That we are born at all is pure magic! In fact, inside the womb, the embryo traverses an obstacle course, an obstacle course to being...
current research interests
Human neurodevelopmental disorders range from devastating to disabling. Learning more about them is imperative for us to help prevent, diagnose, manage and alleviate the suffering. We are interested in two classes of neurodevelopmental disorders.
Mendelian disorders, that are caused by single gene mutations; usually highly penetrant and very rare e.g. Rubinstein Taybi Syndrome, Dravet Syndrome
Complex disorders, that result from interplay of multiple variations or mutations in the genome, and are more common e.g. Specific Learning Disorders (Dyslexia, Dyscalculia, Dysgraphia), ADHD and Autism Spectrum Disorders.
Using zebrafish models of these diseases we aim to dig deeper into the brain pathologies. This means:
-Using genetic manipulations such as transgenics, antisense knockdowns and CRISPR-based mutations to perturb gene functions.
-Looking at neuronal and glial abnormalities in the brain
-Figuring out why the structural changes happened and what these changes do in the brain
-Creating behavioural correlates to assess the role of candidate genes
AUTISM SPECTRUM DISORDER
We are building a cohort of Autism Spectrum Disorder (ASD) patients. The patients samples will be subjected to genomic analysis to identify known and novel genetic changes that lead to ASD. Patient cells will also be used to create induced Pluripotent Stem Cells (iPSCs). These cells will be instrumental in investigating the role of the genes we identify in the neurodevelopmental program. More here.
Zebrafish models of human diseases: our previous work