Gene Testing

The goal of a gene research project is to understand how the genes may lead to syndromes that cause a variety of interesting social, cognitive and emotional features.   To do this, we have evaluated the human genome project and combined this work with advanced brain imaging techniques as well as evaluating cognitive testing.   Genes affect every aspect of human characteristic and behavior.   Gene transcription factors are linked to defective processing, changes in neuro-anatomy and different ways of electrophysiological measures.   The specific relationships between gene transcription errors and expression of abnormalities must be validated and the candidate genes must be confirmed and then related to the origins in human development.   Furthermore, anatomical and electrophysiological characteristics must also be validated.   Some identifiable measures of human behavior may be due in large part to the decreased expression of a single region or gene.   Rarely, individuals with even very small deletions in some areas of the gene may express a syndrome, requiring one to tease out the function of the genes not deleted compared to the defective region of the genes.   By combining   clinical phenotypes with sophisticated genetic techniques, one may be able to define genes that are in part responsible for the overly obvious deficits and/or abilities associated with the genetic error.  
Specific Aims:
1. To understand how the missing genes in deletion syndromes create the interesting features associated with these syndromes by combining information related to genetic testing, brain Imaging,   and neuro-cognitive function.  
2. To determine the contribution of parental history and ethic and racial origin of the deletion.
3. To determine the contribution of allelic sequence variation of the non-deleted chromosomes to neurocognitive phenotypes in deletion syndromes.
4. To determine the contribution of specific genes to syndrome features by evaluating individuals with varying and...