Sökning: "translational research"

Visar resultat 1 - 5 av 185 avhandlingar innehållade orden translational research.

  1. 1. Translational Research of Mendelian Disorders : Applications of Cutting-Edge Sequencing Techniques and Molecular Tools

    Författare :Sanna Gudmundsson; Marie-Louise Bondeson; Maria Wilbe; Niklas Dahl; Joris Veltman; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; translational research; Mendelian disorders; intellectual disability; sequencing technologies;

    Sammanfattning : Up to 8% of all live-born children are affected with a congenital disorder. Some are Mendelian disorders of known etiology, but many are of undetermined genetic cause and mechanism, limiting diagnosis and treatment. LÄS MER

  3. 2. Advanced Genomic Tools in Translational Research of Neurodevelopmental Disorders

    Författare :Josefin Johansson; Maria Wilbe; Joris Vermeesch; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; neurodevelopmental disorders; translational research; advanced genomic technologies; Medicinsk genetik; Medical Genetics;

    Sammanfattning : Neurodevelopmental disorders (NDDs) affect >4.7% of individuals world-wide. Most cases are expected to have an underlying genetic cause. However, only 36–40% of those affected get a genetic diagnosis through exome sequencing. LÄS MER

  4. 3. Building the Bridge from Bench to Bedside: Ethical Issues in Translational Stem Cell Research

    Författare :Kristina Hug; Medicinsk etik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Translational stem cell research; research ethics; values; experimental stem cell-based therapies; patient safety; treatment efficacy; treatment accessibility; first-in-human trials; Parkinson’s disease; Huntington’s disease; priority setting; right to withdraw; human biological material; informed consent;

    Sammanfattning : Abstract in UndeterminedTranslational stem cell research raises many interesting ethical questions, which have, to a greater or lesser degree, been debated at an international as well as at an interdisciplinary level. Nevertheless, there is still no international consensus regarding how a number of ethical questions related to this research should be answered. LÄS MER

  5. 4. Translational research of the quaking gene : Focusing on the conjunction between development and disease

    Författare :Bryn Farnsworth; Lina Emilsson; Roman Chrast; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; QKI; glia; oligodendrocyte; Alzheimer s; schizophrenia; zebrafish; statistics; morpholino; Biologi med inriktning mot evolutionär organismbiologi; Biology with specialization in Evolutionary Organismal Biology;

    Sammanfattning : Quaking (QKI) is an RNA binding protein involved in the post-transcriptional regulation of gene expression. Originally identified as the cause of hypomyelination in a mouse mutant, it has since been consistently implicated in a wide range of neurological diseases. LÄS MER

  7. 5. Multicellular Tumour Spheroids in a Translational PET Imaging Strategy

    Författare :Azita Monazzam; Mats Bergström; Carl Blomqvist; Jörgen Carlsson; Raymond Josephsson; Eric O Aboagye; Uppsala universitet; []
    Nyckelord :Oncology; Positron Emission Tomography; Multicellular Tumour Spheroid; Translational Research; Onkologi;

    Sammanfattning : Positron Emission Tomography (PET) has gained an important roll in clinical for diagnosis, staging and prognosis of a range of cancer types. Utilization of PET for monitoring and evaluation of cancer treatment is an attractive but almost new concept. The proper choice of PET-tracer as a biomarker for treatment follow-up is crucial. LÄS MER