\ud5c8\uce5c\uc2a8-\uae38\ud3ec\ub4dc \uc870\ub85c\uc99d \uc99d\ud6c4\uad70.<\/a>\u00a0 Gordon LB, Brown WT, Collins FS. In: Pagon RA, Bird TD, Dolan CR, Stephens K, \ud3b8\uc9d1\uc790. GeneReviews [\uc778\ud130\ub137]. \uc2dc\uc560\ud2c0(WA): University of Washington, Seattle; 1993-. \uc870\uae30 \ub178\ud654 \uc99d\ud6c4\uad70 \ud5c8\uce5c\uc2a8-\uae38\ud3ec\ub4dc \ud504\ub85c\uac8c\ub9ac\uc544: \uc815\uc0c1 \ub178\ud654\uc5d0 \ub300\ud55c \ud1b5\ucc30\ub825. \uace0\ub4e0, \ub808\uc2ac\ub9ac. 7\ud310\uc758 \uc7a5\u00a0\ube0c\ub85d\ud074\ud5c8\uc2a4\ud2b8\uc758 \ub178\ub144\uc758\ud559\uacfc \ub178\ub144\ud559 \uad50\uacfc\uc11c<\/em>. \uc800\uc791\uad8c: 2010.<\/p>\n \ud55c\uad6d\uc5b4:<\/em>\u00a0\uadf8\ub9ac\uace0 Hutchinson-Gilford Progeria \uc99d\ud6c4\uad70 \ubc0f \uad00\ub828 Laminopathies. Gordon LB, Brown WT, Rothman FG. CJ Epstein, RP Erickson, A. Wynshaw-Boris(\ud3b8\uc9d1\uc790)\u00a0\uc120\ucc9c\uc801 \ubc1c\ub2ec \uc624\ub958: \ud615\ud0dc\ubc1c\uc0dd\uc758 \uc784\uc0c1\uc801 \uc7a5\uc560\uc758 \ubd84\uc790\uc801 \uae30\ucd08<\/em>\u00a0(2~\uc774\ub2e4<\/sup>\u00a0\ud3b8\uc9d1). \ub274\uc695, \ub274\uc695: \uc625\uc2a4\ud3ec\ub4dc \ub300\ud559 \ucd9c\ud310\ubd80. 2008 139: 1219-1229.<\/p>\n<\/div>\n<\/div>\n [\/et_pb_text][\/et_pb_column_inner][\/et_pb_row_inner][\/et_pb_column][\/et_pb_section][et_pb_section fb_built="1" module_class="footer" _builder_version="4.21.0" background_color="#29327a" custom_margin="-2px|||||" custom_padding="0|0px|0|0px|false|false" z_index_tablet="500" border_width_top="12px" border_color_top="#00b2e2" global_module="133" locked="off" global_colors_info="{}"][et_pb_row column_structure="1_4,1_4,1_2" make_equal="on" module_class=" et_pb_row_fullwidth" _builder_version="4.16" width="89%" width_tablet="80%" width_phone="" width_last_edited="on|desktop" max_width="89%" max_width_tablet="80%" 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module_class_1="sidebar-secondary-nav" module_class="handprint-bg" _builder_version="4.16" background_image="https:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/blue-handprint-only.png" parallax="on" parallax_method="off" inner_width="100%" inner_max_width="100%" \uc0ac\uc6a9\uc790 \uc815\uc758 \ud328\ub529="0|0px|54px|0px|false|false" z_index_tablet="500" border_width_top="10px" border_color_top="#8fd2ed" use_custom_width="on" width_unit="off" \uc0ac\uc6a9\uc790 \uc815\uc758 \ub108\ube44 \ud37c\uc13c\ud2b8="100%" [\u2026]<\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"\t\t\t\t[vc_row][vc_column][vc_custom_heading text=\"Medical Database\" font_container=\"tag:h1|text_align:center\" use_theme_fonts=\"yes\"][vc_column_text]What is the International Medical and Research Database?<\/strong>\r\n\r\nWe collect the medical records for children with Progeria from all over the world. Then we look at every aspect of medical care that has been given to the children. We perform statistical analyses, and look at what treatments have worked for maintaining quality of life and what treatments have not worked. Most doctors have only seen one child with Progeria, and they are not sure what to do when the child needs things like heart medications, anesthesia, and proper physical therapy. We have the ability to give advice to the doctors and their families based on this database program.\r\n\r\nThe Progeria Research Foundation is collaborating with Brown University Center for Gerontology and Health Care Research for this wonderful project. The Brown Center has many years of experience with creating and analyzing healthcare databases.\r\n\r\nWe also use the medical records to understand more about the basis of disease in Progeria, which serves as a springboard for new research in Progeria and in the diseases of aging such as heart disease. This may lead to clues for new treatments for the children and for all of us!\r\n\r\nThere has never been a centralized childhood Progeria database from which to draw health care information. This has led to unintentional clinical maltreatment of patients, misdiagnoses and delayed diagnoses, simply because caretakers do not know which medical strategies have been successful with other Progeria children and which have not. The goal of this project is to collect the health care records for children with Progeria and develop a centralized health database for use by health care professionals, medical researchers, and families of children with Progeria.\r\n\r\nAims of the Database<\/strong>\r\n Neurologic<\/b>\u00a0features<\/b>\u00a0of\u00a0Hutchinson-Gilford<\/b>\u00a0progeria syndrome after lonafarnib treatment.\r\n<\/a>Ullrich NJ, Kieran MW, Miller DT, Gordon LB, Cho YJ, Silvera VM, Giobbie-Hurder A, Neuberg D, Kleinman ME. Neurology<\/i>. 2013 Jul 30;81(5):427-30. doi: 10.1212\/WNL.0b013e31829d85c0. Epub 2013 Jun 28.<\/p>\r\n Imaging<\/b>\u00a0characteristics<\/b>\u00a0of\u00a0cerebrovascular<\/b>\u00a0arteriopathy<\/b>\u00a0and\u00a0stroke<\/b>\u00a0in Hutchinson-Gilford progeria syndrome.<\/a> Silvera VM, Gordon LB, Orbach DB, Campbell SE, Machan JT, Ullrich NJ.\r\nAJNR Am J Neuroradiol<\/i>. 2013 May;34(5):1091-7. doi: 10.3174\/ajnr.A3341. Epub 2012 Nov 22.<\/p>\r\n Craniofacial abnormalities<\/b>\u00a0in\u00a0Hutchinson<\/b>-Gilford progeria syndrome.\r\n<\/a>Ullrich NJ, Silvera VM, Campbell SE, Gordon LB. AJNR Am J Neuroradiol<\/i>. 2012 Sep;33(8):1512-8. doi: 10.3174\/ajnr.A3088. Epub 2012 Mar 29.<\/p>\r\n Clinical trial<\/b>\u00a0of a\u00a0farnesyltransferase<\/b>\u00a0inhibitor<\/b>\u00a0in\u00a0children<\/b>\u00a0with\u00a0Hutchinson<\/b>-Gilford progeria syndrome.<\/a> Gordon LB, Kleinman ME, Miller DT, Neuberg DS, Giobbie-Hurder A, Gerhard-Herman M, Smoot LB, Gordon CM, Cleveland R, Snyder BD, Fligor B, Bishop WR, Statkevich P, Regen A, Sonis A, Riley S, Ploski C, Correia A, Quinn N, Ullrich NJ, Nazarian A, Liang MG, Huh SY, Schwartzman A, Kieran MW. Proc Natl Acad Sci U S A<\/i>. 2012 Oct 9;109(41):16666-71. doi: 10.1073\/pnas.1202529109. Epub 2012 Sep 24<\/p>\r\n Mechanisms<\/b>\u00a0of\u00a0premature<\/b>\u00a0vascular<\/b>\u00a0aging<\/b>\u00a0in\u00a0children<\/b>\u00a0with\u00a0Hutchinson<\/b>-Gilford progeria syndrome.<\/a> Gerhard-Herman M, Smoot LB, Wake N, Kieran MW, Kleinman ME, Miller DT, Schwartzman A, Giobbie-Hurder A, Neuberg D, Gordon LB. Hypertension<\/i>. 2012 Jan;59(1):92-7. doi: 10.1161\/HYPERTENSIONAHA.111.180919. Epub 2011 Nov 14.<\/p>\r\n A\u00a0prospective study\u00a0of\u00a0radiographic\u00a0manifestations\u00a0in Hutchinson-Gilford progeria syndrome.<\/strong>\r\n<\/a>Cleveland RH, Gordon LB, Kleinman ME, Miller DT, Gordon CM, Snyder BD, Nazarian A, Giobbie-Hurder A, Neuberg D, Kieran MW. Pediatr Radiol<\/i>. 2012 Sep;42(9):1089-98. doi: 10.1007\/s00247-012-2423-1. Epub 2012 Jul 1.<\/p>\r\n Low<\/b>\u00a0and\u00a0high<\/b>\u00a0expressing<\/b>\u00a0alleles<\/b>\u00a0of the LMNA gene: implications for laminopathy disease development.<\/a> Rodr\u00edguez S, Eriksson M. PLoS One<\/i>. 2011;6(9):e25472. doi: 10.1371\/journal.pone.0025472. Epub 2011 Sep 29.\r\n\r\nHutchinson-Gilford<\/b>\u00a0progeria<\/b>\u00a0is a\u00a0skeletal<\/b>\u00a0dysplasia.<\/a> Gordon CM, Gordon LB, Snyder BD, Nazarian A, Quinn N, Huh S, Giobbie-Hurder A, Neuberg D, Cleveland R, Kleinman M, Miller DT, Kieran MW. J Bone Miner Res<\/i>. 2011 Jul;26(7):1670-9. doi: 10.1002\/jbmr.392.<\/p>\r\n Cardiovascular pathology<\/b>\u00a0in\u00a0Hutchinson<\/b>-Gilford progeria: correlation with the vascularpathology<\/b>\u00a0of aging.<\/a> Olive M, Harten I, Mitchell R, Beers JK, Djabali K, Cao K, Erdos MR, Blair C, Funke B, Smoot L, Gerhard-Herman M, Machan JT, Kutys R, Virmani R, Collins FS, Wight TN, Nabel EG, Gordon LB. Arterioscler Thromb Vasc Biol<\/i>. 2010 Nov;30(11):2301-9. doi: 10.1161\/ATVBAHA.110.209460. Epub 2010 Aug 26.<\/p>\r\n Hutchinson-Gilford<\/b>\u00a0progeria<\/b>\u00a0syndrome<\/b>:\u00a0oral<\/b>\u00a0and craniofacial phenotypes.<\/a> Domingo DL, Trujillo MI, Council SE, Merideth MA, Gordon LB, Wu T, Introne WJ, Gahl WA, Hart TC. Oral<\/i>\u00a0<\/i>Dis<\/i>. 2009 Apr;15(3):187-95. doi: 10.1111\/j.1601-0825.2009.01521.x. Epub 2009 Feb 19.<\/p>\r\n Targeted<\/b>\u00a0transgenic<\/b>\u00a0expression<\/b>\u00a0of the\u00a0mutation<\/b>\u00a0causing<\/b>\u00a0Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease.<\/a> Sagelius H, Rosengardten Y, Hanif M, Erdos MR, Rozell B, Collins FS, Eriksson M. J Cell Sci<\/i>. 2008 Apr 1;121(Pt 7):969-78. doi: 10.1242\/jcs.022913. Epub 2008 Mar 11.<\/p>\r\n Reversible<\/b>\u00a0phenotype<\/b>\u00a0in a\u00a0mouse<\/b>\u00a0model of Hutchinson-Gilford progeria syndrome.\r\n<\/a>Sagelius H, Rosengardten Y, Schmidt E, Sonnabend C, Rozell B, Eriksson M. J Med Genet<\/i>. 2008 Dec;45(12):794-801. doi: 10.1136\/jmg.2008.060772. Epub 2008 Aug 15.<\/p>\r\n Phenotype<\/b>\u00a0and\u00a0course<\/b>\u00a0of\u00a0Hutchinson<\/b>-Gilford progeria syndrome.<\/a> Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO 3rd, Gahl WA, Introne WJ. N Engl J Med<\/i>. 2008 Feb 7;358(6):592-604. doi: 10.1056\/NEJMoa0706898.<\/p>\r\n New<\/b>\u00a0approaches<\/b>\u00a0to\u00a0progeria<\/b>.<\/a> Kieran MW, Gordon L, Kleinman M. Pediatrics. 2007 Oct;120(4):834-41. Review. Erratum in: Pediatrics<\/i>. 2007 Dec;120(6):1405.<\/p>\r\n Disease progression<\/b>\u00a0in\u00a0Hutchinson-Gilford<\/b>\u00a0progeria syndrome: impact on growth and development.<\/a> Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD, Kieran MW. Pediatrics<\/i>. 2007 Oct;120(4):824-33.<\/p>\r\n Reduced<\/b>\u00a0adiponectin<\/b>\u00a0and\u00a0HDL cholesterol<\/b>\u00a0without\u00a0elevated<\/b>\u00a0C-reactive protein<\/b>: clues to the biology of premature atherosclerosis in Hutchinson-Gilford Progeria Syndrome.<\/a> Gordon LB, Harten IA, Patti ME, Lichtenstein AH. J Pediatr<\/i>. 2005 Mar;146(3):336-41.<\/p>\r\n Inhibiting<\/b>\u00a0farnesylation<\/b>\u00a0of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford\u00a0progeria<\/b>\u00a0syndrome.<\/a> Capell BC, Erdos MR, Madigan JP, Fiordalisi JJ, Varga R, Conneely KN, Gordon LB, Der CJ, Cox AD, Collins FS. Proc Natl Acad Sci U S A<\/i>. 2005 Sep 6;102(36):12879-84. Epub 2005 Aug 29<\/p>\r\n Accumulation<\/b>\u00a0of\u00a0mutant<\/b>\u00a0lamin A<\/b>\u00a0causes<\/b>\u00a0progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome.<\/a> Goldman RD, Shumaker DK, Erdos MR, Eriksson M, Goldman AE, Gordon LB, Gruenbaum Y, Khuon S, Mendez M, Varga R, Collins FS. Proc Natl Acad Sci U S A<\/i>. 2004 Jun 15;101(24):8963-8. Epub 2004 Jun 7.<\/p>\r\nBooks and Documents<\/strong>\r\n\r\nHutchinson-Gilford Progeria Syndrome.<\/a>\u00a0 Gordon LB, Brown WT, Collins FS. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.\r\n2003 Dec 12 [updated 2011 Jan 06].\r\n\r\nThe Premature Aging Syndrome Hutchinson-Gilford Progeria: Insights Into Normal Aging. Gordon, Leslie. Chapter in the 7th edition of Brocklehurst\u2019s Textbook of Geriatric Medicine and Gerontology<\/em>. Copyright: 2010.\r\n\r\nLMNA<\/em> and the Hutchinson-Gilford Progeria Syndrome and Associated Laminopathies. Gordon LB, Brown WT, Rothman FG. \u00a0In C. J. Epstein, R. P. Erickson, A. Wynshaw-Boris (Eds.) Inborn Errors of Development: The molecular basis of clinical disorders of morphogenesis<\/em> (2nd<\/sup> ed.). New York, NY: Oxford University Press. 2008 139: 1219-1229.[\/vc_column_text][vc_column_text]Sam passed away on January 10, 2014, leaving a legacy of inspiration that now drives PRF and its supporters to continue the quest for a cure, with more determination than ever. Click here<\/a> to learn more about this remarkable young man.[\/vc_column_text][vc_column_text]Together with caring, dedicated board members and other generous volunteers, The Progeria Research Foundation was created to raise awareness, educate and help the families, their doctors, researchers and the general public about Hutchinson-Gilford Progeria Syndrome. In addition, PRF funds medical research and runs research-related programs specifically aimed at finding the cause*, treatments, and cure for this syndrome.[\/vc_column_text][vc_column_text]Since its inception, PRF has benefited from the leadership of Attorney Audrey Gordon, Sam's aunt, who serves as the organization's President and Executive Director.[\/vc_column_text][vc_column_text]Did you know?<\/strong>\r\n\r\nWith the exception of our staff, everyone involved with PRF is a volunteer! Our Board of Directors, Clerk, Treasurer, committee members, translators, fund-raisers, etc. all devote their time, energy and talents to furthering our mission without pay. As a result, our administrative costs are very low. This leaves more money to devote to medical research and raising public awareness, which ultimately lead to finding a cure for Progeria.[\/vc_column_text][vc_column_text css=\".vc_custom_1508790933490{background-color: #ffffff !important;}\"]\r\n Leslie B. Gordon, MD, PhD, is PRF's Medical Director. She is also the Principal Investigator of PRF's research-related programs: The PRF International Registry, Cell & Tissue Bank, Medical & Research Database, and Diagnostics Testing Program, and co-author on the historic Progeria gene finding and treatment discovery*.<\/p>\r\n[\/vc_column_text][vc_column_text css=\".vc_custom_1488054553154{background-color: #ffffff !important;}\"]\r\n * Thanks to PRF's efforts, in April 2003 PRF and the National Institutes of Health announced that the cause of Progeria, a mutation in the LMNA gene, was found<\/a>, and in September 2012, the first-ever treatment was discovered.<\/a><\/p>\r\n[\/vc_column_text][vc_column_text css=\".vc_custom_1488054565202{background-color: #ffffff !important;}\"]There is much work to be done and little resources with which to do so. We cannot do it alone. With your support, the cure will be discovered for these wonderful children.[\/vc_column_text][vc_column_text css=\".vc_custom_1488054579010{background-color: #ffffff !important;}\"]Together, we WILL<\/em> find the cure.[\/vc_column_text][\/vc_column][\/vc_row]\t\t","_et_gb_content_width":"","footnotes":"","_links_to":"","_links_to_target":""},"class_list":["post-788","page","type-page","status-publish","hentry"],"yoast_head":"\n
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Click here\u00a0<\/a>\u00a0to download the second edition of the Handbook in English.\r\n\r\nThe first edition of the handbook is available in Spanish and Portuguese versions. Translations of the second edition of the handbook in Spanish and Portuguese will be posted when available.\r\n\r\n<\/a>\u00a0Click here<\/a> to download the Handbook in Spanish.\r\n\r\n<\/a>\u00a0Click here<\/a> to download the Handbook in Portuguese.\r\n\r\nJournal Articles<\/strong>\r\n\r\nOphthalmologic\u00a0Features\u00a0of\u00a0Progeria.\r\n<\/a><\/strong>Mantagos IS, Kleinman ME, Kieran MW, Gordon LB.\r\nAm J Ophthalmol. 2017 Jul 27. pii: S0002-9394(17)30317-3. doi: 10.1016\/j.ajo.2017.07.020. [Epub ahead of print]\r\n\r\nA\u00a0novel\u00a0somatic\u00a0mutation\u00a0achieves\u00a0partial rescue in a child with Hutchinson-Gilford progeria syndrome.<\/strong>\r\n<\/a>Bar DZ, Arlt MF, Brazier JF, Norris WE, Campbell SE, Chines P, Larrieu D, Jackson SP, Collins FS, Glover TW, Gordon LB.\r\nJ Med Genet. 2017 Mar;54(3):212-216. doi: 10.1136\/jmedgenet-2016-104295. Epub 2016 Dec 5.\r\n\r\nCardiac\u00a0electrical\u00a0defects\u00a0in\u00a0progeroid\u00a0mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations.<\/strong>\r\n<\/a>Rivera-Torres J, Calvo CJ, Llach A, Guzm\u00e1n-Mart\u00ednez G, Caballero R, Gonz\u00e1lez-G\u00f3mez C, Jim\u00e9nez-Borreguero LJ, Guadix JA, Osorio FG, L\u00f3pez-Ot\u00edn C, Herraiz-Mart\u00ednez A, Cabello N, Vallmitjana A, Ben\u00edtez R, Gordon LB, Jalife J, P\u00e9rez-Pomares JM, Tamargo J, Delp\u00f3n E, Hove-Madsen L, Filgueiras-Rama D, Andr\u00e9s V.\r\nProc Natl Acad Sci U S A. 2016 Nov 15;113(46):E7250-E7259. Epub 2016 Oct 31.\r\n\r\nClinical Trial\u00a0of the\u00a0Protein Farnesylation\u00a0Inhibitors\u00a0Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome.<\/strong>\r\n<\/a>Gordon LB, Kleinman ME, Massaro J, D'Agostino RB Sr, Shappell H, Gerhard-Herman M, Smoot LB, Gordon CM, Cleveland RH, Nazarian A, Snyder BD, Ullrich NJ, Silvera VM, Liang MG, Quinn N, Miller DT, Huh SY, Dowton AA, Littlefield K, Greer MM, Kieran MW.\r\nCirculation. 2016 Jul 12;134(2):114-25. doi: 10.1161\/CIRCULATIONAHA.116.022188.\r\n\r\nHutchinson-Gilford progeria syndrome.<\/strong>\r\n<\/a>Ullrich NJ, Gordon LB.\r\nHandb Clin Neurol. 2015;132:249-64.\r\n\r\nImpact\u00a0of\u00a0farnesylation\u00a0inhibitors\u00a0on\u00a0survival\u00a0in hutchinson-gilford progeria syndrome.<\/strong>\r\n<\/a>Gordon LB, Massaro J, D'Agostino RB Sr, Campbell SE, Brazier J, Brown WT, Kleinman ME, Kieran MW; Progeria Clinical Trials Collaborative.\r\nCirculation. 2014 Jul 1;130(1):27-34. doi: 10.1161\/CIRCULATIONAHA.113.008285. Epub 2014 May 2.\r\n\r\nInitial\u00a0Cutaneous\u00a0Manifestations of Hutchinson-Gilford Progeria Syndrome.<\/a>\u00a0<\/strong>Rork JF, Huang JT, Gordon LB, Kleinman M, Kieran MW, Liang MG. Pediatr Dermatol. 2014 Jan 24: 1-7. doi: 10.1111\/pde.12284.\r\n