Structural abnormalities of the brain are usually the result of disruption during fetal development. Children with disorders of brain development often have significant neurologic disabilities, learning impairments and epilepsy. Knowing the genetic cause is extremely important to the patients and their families, as this allows a specific diagnosis, more appropriate medical management and accurate genetic counseling. In addition, the knowledge of the specific genetic cause improves our understanding of the mechanisms of brain development and aids in developing specific treatments. Many disorders of brain development are poorly understood. Recently, new genetic technologies- such as whole exome sequencing- have become available and allow the simultaneous study of all a person's genes. My research program focuses of the study of the genetic causes of disorders of brain development using novel whole exome sequencing technology. I have collected three groups of patients with abnormalities of brain development of unknown genetic cause. These disorders are:
1. Congenital mirror movements, a rare disorder where affected individuals have involuntary movements that "mirror" their movements on the opposite side of their body. I have previously identified the first known gene that causes mirror movements, however, most individuals still do not have a known cause.
2. Schizencephaly, a brain abnormality characterized by an abnormal "split" in the brain. Its genetic basis remains unknown.
3. Focal cortical dyplasias, groups of disorganized and abnormal cells in the brain that are the major cause of severe epilepsy. Because the abnormal brain tissue is often removed during surgery for treatment of the epilepsy, genetic study on the tissue itself is possible.
My aim is to identify the genes responsible for these debilitating disorders, in order to shed light on the underlying mechanism, improve clinical care of the patients and families, and ultimately develop novel treatments and specific therapies.