Search for dissertations about: "disease modifying"

Showing result 1 - 5 of 151 swedish dissertations containing the words disease modifying.

2. 1. Complex disease genetics : Utilising targeted sequencing and homogeneous ancestry

   Author : Argyri Mathioudaki; Kerstin Lindblad-Toh; Panagiotis Deloukas; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; ankylosing spondylitis; breast cancer; targeted sequencing; Sweden; genetics; population stratification.; Molekylär genetik; Molecular Genetics;

   Abstract : The complex disease investigations presented in this thesis aimed to provide new information regarding underlying genetics by using targeted sequencing and ethnically homogeneous cohorts. This work moved past current methodologies and addressed data stratification issues, that might have been hindering new findings. READ MORE

4. 2. Susceptibility to chronic liver disease

   Author : Maria Antonella Burza; Göteborgs universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; chronic liver disease; susceptibility; human genetics; NAFLD; ALD; PNPLA3;

   Abstract : The onset and the progression of chronic liver disease involve environmental and genetic factors. Hepatic stellate cells (HSCs) are important players in these processes and are the main storage site for retinol. READ MORE

5. 3. On inflammation and cardiovascular disease in patients with rheumatoid arthritis

   Author : Solveig Wållberg Jonsson; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Rheumatoid arthritis; mortality; cardiovascular disease; ischemic heart disease; inflammation; lipids; Lp a ; haemostasis; fibrinolysis; atherogenesis; thrombogenesis;

   Abstract : Patients with rheumatoid arthritis (RA) have a shorter life span than the general population. An increased death due to cardiovascular disease (CVD) has been reported. RA is characterized by synovitis and joint destruction accompanied by an acute phase reaction and systemic features. READ MORE

6. 4. Biomarkers for Alzheimer's disease and the APOE polymorphism

   Author : Ronald Lautner; Göteborgs universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Alzheimer’s disease; Biomarkers; APOE; Cerebrospinal fluid; β-amyloid;

   Abstract : Alzheimer’s disease (AD) is the most common form of dementia and cerebrospinal fluid (CSF) biomarkers reflecting the core pathology of AD are now widely used for diagnosis making, in particular β-amyloid[1-42] (Aβ42) reflecting amyloid plaque pathology, phosphorylated tau (P-tau) reflecting neurofibrillary tangle pathology and total tau (T-tau) reflecting general neurodegeneration. In addition, blood-based biomarkers for AD are in the pipeline with recent studies showing promising diagnostic potential. READ MORE

7. 5. Mapping the Huntington's disease process using cerebrospinal fluid analysis

   Author : Valter Niemelä; Anne-Marie Landtblom; Dag Nyholm; Jimmy Sundblom; Edward Wild; Uppsala universitet; []
   Keywords : Neurodegeneration; Huntingtons disease; Neurogenetics; Neuroinflammation; Neurofilament light; tau; Proenkephalin; Neurology; Neurologi;

   Abstract : Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder, caused by a CAG-repeat expansion in the HTT-gene. Today there are no disease-modifying therapies (DMTs), but several promising clinical trials are underway, including therapies that reduce mutant huntingtin expression. READ MORE