot project that extends to other diseases" by Dr. Verboogen


Capsule, 2018

Can you introduce yourself? My name is Michel Verboogen, I am the President of F101G and I am also Aurélien's grandfather. In life, I'm a doctor specialising in psychiatry. 2. Can you explain to us what the Marfan Genome 101 Project is all about? P101GM is a project that consists of comparing data [...]

June 8, 2018

"It's a technological revolution! " by Prof. Paul Coucke


Capsule, 2018

1. can you introduce yourself? My name is Paul Coucke . I am a professor at the University of Ghent in the Department of medical genetics where I am responsible for the connective tissue laboratory. I supervise Diagnostics in laboratories, i.e. samples sent to us for diagnostic reasons, and I also supervise research in [...]

June 8, 2018

"Individuals carrying the same mutation can have a wide range of phenotypes" by Aline Verstraeten, UZA


Capsule, 2018

1. Can you introduce yourself? My name is Aline Verstraeten. I am a postdoctoral researcher at the University of Antwerp. I first did a PhD on Parkinson's disease, then I moved on to research on pathologies of the aorta. My focus is on the search for new genes for syndromic thoracic aortic aneurysm and on the development of new genes for the aortic aneurysm of the thoracic aorta.

June 8, 2018

"F101G fills a gap that still existed, that of support for genetic research" by Cécile Chabot


Capsule, 2018

1. could you introduce yourself? My name is Cécile Chabot. I have Marfan syndrome. I participated in the activities of ABSM, I founded this association with other directors. I am particularly interested in F101G for the hope that it gives us in terms of fundamental research. 2. Why do you support the project 101 genomes Marfan [...]

June 8, 2018

"A unifying project for patients' associations, a European minimum" by Stéphanie Delaunay


Capsule, 2018

1. Can you introduce yourself? My name is Stéphanie Delaunay, I am president of the French Association Marfans. 2. Why do you support the Marfan Genome 101 Project at Fondation 101 Génomes ? The French association Marfans has decided to support this project from the beginning because it is an ambitious project that will allow researchers and scientists working on the Marfan Genome 101 to [...]

June 8, 2018

"A unique and unprecedented example of patient participation in scientific research" by Prof. Anne De Paepe


2018

Rare genetic diseases, such as Marfan's syndrome, have long been a neglected field of medicine. Because of their rarity, the knowledge and interest of the medical profession are often inadequate, so that many patients go through a long period of research to obtain an accurate diagnosis, a follow-up and [...]

October 18, 2018

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


2018

Genetic diseases are not invincible Every day, the scientific community is discovering new approaches to combat congenital diseases. A Belgian initiative is being set up to develop an innovative approach that will make a major contribution to this goal. Until recently, people suffering from a genetic disease could not do much more than they could do [...].

October 18, 2018

The project 101 genomes Marfan seen by Dessie Lividikou and Laurens Ivens


2018

Our history Our son Sam was born on September 24, 2017. He has Neonatal Marfan Syndrome, a severe variant of Marfan Syndrome. Marfan Syndrome is a progressive disorder in which the connective tissue in the body is not produced properly. This mainly affects the heart, lungs, skeleton and [...]

October 18, 2018

"Faster diagnosis and better care" by Véronique Vrinds, ABSM


2018

President of the ABSM As President of the Belgian Marfan Syndrome Association (ABSM), I feel it is essential to support the 101 Genomes Project of Fondation 101 Génomes. It is an innovative project that will allow us to better understand the disease and thus to better control it. This better understanding gives a lot of hope for the future of Marfan Syndrome.

October 18, 2018

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


2018

1. Can you introduce yourself? My name is Lauriane Janssen. I have Marfan Syndrome and since 2017 I am the President of the Marfan Europe Network. I have been active for almost 10 years with the Belgian Marfan Syndrome Association as a scientific contact for Marfan Syndrome sufferers in Belgium.

October 18, 2018

"The future remains uncertain and exciting" by Dessie Lividikou


2018

Why do you support the 101 Marfan Genomes Project? My name is Dessie Lividikou and I'm Sam's mom. When he was born on September 24, 2017, we learned that Sam had Neonatal Marfan Syndrome. A severe progressive connective tissue dysfunction. Doctors told us that most children...

October 18, 2018

"A source of inspiration" by Prof. Anne De Paepe


2018

1. Can you introduce yourself? My name is Anne De Paepe, I'm a professor of human genetics at the University of Ghent and head of the department of medical genetics in Ghent, where I've set up a research unit and a clinical service specialising in connective tissue diseases, including [...].

October 18, 2018

Fondation 101 Génomes, Fonds 101 Génomes & Projet 101 Génomes Marfans


2017

Fondation 101 Génomes (F101G) The Fondation 101 Génomes was created in November 2017 by the parents of a little boy with a rare disease. The aim of F101G is to promote research by providing scientists with a cross-referenced database containing genomic and phenotypic data of patients with rare diseases.

December 12, 2017

At the origin


2017

Our son Aurélien, born in 2015, is suffering from a spontaneous form of Marfan syndrome diagnosed during his first year of life. Marfan syndrome is the result of connective tissue damage[1] caused by a deleterious mutation of the FBN1 gene on chromosome 15, which results in the fibrillin protein encoded by the FBN1 gene being deleted from the body's immune system.

September 3, 2015