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Le PRF joue un r\u00f4le cl\u00e9 dans la d\u00e9couverte de g\u00e8nes<\/em><\/p>\n [Boston, MA \u2013 16 avril 2003] \u2013 La Progeria Research Foundation (PRF), en collaboration avec les National Institutes of Health (NIH), a annonc\u00e9 aujourd\u2019hui la d\u00e9couverte du g\u00e8ne responsable du syndrome de Hutchinson-Gilford Progeria (HGPS ou Progeria), une maladie g\u00e9n\u00e9tique rare et mortelle caract\u00e9ris\u00e9e par une apparition de vieillissement acc\u00e9l\u00e9r\u00e9 chez les enfants.<\/p>\n \u00ab L\u2019isolement du g\u00e8ne de la prog\u00e9ria est une avanc\u00e9e majeure pour la communaut\u00e9 de la recherche m\u00e9dicale \u00bb, a d\u00e9clar\u00e9 le Dr Francis Collins, Ph. D., directeur du National Human Genome Research Institute et auteur principal du rapport, publi\u00e9 aujourd\u2019hui dans la revue Nature. \u00ab Cette d\u00e9couverte donne non seulement de l\u2019espoir aux enfants et aux familles touch\u00e9s par la prog\u00e9ria, mais elle pourrait \u00e9galement apporter un \u00e9clairage sur le ph\u00e9nom\u00e8ne du vieillissement et des maladies cardiovasculaires. \u00bb<\/p>\n Les enfants atteints de prog\u00e9ria meurent de complications li\u00e9es \u00e0 une maladie cardiovasculaire ou \u00e0 l\u2019art\u00e9rioscl\u00e9rose \u00e0 un \u00e2ge moyen de 13 ans. Les chercheurs pensent d\u00e9sormais que la d\u00e9couverte du g\u00e8ne responsable de la prog\u00e9ria pourrait apporter des r\u00e9ponses sur le processus naturel de vieillissement et les maladies cardiovasculaires. Les maladies cardiaques et les accidents vasculaires c\u00e9r\u00e9braux sont les premi\u00e8re et troisi\u00e8me causes de d\u00e9c\u00e8s aux \u00c9tats-Unis, repr\u00e9sentant plus de 40 % de tous les d\u00e9c\u00e8s.<\/p>\n En seulement un an apr\u00e8s le d\u00e9but des recherches, un groupe de scientifiques de premier plan du PRF Genetics Consortium a r\u00e9ussi \u00e0 isoler le g\u00e8ne de la prog\u00e9ria. Les principaux aspects de cette d\u00e9couverte sont le fait que la prog\u00e9ria n\u2019est pas h\u00e9r\u00e9ditaire et que des mutations du g\u00e8ne LMNA (Lamine A) sont \u00e0 l\u2019origine de la prog\u00e9ria. La prot\u00e9ine Lamine A est l\u2019\u00e9chafaudage structurel qui maintient le noyau en place et est \u00e9tudi\u00e9e depuis des ann\u00e9es. Les chercheurs pensent d\u00e9sormais que la prot\u00e9ine Lamine A d\u00e9fectueuse rend le noyau instable. Cette instabilit\u00e9 cellulaire conduit au processus de vieillissement pr\u00e9matur\u00e9 de la prog\u00e9ria.<\/p>\n En mars 1999, Scott D. Berns, docteur en m\u00e9decine et titulaire d'un MPH, et Leslie Gordon, docteur en m\u00e9decine et titulaire d'un doctorat, ainsi que leur famille, leurs amis et leurs coll\u00e8gues, ont cr\u00e9\u00e9 la Progeria Research Foundation apr\u00e8s que leur fils Sam a re\u00e7u un diagnostic de prog\u00e9ria \u00e0 l'\u00e2ge de 21 mois. Ils ont d\u00e9couvert un manque criant d'informations m\u00e9dicales sur la prog\u00e9ria et peu de projets de recherche \u00e9taient men\u00e9s pour en trouver la cause, le traitement ou le rem\u00e8de. Gordon, m\u00e9decin-chercheur, a abandonn\u00e9 sa carri\u00e8re m\u00e9dicale pour consacrer sa vie \u00e0 la recherche de r\u00e9ponses sur la prog\u00e9ria.<\/p>\n Gordon est aujourd'hui directeur m\u00e9dical de la PRF. Cette organisation \u00e0 but non lucratif a pour vocation d'aider les familles et les enfants atteints de prog\u00e9ria par le biais de la recherche m\u00e9dicale. La s\u0153ur de Gordon, Audrey Gordon, Esq., est pr\u00e9sidente et directrice g\u00e9n\u00e9rale de la fondation. La PRF a \u00e9t\u00e9 la force motrice de la d\u00e9couverte du g\u00e8ne.<\/p>\n \u00ab Les membres de la PRF ont recrut\u00e9 tous les g\u00e9n\u00e9ticiens qui ont jou\u00e9 un r\u00f4le essentiel dans la d\u00e9couverte du g\u00e8ne \u00bb, a d\u00e9clar\u00e9 Leslie Gordon, qui a \u00e9galement \u00e9t\u00e9 l\u2019un des principaux chercheurs de l\u2019\u00e9tude. \u00ab Outre la vision et l\u2019engagement des chercheurs, les dons de sang des enfants atteints de prog\u00e9ria et de leurs parents ont jou\u00e9 un r\u00f4le essentiel dans la d\u00e9couverte du g\u00e8ne. \u00bb<\/p>\n En 2001, la PRF a commenc\u00e9 \u00e0 travailler en partenariat avec les principaux instituts des National Institutes of Health (NIH), notamment le National Institute on Aging et l'Office of Rare Diseases, pour organiser conjointement un atelier. La PRF et le NIH ont r\u00e9uni des scientifiques de premier plan du monde entier pour identifier des domaines de recherche prometteurs sur la prog\u00e9ria. Cet atelier a conduit au financement de la recherche sur la prog\u00e9ria et \u00e0 la formation du PRF Genetics Consortium, un groupe de vingt scientifiques dont l'objectif commun \u00e9tait de trouver la cause g\u00e9n\u00e9tique, le traitement et la gu\u00e9rison de la prog\u00e9ria.<\/p>\n De plus, le PRF permettra bient\u00f4t de mettre au point un test diagnostique pour la maladie, l\u00e0 o\u00f9 il n\u2019existait pas auparavant*. Cette d\u00e9couverte offre de nouveaux points de d\u00e9part aux chercheurs et leur fournit une base solide pour de futures \u00e9tudes qui pourraient \u00e9galement contribuer \u00e0 la recherche d\u2019options th\u00e9rapeutiques. Il n\u2019existe actuellement aucun traitement contre la prog\u00e9ria.<\/p>\n Environ un nouveau-n\u00e9 sur quatre \u00e0 huit millions est atteint de prog\u00e9ria et, bien qu'ils naissent en bonne sant\u00e9, ils commencent \u00e0 pr\u00e9senter de nombreuses caract\u00e9ristiques de vieillissement acc\u00e9l\u00e9r\u00e9 vers 18-24 mois. Les signes de la prog\u00e9ria comprennent un retard de croissance, une perte de graisse corporelle et de cheveux, une peau vieillissante, une raideur des articulations, une luxation de la hanche, une ath\u00e9roscl\u00e9rose g\u00e9n\u00e9ralis\u00e9e, des maladies cardiovasculaires et un accident vasculaire c\u00e9r\u00e9bral.<\/p>\n La mission de la PRF est de d\u00e9couvrir la cause, le traitement et la gu\u00e9rison de la prog\u00e9ria par la recherche et l'\u00e9ducation. En tant que seule organisation au monde exclusivement d\u00e9di\u00e9e \u00e0 la recherche de traitements et de rem\u00e8des contre la prog\u00e9ria, la PRF a d\u00e9velopp\u00e9 des initiatives innovantes qui cherchent \u00e0 trouver des explications aux nombreuses questions sans r\u00e9ponse entourant ce syndrome. La PRF a financ\u00e9 des recherches scientifiques fondamentales visant \u00e0 d\u00e9couvrir la base biologique de la maladie de la prog\u00e9ria, y compris la recherche du g\u00e8ne. Elle a \u00e9galement lanc\u00e9 une banque de cellules et de tissus, d\u00e9velopp\u00e9 une base de donn\u00e9es clinique et de recherche pour fournir aux m\u00e9decins et aux familles des recommandations m\u00e9dicales, et cr\u00e9\u00e9 un site Web pour rendre l'information accessible \u00e0 toutes les personnes int\u00e9ress\u00e9es.<\/p>\n *Le Programme de tests diagnostiques<\/a> a \u00e9t\u00e9 lanc\u00e9 en juin 2003<\/p>\n Les r\u00e9sultats de la d\u00e9couverte du g\u00e8ne Progeria ont \u00e9t\u00e9 publi\u00e9s dans Nature : Des mutations ponctuelles r\u00e9currentes de novo dans la lamine A provoquent le syndrome de Hutchinson-Gilford progeria<\/em>, Vol. 423, 15 mai 2003.<\/p>\n Contact:<\/strong><\/p>\n Liza Morris [\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>","protected":false},"excerpt":{"rendered":" \t\t\t\t[Boston, MA \u2013 16 avril 2003] \u2013 La Progeria Research Foundation (PRF), en collaboration avec les National Institutes of Health (NIH), a annonc\u00e9 aujourd\u2019hui la d\u00e9couverte du g\u00e8ne responsable du syndrome de Hutchinson-Gilford de la prog\u00e9ria. <\/p>","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"
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202-955-6222 poste 2524
lmorris@spectrumscience.com<\/a><\/p>\nMay Shed Light on Phenomenon of Aging<\/strong><\/h1>\r\nPRF Plays Key Role in Gene Discovery<\/em>\r\n\r\n[Boston, MA - April 16, 2003] - The Progeria Research Foundation (PRF), along with the National Institutes of Health (NIH), today announced the discovery of the gene that causes Hutchinson-Gilford Progeria Syndrome (HGPS or Progeria), a rare, fatal genetic condition characterized by an appearance of accelerated aging in children.\r\n\r\n\"Isolating the Progeria gene is a major achievement for the medical research community,\" said Francis Collins, MD, PhD, director, National Human Genome Research Institute and the senior author on the report, which appears today in Nature. \"The discovery not only gives hope to children and families affected by Progeria, but also may shed light on the phenomenon of aging and cardiovascular disease.\"\r\n\r\nChildren with Progeria die from complications of cardiovascular disease or arteriosclerosis at an average age of 13. Researchers now believe finding the gene that causes Progeria may lead to answers surrounding the natural aging process and cardiovascular disease. Heart disease and stroke are the first and third leading causes of death in the United States, accounting for more than 40 percent of all deaths.\r\n\r\nWithin just one year of beginning the research, a group of leading scientists from the PRF Genetics Consortium were able to isolate the Progeria gene. Key aspects of the finding include the fact that Progeria is not inherited and that mutations to the gene LMNA (Lamin A) cause Progeria. The Lamin A protein is the structural scaffolding that holds the nucleus together and has been studied for years. Researchers now believe that the defective Lamin A protein makes the nucleus unstable. That cellular instability leads to the process of premature aging in Progeria.\r\n\r\nIn March 1999, Scott D. Berns, MD, MPH and Leslie Gordon, MD, PhD together with family, friends and colleagues formed the Progeria Research Foundation after their son Sam was diagnosed with Progeria at 21 months. They discovered a tremendous lack of medical information on Progeria and few research projects being conducted to find the cause, treatment or cure. Gordon, a physician-scientist, gave up her medical career path to devote her life to finding answers about Progeria.\r\n\r\nGordon is now the medical director of PRF. The non-profit organization is dedicated to helping families and children with Progeria through medical research. Gordon's sister, Audrey Gordon, Esq., serves as president and executive director of the foundation. PRF was the driving force behind the discovery of the gene.\r\n\r\n\"Members of PRF recruited all of the geneticists central to finding the gene,\" said Leslie Gordon, who was also a key investigator on the study. \"In addition to the vision and commitment of the researchers, the blood donations from children with Progeria and their parents played an essential part in finding the gene.\"\r\n\r\nIn 2001, PRF began working in partnership with major institutes of the National Institutes of Health (NIH), including the National Institute on Aging and the Office of Rare Diseases, to co-host a joint workshop. PRF and NIH brought together leading scientists from around the world to identify promising areas of research in Progeria. This workshop led to funding for Progeria research and the formation of the PRF Genetics Consortium, a group of twenty scientists whose common goal was to find the genetic cause, treatment and cure for Progeria.\r\n\r\nFurthermore, PRF will soon provide a diagnostic test for the disease where there was no test before.* The finding offers new starting points for researchers and equips them with a significant foundation for future studies that may also help lead to treatment options. Currently, there is no treatment for Progeria.\r\n\r\nAbout one in four to eight million newborns have Progeria and, although they are born looking healthy, they begin to display many characteristics of accelerated aging at around 18-24 months of age. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular disease and stroke.\r\n\r\nThe mission of PRF is to discover the cause, treatment and cure for Progeria through research and education. As the only organization in the world solely dedicated to finding treatments and a cure for Progeria, PRF has developed groundbreaking initiatives that seek to find explanations to the many unanswered questions surrounding this syndrome. PRF has funded basic science research aimed at discovering the biological basis of disease in Progeria, including finding the gene. They also launched a cell and tissue bank, developed a clinical and research database to supply physicians and families with medical recommendations, and created a website to make information accessible to all those interested.\r\n\r\n*The Diagnostic Testing Program<\/a> was launched in June 2003\r\n\r\nThe Progeria gene discovery findings were published in Nature: Recurrent de novo point mutations in Lamin A cause Hutchinson-Gilford Progeria Syndrome<\/em>, Vol. 423, May 15, 2003.\r\n\r\n
\r\n\r\nContact:<\/strong>\r\n\r\nLiza Morris\r\n202-955-6222 x2524\r\nlmorris@spectrumscience.com<\/a>","_et_gb_content_width":"","footnotes":"","_links_to":"","_links_to_target":""},"categories":[2],"tags":[],"class_list":["post-1757","post","type-post","status-publish","format-standard","hentry","category-news"],"yoast_head":"\n