Neurogenetics and 22q11.2 deletion syndrome
We are studying a relatively rare disorder with a known genetic etiology, termed 22q11.2 deletion syndrome (22q11.2DS; also named DiGeorge syndrome or velo-cardio-facial syndrome). The phenotypic expression of 22q11.2DS is highly variable and ranges from severe life-threatening to less severe conditions. Its clinical presentation might include multi-organ dysfunction such as cardiac and palatal abnormalities, and variable developmental delays, cognitive deficits, and neuropsychiatric conditions.
With this project we aim to characterize the different cognitive and neuropsychiatric profiles in 22q11.2DS, and to understand their relation to neural function. To do that, we use high-density electrophysiology and a battery of cognitive and psychiatric tests. We are particularly interested in the high incidences of intellectual disability and schizophrenia in this population.
If you have 22q11.2DS or know someone who does and are looking for medical care, check our Regional Center for 22q11.2 Deletion Syndrome. If you are looking for more information about the syndrome, check the 22q Family Foundation website.
CNL lab members at the ugly sweater run in NYC, running for 22q11.2DS awareness