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Spinal Muscular Atrophy, SMN protein and Genetics; A population based study on spinal muscular atrophy in the Netherlands to explore the prevalence of SMA type 1-4 and their severity in the Netherlands by registrating all patients in a so called SMA-database, to elucidate the genetic factors determining disease severity and to determine the value of SMN protein concentrations as a surrogate marker for clinical trials.

The main objective of this prospective population-based study of patients with proximal SMA in the Netherlands is to register SMA patients in the Netherlands in a socalled SMA-database to study prevalence and severity of SMA types 1-4, to perform…

Prevention of breast cancer in high risk women by monitoring microrna expression in nipple aspirate fluid.

To establish biomarkers in nipple aspirate fluid, follow them in time and link them to breast cancer development at its earliest stage in women at high risk for breast cancer. Threshold values of biomarkers will be determined that point to a…

Discordant Monozygotic Twinning in Beckwith-Wiedemann Syndrome:
A Study of Embryonic Pluripotency and Epigenetic Reprogramming

Investigating the molecular and phenotypic differences of iPSCs established from skin fibroblasts of discordant MZ BWS twin pairs.

Factors that influence women*s utilization of prenatal screening for Down*s syndrome. Optimizing decision making and refining current and future screening policies by studying differences in uptake rates, between three European countries*

The striking difference in uptake of Down*s Syndrome screening between countries that otherwise show close resemblance, particularly regarding healthcare policy, social and cultural factors (including non-directiveness of counselling, autonomous and…

Prevalence of bleeding disorders in women with menorrhagia

Main: To confirm the findings of our previous, explorative study that the overall FXI plasma levels in patients with menorrhagia are lower than in controls. Secondary: To establish the prevalence of FXI mutations/polymorfisms in patients with…

Differences in the genetic coding for HFE, HMOX1 and haptoglobin, important in handling of iron and haem, in relation to the severity of haemophilic arthropathy

The aim of the study is to evaluate whether these three genetic characteristics are able to predict the susceptibility to joint damage in haemophilia patients. Therefore we want to determine the association between the progression of radiographic…

Extreme Lipid Phenotypes in Autosomal Dominant Hypercholesterolemia: The ELePHANT Study

1) To investigate the underlying mechanisms of the variable ADH phenotypes in two extreme ADH populations. - Genetically homozygous patients with a phenotype resembling the phenotype encountered in heterozygous ADH patients. - Genetically…

Understanding of malnutrition in people with complex multiple disabilities.

The aim of the study is to understand the nutritional status of people with complex multiple disabilitiest through measurement of body composition and nutritients.The primary objective of the study is:What percentage of people with complex multiple…

Pilot study of everolimus in the treatment of advanced malignancies in patients with Peutz-Jeghers syndrome

To determine the efficacy (as measured by objective tumor response) of single agent everolimus in the treatment of advanced malignancies or high risk polyps of patients known with PJS .

Identifying the gene causing Congenital Short Bowel Syndrome

Identification of the causative gene for CSBS.

EXT 1 and 2 Gene mutations in a Dutch population with HME/MO

How is the genetic expression of EXT1 and EXT2 in our HME/MO population and how does this related to the severity of the disease.

Rubinstein-Taybi syndrome and keloids

The present proposal aims at detecting the pathogenesis of keloids in RTS by studying 50 RTS individuals from 3 countries (Netherlands, Norway, UK) with keloids clinically, and take 3 biopsies in 5 of them from normal skin, edge of normal skin-…

Neurocognitive endophenotyping: on the intersection of genetic disorders and psychiatry

Cognitive testing in a structured and standardized way at a defined group of patients with cognitive dysfunction, with a shared molecular etiology .The intended objectives are:- Detailed human neurocognitive profile defining for each genetic defect…

Molecular mechanisms behind presumed reduced ovarian reserve and embryo competence in BRCA1/2-mutation carriers in IVF/PGD

Analyze processes related to DNA-damage in oocyte development and early-developmental stage embryos from BRCA1/2-mutation carriers compared to controls, using immunohistochemistry and RNA-Seq technology.

postprandial Lipidmetabolism in hMe subjects and healthy controls

In this study, we will evaluate if these HME subjects are characterized by impaired postprandial lipid clearance compared to otherwise healthy control subjects

Phenylketonuria: dopamine transmission and relationship with phenylalanine levels and cognitive performance in adults * a pilot study

The main purpose of the proposed naturalistic pilot study is to compare postsynaptic DA receptor binding (reflecting synaptic DA concentrations) and brain Phe levels in PKU adults with lower blood Phe levels with PKU adults with higher blood Phe…

Identification of White sponge nevus syndrome.

We would like to report a case of an extra-oral manifestation of a White Sponge Nevus (WSN). The purpose of this study was to document a family spanning 6 generations with WSN. It is important to recognize to allow for appropriate genetic counseling…

Searching for GENes in families with frontotemporal dementia, dementia with Lewy bodies and early onset alzheimer DEMentia

The aim of the study is to identify genes that cause early onset Alzheimer dementia, dementia with Lewy bodies and frontotemporal dementia.

Somatosensory profile of pain in myotonic dystrophy type 2 and fibromyalgia

1. What is the somatosensory profile of DM2 patients?2. What are the similarities and differences between the somatosensory profile of pain in myotonic dystrophy type 2 and fibromyalgia patients?

Dissecting Down Syndrome * Study on the Variability in Phenotype

We aim to obtain more insight in the pathogenesis of DS and the potential role of methylation in this by a small initial study (proof of principle). If the study shows a potential role of disturbed methylation in DS pathogenesis we will subsequently…