phs000455
Molecular Genetic Studies of Developmental Disorders
The overall goal of this research project is to advance our scientific understanding of the nature, causes and consequences of human developmental disorders, especially those involving brain development. The specific aims of this research project are to: (1) ascertain individuals with a wide range of developmental disorders, (2) collect biological samples on a subset of these potential subjects, (3) recognize and delineate known and novel human developmental disorders, and define their natural history, (4) identify the causative genes and biological pathways associated with these disorders, (5) perform genotype-phenotype analysis, (6) initiate functional studies of the involved genes and proteins when needed, and (7) communicate important findings to the medical and bioscience communities. As the project has matured over the past decade, the large subject database and sample repository has become a critical resource for research in human developmental... (for more see dbGaP study page.)