Projects
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Identification of functional molecular pathways in the pulmonary neuroepithelial body microenvironment: Laser capture microdissection and gene expression study. University of Antwerp
This project aims at identifying pathways that are involved in the normal function of NEBs in postnatal lungs. The NEB microenvironment will be dissected in large numbers via advanced laser capture microdissection and will be used forgene expression analysis.
Identification of a new candidate gene for autism in a patient with a balanced translocation. University of Antwerp
This project represents a formal research agreement between UA and on the other hand a private institution. UA provides the private institution research results mentioned in the title of the project under the conditions as stipulated in this contract.
Unraveling the genetic etiology of sensory disorders: The role of calcium signaling genes at the auditory inner hair cell ribbon synapse and identification of new genes. University of Antwerp
Impairment in auditory and/or visual senses has a great impact on a child's ability to learn by affecting their access to the physical, social, and instructional environment. Congenital sensory disorders are often caused by a mutation in a single gene, and can be designated as monogenic disorders. The identification of these genes is one of the main goals of this projectand is of significant importance in understanding normal pathological and ...
Identification of new genes and disease modifier alleles for complex retinal dystrophies and ciliopathies Ghent University
Over 200 disease genes and loci account for ~50% of cases, leaving dozens of genes awaiting discovery. In addition to non-syndromic RDs, there is a wide range of complex RDs, with accompanying phenotypes varying from red blood cell to skeletal aberrations. A subset of complex RDs has been classified as ciliopathies, a broad spectrum of severe phenotypes caused by mutations in ciliary genes. Intriguingly, a majority of families with retinal ...
Identification and characterization of new causal genes and risk factors for 'Lewy body' brain diseases. University of Antwerp
Lewy body diseases (LBD) represent a clinicopathological spectrum of disorders ranging from Alzheimer disease (AD) over Lewy body dementia (DLB) to Parkinson disease (PD). Despite the relatively high combined prevalence of LBD, the genetic etiology of these neurodegenerative brain diseases remains to be further elucidated. Unraveling the genetic components of complex human diseases is one of the main challenges in the field of modern human ...
Identification of susceptibility genes for psychiatric disorders through a functional genomic approach. University of Antwerp
Bipolar (BP) disorder and schizophrenia (SZ) are among the most common brain diseases worldwide and result in high social and economical costs in terms of morbidity as well as mortality. Both genetic and environmental factors play an important role in the development of BP disorder and SZ. It is supposed that both disorders result from an interaction of susceptibility genes and/or as a result of complex genetic mechanisms. The aim of this ...
Identification of disease-associated bicuspid aortic valve-related aortopathy genes by using single cell exploration of a smad6 mouse model for outflow tract abnormalities (Grant Award voor Ilse Luyckx). University of Antwerp
Bicuspid aortic valve (BAV) is the most common congenital heart defect, affecting 1-2% of the general population. This aortic valve defect, which has a male predominance (3:1), is characterized by two semilunar leaflets instead of the normal three. BAV usually remains unnoticed, until patients develop clinical complications such as valvular dysfunction and/or thoracic aortic aneurysm (TAA, 20-30%). TAA is a pathological widening of the aorta in ...
Identification and characterization of novel causal genes for Lewy Body disorders using next-generation sequencing. University of Antwerp
Lewy body disorders (LBD) represent a heterogenic group of neurodegenerative brain diseases (NBD) characterized by the presence of intraneuronal α-synuclein containing inclusions, called Lewy bodies. The Lewy body variant of Alzheimer's disease marks one end of the spectrum, Parkinson's disease (PD) the other and Lewy body dementia and Parkinson with dementia are both located in-between. PD is the second most common NBD, affecting ~2 % of the ...