{"id":455,"date":"2022-02-09T13:56:06","date_gmt":"2022-02-09T12:56:06","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=455"},"modified":"2024-11-12T13:43:02","modified_gmt":"2024-11-12T12:43:02","slug":"ern-ithaca-warzawa-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/es\/about-us\/expert-centers\/ern-ithaca-warzawa-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centro de Varsovia"},"content":{"rendered":"
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El Instituto de Salud Infantil Memorial<\/strong>
Departamento de Gen\u00e9tica M\u00e9dica
Aleja Dzieci Polskich, 20
04-730 Varsovia
POLONIA<\/p>\n\n\n\n

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P\u00e1gina web<\/a><\/div>\n<\/div>\n\n\n\n
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Plomo<\/h2>\n\n\n\n
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Prof. Dra. Krystyna Chrzanowska<\/strong><\/p>\n\n\n\n

Tel\u00e9fono<\/strong>: +48 22 815 74 52<\/p>\n\n\n\n

Fax<\/strong>: +48 22 815 74 57<\/p>\n\n\n\n

Correo electr\u00f3nico:<\/strong> genetyka@ipczd.pl <\/p>\n<\/div>\n<\/div>\n\n\n\n

<\/div>\n\n\n\n

Equipo<\/h2>\n\n\n\n

Dra. Agnieszka Madej-Pilarczyk: especialista en gen\u00e9tica cl\u00ednica y medicina interna
Dra. Dorota Wicher: genetista cl\u00ednica y pediatra
Dra. El\u017cbieta Ciara \u2013 gen\u00e9tica molecular
Dra. Marlena M\u0142ynek \u2013 citogen\u00e9tica<\/p>\n\n\n\n

<\/div>\n\n\n\n

\u00c1mbito de aplicaci\u00f3n<\/h2>\n\n\n\n

El \u00e1mbito de especializaci\u00f3n de nuestro centro, el Children\u2019s Memorial Health Institute, como miembro de la Red de Referencia Europea (ERN) ITHACA, abarca todos los s\u00edndromes que presentan anomal\u00edas del desarrollo y\/o discapacidad intelectual (DI). Aproximadamente 1 de cada 40 reci\u00e9n nacidos presenta una malformaci\u00f3n cong\u00e9nita (261 de cada 10 000 fetos y reci\u00e9n nacidos seg\u00fan los informes de EuroCAT), y 1 de cada 40 presenta DI. Por lo tanto, entre 3 y 5 % de todos los nacimientos humanos presentan o desarrollar\u00e1n una anomal\u00eda del desarrollo, de las cuales al menos entre 25 y 50 % son de origen gen\u00e9tico o gen\u00f3mico. Esta enorme poblaci\u00f3n representa, en realidad, la yuxtaposici\u00f3n de un n\u00famero muy elevado de trastornos que, considerados individualmente, son raros y que presentan una diversidad extrema de causas y fenotipos. La competencia y el \u00e1mbito de especializaci\u00f3n del Children\u2019s Memorial Health Institute incluyen:<\/p>\n\n\n\n

  • m\u00e1s de 5.500 s\u00edndromes dism\u00f3rficos y de anomal\u00edas cong\u00e9nitas m\u00faltiples (MCA) (recogidos en la Base de Datos de Dismorfolog\u00eda de Londres), entre los que se incluyen m\u00e1s de 3.000 enfermedades monog\u00e9nicas, todas las anomal\u00edas cromos\u00f3micas (la mayor\u00eda de ellas solo detectables mediante tecnolog\u00edas de microarrays), anomal\u00edas dism\u00f3rficas multifactoriales y espor\u00e1dicas, y embriopat\u00edas de origen ambiental<\/li>
  • >1.500 formas monog\u00e9nicas y cientos de formas cromos\u00f3micas de discapacidad intelectual, con o sin trastorno del espectro autista (TEA) asociado.<\/li><\/ul>\n\n\n\n
    <\/div>\n\n\n\n

    Atenci\u00f3n a los pacientes<\/h2>\n\n\n\n

    El Departamento de Gen\u00e9tica M\u00e9dica (DMG) del CMHI se dedica tanto al diagn\u00f3stico de una amplia gama de enfermedades y s\u00edndromes gen\u00e9ticos raros \u2014con el fin de ofrecer un asesoramiento gen\u00e9tico completo a las familias en riesgo\u2014 como a la investigaci\u00f3n traslacional destinada a desentra\u00f1ar los mecanismos moleculares fisiol\u00f3gicos y an\u00f3malos que dan lugar a una enfermedad, con el objetivo \u00faltimo de mejorar la atenci\u00f3n al paciente. Revisten especial inter\u00e9s los s\u00edndromes dism\u00f3rficos, con o sin discapacidad intelectual, los errores cong\u00e9nitos del metabolismo, los trastornos mitocondriales, los trastornos de impronta y los s\u00edndromes de inestabilidad cromos\u00f3mica.<\/p>\n\n\n\n

    El DMG est\u00e1 compuesto por la Cl\u00ednica Gen\u00e9tica Ambulatoria (GOC), el Laboratorio de Citogen\u00e9tica y Cultivo de Tejidos y el Laboratorio de Gen\u00e9tica Molecular. Nuestro equipo est\u00e1 formado por 10 m\u00e9dicos especializados en gen\u00e9tica cl\u00ednica y en pediatr\u00eda, medicina interna, audiolog\u00eda y endocrinolog\u00eda, as\u00ed como por 27 t\u00e9cnicos de laboratorio con experiencia en citogen\u00e9tica, gen\u00e9tica molecular y bioinform\u00e1tica. Los pacientes derivados a la GOC proceden de la regi\u00f3n de Mazovia (~67%) y del resto del pa\u00eds (~33%). Entre los pacientes atendidos (m\u00e1s de 6 000 al a\u00f1o), dos tercios son ni\u00f1os y un tercio, adultos. En el periodo 1980-2022 se llevaron a cabo m\u00e1s de 110 proyectos de investigaci\u00f3n y se publicaron m\u00e1s de 285 art\u00edculos revisados por pares (IF = 1 293). El DMG ha participado en varias redes dedicadas a las enfermedades raras, entre las que se incluyen: Orphanet Europe, el Programa Conjunto Europeo para las Enfermedades Raras, Dyscerne y RD Action.<\/p>\n\n\n\n

    Nuestros laboratorios cuentan con la certificaci\u00f3n peri\u00f3dica de la EMQN y de la Sociedad Polaca de Gen\u00e9tica Humana, y ofrecen una especializaci\u00f3n espec\u00edfica en el diagn\u00f3stico de malformaciones cong\u00e9nitas raras, discapacidad intelectual no diagnosticada y poco frecuente, trastornos de impronta gen\u00e9tica, as\u00ed como enfermedades mitocondriales y metab\u00f3licas. El equipo de genetistas cl\u00ednicos (GOC) proporciona una atenci\u00f3n integral a los pacientes, que incluye consultas ampliadas con un equipo multidisciplinar a domicilio (por ejemplo, neur\u00f3logo, cardi\u00f3logo, endocrin\u00f3logo, nefr\u00f3logo, radi\u00f3logo, psic\u00f3logo, psiquiatra infantil, antrop\u00f3logo y dietista), as\u00ed como asesoramiento gen\u00e9tico para las familias. El DMG ofrece servicios de diagn\u00f3stico para pacientes pedi\u00e1tricos y adultos, tanto dentro como fuera del CMHI, utilizando diversas t\u00e9cnicas gen\u00e9ticas: citogen\u00e9ticas, cl\u00e1sicas y moleculares (MLPA, aCGH\/SNP), secuenciaci\u00f3n del ADN (incluidas las t\u00e9cnicas de Sanger y NGS, es decir, paneles de diagn\u00f3stico dirigidos, WES y WGS) y an\u00e1lisis de metilaci\u00f3n (MS-MLPA, SNuPE).<\/p>\n\n\n\n

    <\/div>\n\n\n\n

    Organizaci\u00f3n del centro<\/h2>\n\n\n\n

    El Children\u2019s Memorial Health Institute (CMHI) es un instituto de investigaci\u00f3n y, al mismo tiempo, uno de los hospitales pedi\u00e1tricos especializados m\u00e1s grandes de Polonia, dedicado al avance de la pediatr\u00eda moderna. Atiende a pacientes de todo el pa\u00eds, as\u00ed como del extranjero, que necesitan un diagn\u00f3stico y un tratamiento complejos y de alto nivel. Nuestro personal aplica en su trabajo diario los \u00faltimos avances cient\u00edficos en el campo de la pediatr\u00eda, teniendo siempre en cuenta las necesidades de los pacientes y sus familias. Cubrimos la mayor\u00eda de las enfermedades raras pedi\u00e1tricas y colaboramos estrechamente con otros centros especializados en enfermedades raras de Europa, tanto a nivel cl\u00ednico como de investigaci\u00f3n. El objetivo del Instituto es llevar a cabo actividades de investigaci\u00f3n y desarrollo, prestar servicios m\u00e9dicos centrados en las necesidades sanitarias de los ni\u00f1os, adolescentes y adultos j\u00f3venes, as\u00ed como desempe\u00f1ar tareas docentes, adaptando los resultados de la investigaci\u00f3n y el desarrollo a las necesidades de la pr\u00e1ctica y aplicando dichos resultados. El Children\u2019s Memorial Health Institute ha obtenido la categor\u00eda A, la m\u00e1s alta, en la evaluaci\u00f3n param\u00e9trica integral de la calidad de la investigaci\u00f3n cient\u00edfica. Nuestro hospital se somete cada a\u00f1o a una auditor\u00eda de los procedimientos operativos est\u00e1ndar, y los procedimientos m\u00e9dicos se revisan en el marco del Centro Nacional de Control de Calidad en Medicina. Hay ocho departamentos pedi\u00e1tricos que forman parte de las Redes Europeas de Referencia (ERN): ITHACA, EpiCare, ERKNet, PeadCan-ERN, RITA, TRANSCHILD, RARE-LIVER y MetabERN.<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[66],"center-status":[15],"class_list":["post-455","expert-centers","type-expert-centers","status-publish","hentry","country-poland","center-status-full-member"],"acf":{"name-city":"Warszawa Center","representative":"Pr Dr Krystyna Chrzanowska","latitude":"52.229676 ","longitude":"21.012229","keywords-search":""},"yoast_head":"\nERN-ITHACA \u2013 Warsaw Center - ERN ITHACA<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ern-ithaca.eu\/es\/about-us\/expert-centers\/ern-ithaca-warzawa-center\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA \u2013 Warsaw Center - 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