Projects
Pooled CRISPR/Cas9 screen in human stem cell-derived motor neurons to identify new therapeutic targets for amyotrophic lateral sclerosis (ALS) KU Leuven
Amyotrophic lateral sclerosis (ALS) is the most prevalent adult-onset neurodegenerative disorder characterized by the selective death of motor neurons which cause the death of the patients within 2 to 5 years after first diagnosis. There is no cure available. Cell reprogramming technology enabled the generation of human induced pluripotent stem cells (hiPSCs) from somatic cells of ALS patients to model ALS in a dish. CRISPR/Cas9 genome ...
Elucidating the pathogenicity of genetic variants of uncertain significance in Brugada syndrome patients by functional modelling in hiPSC-derived cardiomyocytes and zebrafish. University of Antwerp
BOF Sabbatical 2024 - P. Ponsaerts. University of Antwerp
Targeting the immunodeficiency and neurodegeneration in a hereditary sensory neuropathy (HSAN type I) associated with dysfunction of the serine palmitoyltransferase. University of Antwerp
Development of a human in vitro neuronal model for the MECP2 duplication syndrome using induced pluripotent stem cell technology KU Leuven
The causal relationship between a disease and the underlying
genetic defect are commonly studied in animal models. However, species specific
difference in the genetic, anatomical andphysiological characteristics between
animals and humans present a major barrier in extending
the information to human diseases. Alsoin few instances,
the preclinical treatments that show success in ...
Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes to Model Chronic Cardiac Disorders KU Leuven
Cardiomyopathy is a leading cause of death in patients affected by Alström syndrome (ALMS) and Duchenne muscular dystrophy (DMD). Both disorders have a genetic origin, caused by mutations in the ALMS1 and DMD gene, respectively. Despite intense research, their precise pathologic function remains unclear.
With the discovery of human embryonic (ESCs) and induced pluripotent stem cells (iPSCs) efforts have been made ...
A Deaf Heart Promotes Proliferation: Using iPSC-Based 3D Models to Study Mitogenic Cardiomyopathy in Alström Syndrome. KU Leuven
Elucidating the role of mutated fuced in sacroma (FUS) oligodenrocytes in the pathophysiology of amyotrophic lateral sclerosis using induced pluripotent stem cells. KU Leuven
ALS is a MN disease in which degeneration of both upper and lower MNs causes muscle weakness, paralysis and eventually death 2-3 years after symptom onset. Besides MNs, glial cells in the CNS are also involved as their supportive function towards neurons is affected in the disease. In 10% of the cases, ALS is familial and caused by - mostly autosomal dominant - genetic mutations of which C9ORF72, SOD1, TARDBP and ...