Search for dissertations about: "Mendelian disorders"

Showing result 6 - 10 of 10 swedish dissertations containing the words Mendelian disorders.

  2. 6. Genetic studies of susceptibility to inflammation, autoimmunity, and hematological malignancy

    Author : Bianca Tesi; Karolinska Institutet; Karolinska Institutet; []
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    Abstract : The immune system represents the body’s defense against infectious organisms. Inborn defects of the immune system, called primary immunodeficiencies (PIDs), are a heterogeneous group of Mendelian disorders. Clinically, PIDs can cause isolated to broad susceptibility to pathogens, severe hyperinflammation, autoimmunity, allergy, and cancer. READ MORE

  4. 7. Bioinformatic methods in rare disease genomics

    Author : Måns Magnusson; Karolinska Institutet; Karolinska Institutet; []
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    Abstract : The larger goal of medical genetics is to map genotype to phenotype and to understand how genomic variation affects human health. In the field of rare disease genomics, there is a mendelian assumption that states: one disease one variant. READ MORE

  5. 8. Candidate gene analyses and genome-wide screens in multiple sclerosis

    Author : Vilmantas Giedraitis; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Specific disease causing mutations have been identified for many disorders. Most of these disorders are of Mendelian origin and there have been very few successful attempts in the genetic dissection of complex traits. READ MORE

  6. 9. The gut-brain axis in Parkinson’s disease : epidemiological studies on causes, underlying mechanisms and novel treatments

    Author : Xiaoying Kang; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Parkinson’s disease (PD) is an age-related neurodegenerative disease with highly heterogeneous symptomatology. Little is known about why PD occurs. The gastrointestinal tract has been postulated as an origin of PD pathology, which then spreads along the gut- brain axis to enter the brain. READ MORE

  7. 10. NGS based studies on primary immunodeficiencies (PIDs) : causative gene identification, tool development and application

    Author : Mingyan Fang; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Primary immunodeficiency diseases (PIDs) are composed by a group of highly heterogeneous immune system diseases, of which approximately 350 forms of PID have been described so far. The causative gene of around 60% of patients with PIDs has yet unknown. READ MORE