Gene Expression and Biochemical Profiles in Developmental Disorders

Principal Investigator: Walter Kaufmann

The purpose of this protocol is to obtain, process, & characterize from the gene expression and/or biochemical viewpoints de-identified blood & cerebrospinal fluid samples from patients w/ a variety of developmental disorders. These samples, which will have been collected through research studies independently conducted by colleagues at our & other institutions, will be used by our team: (1) to supplement samples obtained from our own research studies, thereby increasing statistical power (e.g., increasing the number of Fragile X subjects) (2) to assemble comparison groups w/ other developmental disorders, which could help determine the specificity of our findings in a particular disorder (e.g., group w/ idiopathic autism to contrast findings in Fragile X syndrome). The studies to be performed w/ the aforementioned samples include a wide range of techniques, which will depend on the nature of the sample (e.g., serum levels of growth factors) & the goals of the comparison (e.g., histone profiles in idiopathic autism to be compared with those in Fragile X syndrome). The samples will be provided only with information that constitutes a "limited data set" (e.g., age, gender, IQ, medications). We expect to receive 50 samples per year for a total of 150 samples over the three year period.