{"id":4065,"date":"2021-05-31T08:38:48","date_gmt":"2021-05-31T06:38:48","guid":{"rendered":"https:\/\/f101g.org\/genome4brussels-ai-genomics-rare-diseases\/"},"modified":"2026-08-11T13:14:36","modified_gmt":"2026-08-11T11:14:36","slug":"genome4brussels-ai-genomics-rare-diseases","status":"publish","type":"post","link":"https:\/\/f101g.org\/en\/genome4brussels-ai-genomics-rare-diseases\/","title":{"rendered":"Genome4Brussels: AI, Genomics & Rare Diseases"},"content":{"rendered":"<p>In 2019, the 101 Genomes Foundation, the <em>Interuniversity Institute Of Bioinformatics Brussels <\/em>(IB2), the <em>ULB Center of Human Genetics<\/em> (CHG) and the <em>ULB Machine Learning Group<\/em> (MLG) took part in a call for projects launched by Innoviris with the &#8220;Genome4Brussels&#8221; project. As part of this project, they decided to work together to create an ecosystem that will optimize the development of bioinformatics tools for genome analysis, and facilitate the transfer to citizens of the innovation and knowledge acquired during the project. <\/p>\n<h3><strong>Project<\/strong><\/h3>\n<p><strong>Genome<\/strong><strong>4<\/strong><strong>Brussels<\/strong>. Genome4Brussels is a joint project that aims to create an ecosystem in the Brussels region that combines: <\/p>\n<ul>\n<li>optimal conditions for hosting and sharing genomic data led by patient representatives (101 Genomes Foundation);<\/li>\n<li>medical and genomic expertise (CHG-IB2) and;<\/li>\n<li>expertise in bioinformatics and artificial intelligence\/IA (IB2-MLG).<\/li>\n<\/ul>\n<p>This ecosystem will enable the emergence of a research platform dedicated to the development of bioinformatics tools based on &#8220;transparent&#8221; AI (White Box) to assist doctors and researchers in the field of rare diseases.<\/p>\n<p>As part of the Innoviris call for tenders, a research platform is being set up, two bioinformatics tools are being developed and the conditions for transferring these technologies to the public are being created.<\/p>\n<h3><strong>Partners<\/strong><\/h3>\n<p><strong>101 Genomes Foundation<\/strong>. In 2017, the 101 Genomes Foundation embarked on a quest to find genomic superheroes whose genes protect them from the effects of certain rare diseases. To carry out this quest, the 101 Genomes Foundation begins by developing a database from which scientists can explore the human genome in search of protective (or aggravating) genes that explain the variability of rare diseases. Such a discovery would enable us to provide better diagnoses and envisage new treatments that replicate the protective effects (or limit the aggravating effects) identified. The 101 Genome Foundation&#8217;s pilot project is dedicated to Marfan syndrome. This pilot project is supported by several European patient associations and is backed by leading scientists.     <\/p>\n<p><strong>IB2-CHG<\/strong>. The<em>Interuniversity Institute Of Bioinformatics Brussels <\/em>(IB2) and the<em>ULB Center of Human Genetics<\/em> (CHG) are jointly dedicated to the study of rare diseases. Their common mission is to improve the diagnostic quality of genetic tests, in order to enhance clinical follow-up, treatment and therapeutic advice. Their areas of research are part of this overall objective, and involve identifying the genetic origins of rare diseases that are still insufficiently understood. IB2 and CHG are developing bioinformatics tools to explore and analyze patients&#8217; genomic data in innovative ways, thereby improving the quality of genetic\/genomic tests.    <\/p>\n<p><strong>IB2-MLG<\/strong>. The <em>ULB Machine Learning Group<\/em> (MLG) specializes in computer science, artificial intelligence, bioinformatics, computational biology, genetics, molecular biology and medicine. In the medical context, IB2 and MLG use methods combined with statistical scores that create a transparent &#8220;White-Box&#8221; model providing explanations for the decision made by the bioinformatics tools they develop with AI. It is in fact inconceivable to be satisfied with a basic AI approach (which provides results without explanation, &#8220;Black-Box&#8221;) in the context of developing bioinformatics tools intended to assist clinicians.   <\/p>\n<p><strong>Fair Genomics (FairGX)<\/strong>. During the process, Innoviris asked the consortium to set up the <em>Fair Genomics<\/em> structure to support the project and thereby enable a transfer to citizens of the technologies and innovation developed thanks to Genome4Brussels. <em>Fair Genomics<\/em> is 100% owned by the 101 Genomes Foundation, which controls it entirely. <\/p>\n<p><strong>Ecosystem<\/strong>. The partners intend to set up a virtuous circle to fuel and fund research and advance science. <\/p>\n<h3><strong>Marfan syndrome research funded from 2020 to 2023<\/strong><\/h3>\n<p><strong>Innoviris<\/strong>. The<em>&#8216;Genome4Brussels<\/em>&#8216; project was accepted by Innoviris at the end of 2020. Innoviris will finance part of the project, which will enable teams from IB2, CHG and MLG to work for three years (2020-2023) on the pilot project dedicated to Marfan syndrome.  <\/p>\n<p>&nbsp;<\/p>\n<hr>\n<p>&nbsp;<\/p>\n<p>In May 2021, Innoviris published an article dedicated to Genome4Bruxelles that can be consulted by following this link: <a href=\"https:\/\/innoviris.brussels\/fr\/stories\/ludivine-verboogen-et-romain-alderweireldt\" target=\"_blank\" rel=\"noopener\">https:\/\/innoviris.brussels\/fr\/stories\/ludivine-verboogen-et-romain-alderweireldt<\/a>.<br \/>\nThe article is also reproduced here:<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"aligncenter size-full wp-image-1515\" src=\"https:\/\/f101g.org\/wp-content\/uploads\/2020\/12\/CD_2019_10_05_14_18_13-2.jpg\" alt=\"\" width=\"1798\" height=\"1200\"><\/p>\n<h2><strong>Ludivine Verboogen and Romain Alderweireldt<\/strong><\/h2>\n<p>&#8220;<em style=\"font-size: 16px;\">There&#8217;s a paradox in rare disease research. Financing them is always a problem. But at the same time, research into rare diseases has led to significant advances in other, more common diseases. The added value that can be derived from this research goes far beyond the scope of rare diseases. If we analyze things very coldly, we can say that we&#8217;re missing out on enormous economies of scale by funding this research on rare diseases poorly, if at all.    <\/em><span style=\"font-size: 16px;\">&#8220;.  <\/span><\/p>\n<div class=\"region region-content\">\n<section id=\"block-system-main\" class=\"block block-system clearfix\">\n<article id=\"node-635\" class=\"node node-story clearfix\">\n<div class=\"field field-name-body field-type-text-with-summary field-label-hidden\">\n<div class=\"field-items\">\n<div class=\"field-item even\">\n<p>Romain Alderweireldt and Ludivine Verboogen need only a few words to convey the full meaning and impact of their shared commitment to the 101 Genomes Foundation for society. Their ambition? To provide scientists with a bioinformatics platform to move forward in genomic research, one of the keys to better understanding rare diseases.  <\/p>\n<h3><strong>Life&#8217;s hazards give rise to a magnificent drive for the public good<\/strong><\/h3>\n<p>The foundation&#8217;s story actually began on September 3, 2015 with the birth of Aur\u00e9lien, Ludivine and Romain&#8217;s son.<\/p>\n<p>The joy of the first days is quickly followed by worry: doctors suspect Marfan syndrome, a rare disease that can affect connective tissue very severely, with consequences notably for the heart.<\/p>\n<p>On August 4, 2016, 11 months later, a genetic analysis confirms the bad news: Aur\u00e9lien carries a spontaneous mutation in the <em>FBN1<\/em> gene. He does indeed have a severe form of Marfan syndrome. <\/p>\n<h3><strong>Late diagnosis and tools to be invented<\/strong><\/h3>\n<p><em style=\"font-size: 16px;\">It is a spontaneous and extremely rare variant of Marfan syndrome. This played a role in the 11-month delay in making the diagnosis: the reference center contacted by the geneticist who was following Aur\u00e9lien to carry out a genetic analysis was still using gene-by-gene analysis techniques, even though genomic analysis techniques existed <\/em><span style=\"font-size: 16px;\"> &#8221; explains Ludivine. &#8221;   <\/span><em style=\"font-size: 16px;\">And it was during the many discussions we had with this geneticist, Professor Guillaume Smits, that we understood that the clinic lacked physical and bioinformatics tools to take advantage of advances in genomic research, both in terms of diagnosis and in the development of new treatments<\/em><span style=\"font-size: 16px;\">, Romain adds.<\/span>&#8221;<\/p>\n<p>&#8221; <em>Six years later, it is possible to sequence the entire human genome and identify mutations across all our genes at an increasingly affordable cost. But the initial cost of the machines is still very high, and genome sequencing has not yet become routine in research or clinical practice. A sequenced genome generates such a volume of data that it is absolutely impossible to process it manually: a genome corresponds to nearly 300 gigabytes of data! You need algorithmic tools, artificial intelligence and a highly specialized team to get anything out of it. This tandem formed between ICT and biological research even has a name: bioinformatics.    <\/em>  &#8221;<\/p>\n<h3><strong>Turning confusion into positive energy<\/strong><\/h3>\n<p>For this couple of lawyers, realizing the need to invest in genomics and bioinformatics was a trigger. Ludivine and Romain turned their distress into positive energy with one goal: to advance research and clinical practice, and help bring about treatments that will help Aur\u00e9lien and other children affected by rare diseases. <\/p>\n<h3><strong>In search of the protective gene<\/strong><\/h3>\n<p><em style=\"font-size: 16px;\">Romain started devouring scientific studies. That&#8217;s how he came across the &#8216;Resilient Project&#8217; and its reanalysis of nearly 600,000 exomes (the coding part of the genome). Many rare diseases, and Marfan syndrome in particular, are caused by pathogenic mutations, or if you prefer &#8216;anomalies&#8217;, in genes.  <\/em><span style=\"font-size: 16px;\">explains Ludivine<\/span><em style=\"font-size: 16px;\">.<\/em><\/p>\n<p>&#8221; <em>By reanalyzing the data at its disposal, this study identified 13 adult carriers of a genetic anomaly that should have made them very ill, or even taken them away during childhood. These 13 people had reached adulthood <\/em> &#8220;, continues Romain. &#8221;   <em>Why? The presence of other genes with a protective effect counteracting the disease could be one explanation. Studying the genome of these people could therefore be the key to better understanding this protection mechanism. And this understanding could make it possible to develop drugs or new treatments, for example by drawing on the proteins produced by these genes.   <\/em>  &#8221;<\/p>\n<p>Ludivine: &#8221;  <em>Romain then decided to replicate this approach in the specific context of Marfan syndrome. And something incredible happened: in the global reference genomic database (gnomAD), he managed to find carriers of pathogenic mutations who were supposed to have a severe form of Marfan syndrome and who apparently did not. It then became clear to us that if we could identify a protective gene, we could replicate its effects to develop a treatment.    <\/em>&#8221;<\/p>\n<h3><strong>The 101 Genomes Foundation and its pilot project<\/strong><\/h3>\n<p>And in 2017, Ludivine and Romain launched the 101 Genomes Foundation.<\/p>\n<p>The objective? To develop a bioinformatics platform capable of hosting genomic data and cross-referencing it with the medical records of people affected by rare diseases and &#8220;control&#8221; volunteers to better understand gene interactions within the genome. <\/p>\n<p>Very quickly, a pilot project is launched: the 101 Genomes Marfan project, i.e., the setting up of a cohort of 101 patients with Marfan syndrome, which serves as the basis for the research work. It quickly became clear to them that 101 genomes would only be a start, and that they had a crucial need to surround themselves with knowledgeable scientists. <\/p>\n<p>The scientific committee at the Foundation&#8217;s helm is made up of the world&#8217;s leading experts in genomics, Marfan syndrome and algorithmics, including several Belgians. And on the side of these scientific experts, we admire the work accomplished by Ludivine and Romain, which they see as an unprecedented example of patient participation in scientific research. <\/p>\n<p>&#8221; <em>Work has focused on creating a cohort of patients with the same mutation to limit confounding factors (GEMS project), and in parallel on creating an algorithm designed to confirm (or refute) the pathogenic nature of mutations in the FBN1 gene. On this basis, we hope to explore the entire genome to identify modifier genes (protective or aggravating) for Marfan syndrome. Initial results are promising  <\/em> &#8220;, Romain adds. &#8221; <em>And Innoviris\u2019 intervention helped give this work a boost. <\/em>&#8221; <\/p>\n<h3><strong>GENOME4BRUSSELS, an ecosystem at the crossroads of 3 disciplines<\/strong><\/h3>\n<p>Because Innoviris\u2019 call for projects \u2018From therapeutic medicine to predictive medicine: Prediction, Prevention, Identification\u2019 was received loud and clear by Romain, Ludivine and the Foundation.<\/p>\n<p>Aiko Gryspeirt, Scientific Advisor at Innoviris: &#8221;  <em>Rare diseases still receive far too little attention. As a result, there is also a lack of funding for such research, both in terms of targeting the disease and its treatment. Patients often go from one specialist to another for months or years before getting a diagnosis. With GENOME4BRUSSELS, Ludivine and Romain have launched a fantastic initiative to make it easier to understand rare diseases, by collecting genetic data and sharing it with medical researchers and bioinformaticians in Brussels. It&#8217;s an invaluable project that can have a major impact on the lives of people with rare diseases.    <\/em>  &#8221;<\/p>\n<p style=\"text-align: center;\"><strong><em>&#8220;GENOME4BRUSSELS is a project financed by Innoviris, involving not only the Foundation, but also the Interuniversity Institute of Bioinformatics in Brussels, the Center of Human Genetics and the Machine Learning Group, all three at ULB. The aim is to create an ecosystem in Brussels dedicated to medical, genomics and bioinformatics expertise. This support has enabled our pilot project to move forward and combine our expertise to identify protective genes.  <\/em> <em>which will pave the way to better help patients&#8221;<\/em>,<br \/>\nRomain concludes.<\/strong><\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/article>\n<\/section>\n<\/div>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p><a href=\"#_ftnref1\" name=\"_ftn1\"><\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>In 2019, the 101 Genomes Foundation, the Interuniversity Institute Of Bioinformatics Brussels (IB2), the ULB Center of Human Genetics (CHG) &hellip;<\/p>\n","protected":false},"author":2,"featured_media":3390,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_feature_clip_id":0,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_publicize_message":"{title}\n\n{excerpt}\n\n{url}","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":false,"jetpack_social_options":{"image_generator_settings":{"template":"highway","default_image_id":0,"font":"","enabled":false},"version":2},"_wpas_customize_per_network":false,"jetpack_post_was_ever_published":false},"categories":[60],"tags":[],"class_list":["post-4065","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-g4bxl-en"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.2 - 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