Jonathan Vis | 21-12-2016 | Algorithms for the Description of Molecular Sequences Unambiguous sequence variant descriptions are important in reporting the outcome of clinical diagnostic DNA tests. The standard nomenclature of the Human Genome Variation Society (HGVS) describes the observed variant sequence relative to a given reference sequence. We propose an efficient algorithm for the extraction of HGVS descriptions [...]
Marjon Stijntjes | 12-10-2016 |A Study into Genes Encoding Longevity in Humans Human ageing is characterized by a gradual decline in cognitive and physical performance strongly determining someone’s functional abilities and quality of life. In this thesis, insights into these age-related changes and most importantly their interactions are given, which might be suggestive for [...]
Peter Thijssen| 01-09-2016 | Genetics and epigenetics of repeat derepression in human disease A large part of the human genome consists of repetitive DNA. In this thesis two human diseases have been studied in which deregulation of repetitive DNA is a central feature: facioscapulohumeral muscular dystrophy (FSHD) and immunodeficiency, centromere instability and facial anomalies [...]
Yolande Ramos | 26-05-2015 | Osteoarthritis, a degenerative disease of the articular joints : towards the implementation of functional genomics in OA Osteoarthritis (OA) is an age related disorder of the joints characterized by pain, crepitus, and stiffness resulting in decreased mobility. Pathophysiology consists of cartilage degeneration and bone remodeling, however, knowledge of OA [...]
Jenny van Dongen | 16-04-2015 | (Epi)genetics and twins The research described in this thesis was characterized by two major themes: the first was related to the question to which extent variation between individuals in inflammation biomarkers and metabolic syndrome traits are caused by the impact of genetic and environmental differences between people. The [...]
Erik van den Akker | 28-02-2015 | Computational Biology in Human Aging. An omics data integration approach Throughout this thesis, human aging and its relation to health are studied in the context of two parallel though complementary lines of research: biomarkers and genetics. The search for informative biomarkers of aging focuses on easy accessible [...]
Rudolf Talens | 08-01-2015 |Studies into epigenetic variation and its contribution to cardiovascular disease Epigenetic mechanisms regulate cellular gene expression potential without changing the genetic code. Like the genetic sequence, epigenetic marks are faithfully transmitted during mitosis and are generally stable in differentiated cells, but in contrast with the static genome, the epigenome retains [...]
Joris Deelen |25-06-2014 | Genetic and biomarker studies of human longevity The aim of this thesis was to identify novel lifespan regulating loci that influence human longevity and population mortality. To this end, we performed two genome-wide association studies, one of long-lived individuals from the family-based Leiden Longevity Study (LLS) and an extended one [...]
Willemijn Passtoors | 19-12-2013 | Transcriptomic studies in human ageing and longevity The aim of this thesis was to identify in the human blood transcriptome, relevant pathways and potential biomarker profiles that associate with chronological age and discriminate between __healthy agers__ from long-lived families and normative ageing controls. Such profiles may harbor determinants of [...]
Elmar Tobi | 29-10-2013 | Epigenetic differences after prenatal adversity: The Dutch Hunger Winter This thesis is a study on the link between early development and adult health. Studies in animal models indicate that so-called epigenetic marks may be influenced by nutrition during development, changing the expression of genes implicated in disease. Epigenetics may [...]
