1 Ocak 2016 Dergi makalesi Açık Erişim

Gulbakan, Basri; Ozgul, Riza Koksal; Yuzbasioglu, Ayse; Kohl, Matthias; Deigner, Hans-Peter; Ozguc, Meral

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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/53875</identifier>
  <creators>
    <creator>
      <creatorName>Gulbakan, Basri</creatorName>
      <givenName>Basri</givenName>
      <familyName>Gulbakan</familyName>
      <affiliation>Hacettepe Univ, Inst Child Hlth, Pediat Metab Unit, Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Ozgul, Riza Koksal</creatorName>
      <givenName>Riza Koksal</givenName>
      <familyName>Ozgul</familyName>
      <affiliation>Hacettepe Univ, Inst Child Hlth, Pediat Metab Unit, Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Yuzbasioglu, Ayse</creatorName>
      <givenName>Ayse</givenName>
      <familyName>Yuzbasioglu</familyName>
    </creator>
    <creator>
      <creatorName>Kohl, Matthias</creatorName>
      <givenName>Matthias</givenName>
      <familyName>Kohl</familyName>
      <affiliation>Furtwangen Univ, Inst Precis Med, Med &amp; Life Sci Fac, Villingen Schwenningen, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Deigner, Hans-Peter</creatorName>
      <givenName>Hans-Peter</givenName>
      <familyName>Deigner</familyName>
    </creator>
    <creator>
      <creatorName>Ozguc, Meral</creatorName>
      <givenName>Meral</givenName>
      <familyName>Ozguc</familyName>
    </creator>
  </creators>
  <titles>
    <title>Discovery Of Biomarkers In Rare Diseases: Innovative Approaches By Predictive And Personalized Medicine</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2016</publicationYear>
  <dates>
    <date dateType="Issued">2016-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/53875</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1186/s13167-016-0074-2</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">There are more than 8000 rare diseases (RDs) that affect &amp;gt;5 % of the world's population. Many of the RDs have no effective treatment and lack of knowledge creates delayed diagnosis making management difficult. The emerging concept of the personalized medicine allows for early screening, diagnosis, and individualized treatment of human diseases. In this context, the discovery of biomarkers in RDs will be of prime importance to enable timely prevention and effective treatment. Since 80 % of RDs are of genetic origin, identification of new genes and causative mutations become valuable biomarkers. Furthermore, dynamic markers such as expressed genes, metabolites, and proteins are also very important to follow prognosis and response the therapy. Recent advances in omics technologies and their use in combination can define pathophysiological pathways that can be drug targets. Biomarker discovery and their use in diagnosis in RDs is a major pillar in RD research.</description>
  </descriptions>
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