Clinical characteristics of genetic disorders, Fragile X syndrome, Neuronal Ceroid Lipofuscinoses, CC2D1A associated disorders.
developing of strategies for gene therapy of brain disorders.
Clinical or Educational Responsibilities
I am the Director of the Genetics Division at the Department of Pediatrics, Child Health Institute. I routinely evaluate and manage patients with genetic disorders.
I participate in the education of pediatric residents, genetic counseling students, neonatology fellows and medical students