[et_pb_section fb_built=\u201d1\u2033 admin_label=\u201dse\u00e7\u00e3o\u201d _builder_version=\u201d3.22\u2033][et_pb_row admin_label=\u201dlinha\u201d _builder_version=\u201d3.25\u2033 background_size=\u201dinicial\u201d background_position=\u201dtopo_esquerdo\u201d background_repeat=\u201drepetir\u201d][et_pb_column type=\u201d4_4\u2033 _builder_version=\u201d3.25\u2033 custom_padding=\u201d|||\u201d custom_padding__hover=\u201d|||\u201d][et_pb_text admin_label=\u201dTexto\u201d _builder_version=\u201d4.6.5\u2033 background_size=\u201dinicial\u201d background_position=\u201dtop_left\u201d background_repeat=\u201drepetir\u201d hover_enabled=\u201d0\u2033 sticky_enabled=\u201d0\u2033]<\/p>\n
PRF desempenha papel fundamental na descoberta de genes<\/em><\/p>\n [Boston, MA \u2013 16 de abril de 2003] \u2013 A Progeria Research Foundation (PRF), juntamente com os National Institutes of Health (NIH), anunciaram hoje a descoberta do gene que causa a S\u00edndrome de Hutchinson-Gilford Progeria (HGPS ou Progeria), uma condi\u00e7\u00e3o gen\u00e9tica rara e fatal caracterizada pelo aparecimento de envelhecimento acelerado em crian\u00e7as.<\/p>\n \u201cIsolar o gene Progeria \u00e9 uma grande conquista para a comunidade de pesquisa m\u00e9dica\u201d, disse Francis Collins, MD, PhD, diretor do National Human Genome Research Institute e autor s\u00eanior do relat\u00f3rio, que aparece hoje na Nature. \u201cA descoberta n\u00e3o s\u00f3 d\u00e1 esperan\u00e7a para crian\u00e7as e fam\u00edlias afetadas pela Progeria, mas tamb\u00e9m pode lan\u00e7ar luz sobre o fen\u00f4meno do envelhecimento e da doen\u00e7a cardiovascular.\u201d<\/p>\n Crian\u00e7as com Progeria morrem de complica\u00e7\u00f5es de doen\u00e7as cardiovasculares ou arteriosclerose em uma idade m\u00e9dia de 13 anos. Pesquisadores agora acreditam que encontrar o gene que causa a Progeria pode levar a respostas em torno do processo natural de envelhecimento e doen\u00e7as cardiovasculares. Doen\u00e7as card\u00edacas e derrames s\u00e3o a primeira e a terceira principais causas de morte nos Estados Unidos, respondendo por mais de 40 por cento de todas as mortes.<\/p>\n Em apenas um ano do in\u00edcio da pesquisa, um grupo de cientistas l\u00edderes do PRF Genetics Consortium conseguiu isolar o gene Progeria. Os principais aspectos da descoberta incluem o fato de que a Progeria n\u00e3o \u00e9 herdada e que muta\u00e7\u00f5es no gene LMNA (Lamin A) causam a Progeria. A prote\u00edna Lamin A \u00e9 o andaime estrutural que mant\u00e9m o n\u00facleo unido e tem sido estudada h\u00e1 anos. Os pesquisadores agora acreditam que a prote\u00edna Lamin A defeituosa torna o n\u00facleo inst\u00e1vel. Essa instabilidade celular leva ao processo de envelhecimento prematuro na Progeria.<\/p>\n Em mar\u00e7o de 1999, Scott D. Berns, MD, MPH e Leslie Gordon, MD, PhD, juntamente com familiares, amigos e colegas formaram a Progeria Research Foundation depois que seu filho Sam foi diagnosticado com Progeria aos 21 meses. Eles descobriram uma tremenda falta de informa\u00e7\u00f5es m\u00e9dicas sobre Progeria e poucos projetos de pesquisa sendo conduzidos para encontrar a causa, tratamento ou cura. Gordon, uma m\u00e9dica-cientista, desistiu de sua carreira m\u00e9dica para dedicar sua vida a encontrar respostas sobre Progeria.<\/p>\n Gordon \u00e9 agora o diretor m\u00e9dico da PRF. A organiza\u00e7\u00e3o sem fins lucrativos \u00e9 dedicada a ajudar fam\u00edlias e crian\u00e7as com Progeria por meio de pesquisas m\u00e9dicas. A irm\u00e3 de Gordon, Audrey Gordon, Esq., atua como presidente e diretora executiva da funda\u00e7\u00e3o. A PRF foi a for\u00e7a motriz por tr\u00e1s da descoberta do gene.<\/p>\n \u201cOs membros da PRF recrutaram todos os geneticistas essenciais para encontrar o gene\u201d, disse Leslie Gordon, que tamb\u00e9m foi uma investigadora-chave no estudo. \u201cAl\u00e9m da vis\u00e3o e do comprometimento dos pesquisadores, as doa\u00e7\u00f5es de sangue de crian\u00e7as com Progeria e seus pais desempenharam um papel essencial na descoberta do gene.\u201d<\/p>\n Em 2001, a PRF come\u00e7ou a trabalhar em parceria com os principais institutos do National Institutes of Health (NIH), incluindo o National Institute on Aging e o Office of Rare Diseases, para co-hospedar um workshop conjunto. A PRF e o NIH reuniram cientistas l\u00edderes de todo o mundo para identificar \u00e1reas promissoras de pesquisa em Progeria. Este workshop levou ao financiamento para a pesquisa de Progeria e \u00e0 forma\u00e7\u00e3o do PRF Genetics Consortium, um grupo de vinte cientistas cujo objetivo comum era encontrar a causa gen\u00e9tica, o tratamento e a cura para a Progeria.<\/p>\n Al\u00e9m disso, a PRF em breve fornecer\u00e1 um teste de diagn\u00f3stico para a doen\u00e7a onde n\u00e3o havia teste antes.* A descoberta oferece novos pontos de partida para pesquisadores e os equipa com uma base significativa para estudos futuros que tamb\u00e9m podem ajudar a levar a op\u00e7\u00f5es de tratamento. Atualmente, n\u00e3o h\u00e1 tratamento para Progeria.<\/p>\n Cerca de um em cada quatro a oito milh\u00f5es de rec\u00e9m-nascidos tem Progeria e, embora nas\u00e7am parecendo saud\u00e1veis, come\u00e7am a exibir muitas caracter\u00edsticas de envelhecimento acelerado por volta dos 18-24 meses de idade. Os sinais de Progeria incluem falha de crescimento, perda de gordura corporal e cabelo, pele com apar\u00eancia envelhecida, rigidez das articula\u00e7\u00f5es, luxa\u00e7\u00e3o do quadril, aterosclerose generalizada, doen\u00e7a cardiovascular e derrame.<\/p>\n A miss\u00e3o da PRF \u00e9 descobrir a causa, o tratamento e a cura da Progeria por meio de pesquisa e educa\u00e7\u00e3o. Como a \u00fanica organiza\u00e7\u00e3o no mundo dedicada exclusivamente a encontrar tratamentos e uma cura para a Progeria, a PRF desenvolveu iniciativas inovadoras que buscam encontrar explica\u00e7\u00f5es para as muitas perguntas sem resposta que cercam essa s\u00edndrome. A PRF financiou pesquisas cient\u00edficas b\u00e1sicas com o objetivo de descobrir a base biol\u00f3gica da doen\u00e7a na Progeria, incluindo a descoberta do gene. Eles tamb\u00e9m lan\u00e7aram um banco de c\u00e9lulas e tecidos, desenvolveram um banco de dados cl\u00ednico e de pesquisa para fornecer recomenda\u00e7\u00f5es m\u00e9dicas a m\u00e9dicos e fam\u00edlias e criaram um site para tornar as informa\u00e7\u00f5es acess\u00edveis a todos os interessados.<\/p>\n *O Programa de Testes de Diagn\u00f3stico<\/a> foi lan\u00e7ado em junho de 2003<\/p>\n As descobertas do gene Progeria foram publicadas em Natureza: Muta\u00e7\u00f5es pontuais recorrentes de novo na l\u00e2mina A causam a s\u00edndrome de Hutchinson-Gilford Progeria<\/em>, Vol. 423, 15 de maio de 2003.<\/p>\n Contato:<\/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 de abril de 2003] \u2013 A Progeria Research Foundation (PRF), juntamente com os National Institutes of Health (NIH), anunciaram hoje a descoberta do gene que causa a S\u00edndrome de Progeria de Hutchinson-Gilford <\/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":"
\n
202-955-6222 ramal 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