Projects
A transcriptome-directed approach to brain malformations. University of Antwerp
A combination of Multi-Electrode Array (MEA) and Live Mouse Tracker (LMT) as a versatile drug screening platform for Fragile X syndrome. University of Antwerp
Astrocytes dysfunctions in Phelan McDermid syndrome: from mechanisms towards new therapeutic strategies KU Leuven
The lack of one copy of the Shank3 gene is the main cause of the neuropsychiatric symptoms of Phelan McDermid syndrome (PMS), a neurodevelopmental disorder characterised by intellectual disability and autistic-like deficits. To date, Shank3-related syndromes have only been investigated from a neuronal perspective, but recent data have highlighted a possible involvement of astrocytic Shank3 in the pathophysiology of PMS. Astrocyte-specific ...
Patient-centered Targeting of Epigenetic Vulnerabilities in Neurodevelopmental Disorders: A Cross-disciplinary Platform for Druggable Disease Models KU Leuven
Intellectual disability disorders (IDDs) represent a spectrum of neurodevelopmental disorders characterized by early childhood onset of learning impairment behavior defects. IDDs are linked to detrimental factors that affect cortical development. Many mutations that cause IDDs have been identified. They represent pathways linked to synaptic function and epigenetic gene-expression control Since epigenetic gene-expression is a key process ...
Steunfonds Marguerite-Marie Delacroix: Regulatory landscaping: towards improved genetic diagnosis and therapy for SATB2-associated syndrome (Lisa Hamerlinck) Ghent University
The SATB2-associated syndrome (SAS) is an autosomal dominant disorder caused by loss-of-function alterations of SATB2 and characterized by developmental delay/intellectual disability with absent or limited speech development, palatal and dental abnormalities, feeding difficulties, behavioral problems, and discernable facial features. Recently several cases with a balanced chromosomal aberration (BCA) 3’ to SATB2 have been reported. All these ...
A multi-omics approach to address the role of ZFHX3 in neuronal development Ghent University
Intellectual disability (ID) is a heterogeneous disorder, and hitherto, over 1000 genes have been described to be involved in the etiology of ID. Through a large international collaboration, we collected a cohort of 27 patients with ID and congenital anomalies, and a deletion or protein truncating variant in the ZFHX3 gene. The most consistent phenotype of ZFHX3 aberrations has been determined by ID, postnatal growth retardation, feeding ...
KA2 European Health Care Final Dissertation: a digital, international and collaborative co-designed model to address health care societal challenges Odisee vzw
Autophagy dysregulation in cerebral palsy: a common mechanism. University of Antwerp
Long Read Sequencing for the detection of cryptic structural variation and methylome changes in patients with developmental disorders. KU Leuven
Technological improvements over the last decades have been instrumental for the identification of numerous chromosomal anomalies and monogenetic diseases, shedding the light on the extreme genetic heterogeneity underlying developmental disorders. Despite the associated significant increase in diagnostic yield about 40% of patients remain without molecular diagnosis. We hypothesize that cryptic structural variations and methylome anomalies are ...