{"id":946,"date":"2023-02-15T15:47:29","date_gmt":"2023-02-15T14:47:29","guid":{"rendered":"https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/?post_type=testimony&#038;p=946"},"modified":"2024-02-22T11:22:51","modified_gmt":"2024-02-22T10:22:51","slug":"guillaume-dorval","status":"publish","type":"testimony","link":"https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/en\/testimony\/guillaume-dorval\/","title":{"rendered":"Guillaume DORVAL"},"content":{"rendered":"\n<p class=\"has-primary-color has-text-color has-gros-font-size\">In order to better understand the renal pathologies of the patients he follows at the Necker-Enfants malades Hospital, Guillaume Dorval, a Pediatric Nephrologist, decided to join the Institut <em>Imagine<\/em> and to do a science thesis in the Hereditary Renal Diseases laboratory co-directed by Prof. Corinne Antignac and Dr. Sophie Saunier. The Health-Science program (MD-PhD) created by the Institute, from which he benefited, is intended to support young Physicians or Pharmacists in their research projects, within the framework of a science thesis.<\/p>\n\n\n\n<div style=\"padding:56.25% 0 0 0;position:relative;\"><iframe src=\"https:\/\/player.vimeo.com\/video\/896603329?badge=0&amp;autopause=0&amp;player_id=0&amp;app_id=58479\" frameborder=\"0\" allow=\"autoplay; fullscreen; picture-in-picture\" style=\"position:absolute;top:0;left:0;width:100%;height:100%;\" title=\"Portrait_Dorval_Imagine\"><\/iframe><\/div><script src=\"https:\/\/player.vimeo.com\/api\/player.js\"><\/script>\n\n\n\n<h2 class=\"wp-block-heading\">What led you to become a medical researcher?<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignright size-large is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"681\" src=\"https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/wp-content\/uploads\/2023\/01\/Photo-11-1-1024x681.jpg\" alt=\"\" class=\"wp-image-815\" style=\"width:256px;height:170px\" srcset=\"https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/wp-content\/uploads\/2023\/01\/Photo-11-1-1024x681.jpg 1024w, https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/wp-content\/uploads\/2023\/01\/Photo-11-1-300x200.jpg 300w, https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/wp-content\/uploads\/2023\/01\/Photo-11-1-768x511.jpg 768w, https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/wp-content\/uploads\/2023\/01\/Photo-11-1-1536x1022.jpg 1536w, https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/wp-content\/uploads\/2023\/01\/Photo-11-1-2048x1363.jpg 2048w, https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/wp-content\/uploads\/2023\/01\/Photo-11-1-751x500.jpg 751w, https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/wp-content\/uploads\/2023\/01\/Photo-11-1-550x366.jpg 550w, https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/wp-content\/uploads\/2023\/01\/Photo-11-1-451x300.jpg 451w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div>\n\n\n<p>During my residency, I did a Master 2 in genetics in <strong>Corinne Antignac<\/strong>&#8216;s team, a pioneer in the genetics of nephrotic syndromes. It is at the end of this Master 2 that I decided to continue my research work in this laboratory. <strong>Thanks to the Institute&#8217;s Health-Science program<\/strong>, I was able to carry out a research project while investing 100% of my time in the life of the laboratory.<\/p>\n\n\n\n<p>I chose to do this double degree in medicine and research because, as a clinician, I have to follow young patients with kidney diseases, and research is essential to better understand and treat these diseases. The genetic component in children with kidney failure, sometimes at end-stage, is very important.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Which disease do you particularly focus your work on?<\/h2>\n\n\n\n<p>Some children suffer from a condition known as &#8220;nephrotic syndrome&#8221;, characterized by an inability of the kidneys to retain protein, which is then eliminated in the urine along with waste products. Proteins are essential for the body&#8217;s metabolism, and their leakage immediately results in the development of oedemes, characterized by the presence of water in the tissues.<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignleft size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"1042\" height=\"788\" src=\"https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/wp-content\/uploads\/2023\/01\/fillette.jpg\" alt=\"\" class=\"wp-image-788\" style=\"width:261px;height:197px\"\/><\/figure>\n<\/div>\n\n\n<p>For some of these children, the presence of one or more mutations in genes that are essential for the proper functioning of the kidney is the cause of the disorder. <strong>These patients slowly evolve towards end-stage renal failure<\/strong>, and enter a renal transplantation project in the more or less long term. The transplant involves a very heavy immunosuppressive treatment for life. Even in cases of success, a new transplant is needed after a few years, the average life span of a graft being 10-15 years.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">How can it be cured?<\/h2>\n\n\n\n<p>Trying to find the genetic origin of their disease, thanks to research, is the hope of finding a diagnosis, but also of understanding the mechanisms from a mutation on a gene to the appearance of the clinical expression of the disease (in this case, the genetic nephrotic syndrome). <strong>It is by understanding the diseases that we hope to one day be able to offer a treatment adapted to each patient<\/strong>, which will allow them to keep their own kidney and <strong>avoid transplants and treatments associated with them<\/strong>.<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p class=\"has-primary-color has-text-color has-gros-font-size\">The discovery of a gene at the origin of a severe form of cortico-resistant nephrotic syndrome: the hope of a better life.<\/p>\n<\/blockquote>\n\n\n\n<h2 class=\"wp-block-heading\">What was your role?<\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignright size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"1382\" height=\"922\" src=\"https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/wp-content\/uploads\/2023\/01\/temoignage-G.-Dorval-photo-3-2.jpg\" alt=\"\" class=\"wp-image-793\" style=\"width:346px;height:231px\"\/><\/figure>\n<\/div>\n\n\n<p>As part of the Health-Science program <strong>I discovered a new gene in 2018 that causes a severe and early form of corticosteroid nephrotic syndrome<\/strong>. It adds to the panel of genes analyzed in patients with this syndrome. Some patients will therefore have their diagnosis clarified, and for families with a deleterious variant of this gene, genetic counseling will be offered in order to identify whether other family members are likely to transmit the variant, and also to suggest a prenatal diagnosis in the case of a particularly severe form.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">What are the next steps?<\/h2>\n\n\n\n<p>Since this discovery, in parallel to research on understanding the mechanisms that lead to hereditary kidney diseases, <strong>we are developing a new line of research in the laboratory centered around treating these diseases<\/strong>. These discoveries, and the dynamics of ongoing research, are <strong>a source of hope for the sick children and their families<\/strong>, signs of hope that are regularly shared with them in consultation.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Being a Medical Researcher to better diagnose, understand, and one day treat<\/p>\n","protected":false},"featured_media":767,"template":"","meta":{"_acf_changed":false},"cat-testimony":[46],"class_list":["post-946","testimony","type-testimony","status-publish","has-post-thumbnail","hentry","cat-testimony-researcher"],"acf":[],"_links":{"self":[{"href":"https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/en\/wp-json\/wp\/v2\/testimony\/946","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/en\/wp-json\/wp\/v2\/testimony"}],"about":[{"href":"https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/en\/wp-json\/wp\/v2\/types\/testimony"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/en\/wp-json\/wp\/v2\/media\/767"}],"wp:attachment":[{"href":"https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/en\/wp-json\/wp\/v2\/media?parent=946"}],"wp:term":[{"taxonomy":"cat-testimony","embeddable":true,"href":"https:\/\/chercher-pour-chaque-enfant.institutimagine.org\/en\/wp-json\/wp\/v2\/cat-testimony?post=946"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}