Enfermedades raras

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itemprop="item" href="/va/"><span itemprop="name">Inici</span></a><meta itemprop="position" content="1"></li><li itemprop="itemListElement" itemscope itemtype="http://schema.org/ListItem"><a itemscope itemtype="http://schema.org/Thing" itemprop="item" href="/va/salut-publica"><span itemprop="name">Salut p煤blica</span></a><meta itemprop="position" content="2"></li><li itemprop="itemListElement" itemscope itemtype="http://schema.org/ListItem"><a itemscope itemtype="http://schema.org/Thing" itemprop="item" href="/va/salut-publica/malalties-minoritaries/"><span itemprop="name">Malalties minorit脿ries</span></a><meta itemprop="position" content="3"></li></ol></nav> <h1>Malalties minorit脿ries</h1> </div> <div class="columns is-desktop"> <div class="column is-5-widescreen flow flow--3"> <p>Amb la creaci贸 en 2009 del Centre Superior d'Investigaci贸 en Salut P煤blica, actualment Fisabio-Salut P煤blica, es va crear l'脌rea d'Investigaci贸 en Malalties Minorit脿ries (MM). Des de llavors s'est脿 investigant amb la finalitat d'identificar la distribuci贸 i situaci贸 real de les MM i de les seues conseq眉猫ncies en la poblaci贸. Per a aix貌 s'aplica tant metodologia epidemiol貌gica quantitativa com qualitativa, t猫cniques de distribuci贸 espacial i estudis de qualitat de vida de les persones afectades.</p> <p>Els projectes d'investigaci贸 desenvolupats en l'脌rea estan emmarcats tant en l'脿mbit de la Comunitat Valenciana com a escala nacional i internacional, treballant en col路laboraci贸 amb altres registres poblacionals de MM espanyols i europeus, amb la finalitat de millorar la vigil脿ncia de les MM i la qualitat de vida dels pacients amb aquestes patologies i del seu entorn.</p> <p>Des de desembre de 2011 el Registre d'Anomalies Cong猫nites de la Comunitat Valenciana 茅s membre de ple dret de la Xarxa Europea de Registres Poblacionals per a la Vigil脿ncia de les Anomalies Cong猫nites (<a href="https://eu-rd-platform.jrc.ec.europa.eu/eurocat">EUROCAT</a>). A partir de les dades del Registre s'ha elaborat un document sobre la prevalen莽a de les anomalies cong猫nites en la Comunitat Valenciana per al per铆ode 2007-2021.</p> <p class="download-doc"><a href="/media/upload/arxius/salud-publica/enfermedades-raras/2007-2021-informe-ac-2024.pdf">Document anomalies cong猫nites</a></p> <p class="download-doc"><a href="/media/upload/arxius/salud-publica/enfermedades-raras/er-cv-asociacionesjunio2024.pdf">Listat d鈥檈ntitats i associacions de Malaties Minorit脿ries de la Comunitat Valenciana</a></p> <p><strong>Acc茅s al Sistema d'Informaci贸 per a la Investigaci贸 en Malalties Minorit脿ries:</strong>聽<a href="http://www.sp.san.gva.es/webinvent">Plataforma INVENT</a></p> <p class="download-doc">*Advertencia: El enlace a la plataforma INVENT solo funciona en algunos navegadores (Firefox y Edge, pero no en Chrome)</p> <p><strong>Pots contactar amb l'equip a trav茅s del seg眉ent correu: <a href="mailto:enfermedades.raras@fisabio.es">enfermedades.raras@fisabio.es</a></strong></p> </div> <div class="column"> <figure> <img src="/media/upload/cache/GrupoEnfermedadesRaras2024_1709210829_w900webp.webp" alt="脕rea de investigaci贸n de Enfermedades raras"> <figcaption>脕rea de investigaci贸n de Enfermedades raras</figcaption> </figure> </div> </div> <div class="columns is-desktop"> <div class="column is-5-widescreen flow flow--4"> <h2 class="is-size-6">Coordinadora de l'脌rea</h2> <div> <p class="has-text-primary has-text-weight-normal is-size-7">Carmen Martos Jim茅nez</p> <div class="has-text-weight-normal is-size-9"> <p><a href="mailto:carmen.martos@fisabio.es">carmen.martos@fisabio.es</a></p> </div> </div> </div> <div class="column flow flow--4"> <h3>L铆nies d'investigaci贸</h3> <ul class="large-list"> <li>Determinaci贸 de la prevalen莽a de MM (incloent les anomalies cong猫nites i els tumors rars)</li> <li>Identificaci贸 de les desigualtats en MM (incloent les anomalies cong猫nites i els tumors rars)</li> <li>An脿lisi dels determinants de les MM (incloent les anomalies cong猫nites i els tumors rars)</li> <li>Avaluar l'atenci贸 sanit脿ria i social als pacients amb MM i les seues fam铆lies</li> </ul> </div> </div> <div class="text-content flow flow--3"> </div> </div> <div class="column is-one-third-tablet is-one-quarter-desktop"> <nav aria-label="Men煤 secundari"> <ul class="sub-nav link-dn has-text-weight-normal" role="list"> <li><a href="/va/salut-publica/ambient-i-salut/" class="py-xs is-block">Ambient i Salut</a></li> <li><a href="/va/salut-publica/cancer-salut-publica/" class="py-xs is-block">C脿ncer i salut p煤blica</a></li> <li><a href="/va/salut-publica/desigualtats-en-salut/" class="py-xs is-block">Promoci贸 de la salut en poblacions vulnerades</a></li> <li class=" active"><a href="/va/salut-publica/malalties-minoritaries/" class="py-xs is-block" aria-current="page">Malalties minorit脿ries</a></li> <li><a href="/va/salut-publica/genomica-i-salut/" class="py-xs 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