Trial Information

Clinical and Molecular Manifestations of Six Categories of Genetic Disorders

Individuals and their families affected by disorders with a potentially genetic basis within
six broad categories will be evaluated over time to characterize the natural and clinical
history of various specific disorders. Medical and laboratory evaluations will be completed
to identify areas of management concern that have not been previously described. Further
protocols will be developed addressing specific disorders once a number of affected
individuals have been investigated and is sufficient to query various aspects of those
disorders. Issues for both diagnosis and medical management of those affected with certain
genetic disorders will be collated and addressed within a national consensus conference
format. In addition, phenotype to genotype correlation will be established to further
understanding of specific molecular alterations on phenotypic expression. This broad-based
protocol will also facilitate the training of fellows in medical genetics, graduate and post
graduate training in genetics and genetic counseling.