Molecular Genetics - Lisa G. Shaffer, Ph.D., Washington State University

• Define methodologies for fast and accurate genotyping.
• Define (with bioinformatics group) a standard nomenclature for genotype data.
• Define standards for the definition of critical regions in the correlation of genotype and phenotype and methodologies for moving from critical regions to single genes.
• Define genotypic screening strategies to identify mildly affected individuals or individuals with small deletions or duplications (e.g., screening target populations such as children with autism or adults with psychiatric conditions).

Endocrinology and Metabolism - Gerard T. Berry, M.D. Thomas Jefferson University Medical College

• Develop systematic and longitudinal evaluation of children with short stature and hypotonia.
• Develop metabolic and endocrinologic analyte dataset to define subclinical variation to be correlated with genes/critical regions and potentially identify cumulative effects.

Neuro & Anatomical Imaging - Joan T. Richtsmeier, Ph.D., Penn. State University

• Define standardization of data being generated by MRI, PET, TMS, DTI, fMRI, EEG/ERPs and MEG using a defined set of equivalent instrumentation.
• Devise standardized protocol for full-body imaging evaluation of anatomical variation.
• Determine anatomical norms throughout development – use sibs and standard data acquisition set so data can be unified. Determine appropriate frequency of evaluation.

The Senses - Bronya J. Keats, Ph.D., Louisiana State University Health Science Center

• Define the set of measures that are essential for accurate evaluation of hearing ability.
• Define the set of measures that are essential for accurate evaluation of visual ability.
• Define reliable measures for characterization of dysmorphic ear and eye features.
• Develop a comprehensive set of physiologic measures for quantifying functional acuity of sight and hearing.

Cognitive Neuroscience - Carolyn B. Mervis, Ph.D., University of Louisville

• Develop a consensus for the evaluation of early vocabulary growth and its relationship to later cognitive development.
• Determine a consensus as to the best current developmental assessment instrument or battery of instruments to be used on all children with chromosome abnormalities.
• Develop objective and quantifiable cognitive profiles for children with aneusomy syndromes.

Social Neuroscience - Catherine Lord, Ph.D., University of Michigan

• Develop and/or modify existing assessment instruments to evaluate social development and behavior across chronological age and differences in overall skill level, with a particular emphasis on describing trajectories of development.
• Determine consensus-based measures of social development and behavior, particularly focusing on individuals with low IQ.
• Adapt or select measures of social development and behavior so that they can be used effectively in conjunction with cognitive and neurobiological assessments of function to describe phenotypic patterns and individual differences within syndromes.

Data integration/ Bioinformatics - Peter J. Tonellato, Ph.D., Medical College of Wisconsin

• Develop data management system for storage and retrieval of extensive medical records, study data and genotype information.
• Develop algorithms for performing genotype /phenotype and phenotype/phenotype correlations within the above data system.
• Develop internet based medical records access system for families and PCPs.

Molecular Genetics - Lisa G. Shaffer, Ph.D., Washington State University

• Define methodologies for fast and accurate genotyping.
• Define (with bioinformatics group) a standard nomenclature for genotype data.
• Define standards for the definition of critical regions in the correlation of genotype and phenotype and methodologies for moving from critical regions to single genes.
• Define genotypic screening strategies to identify mildly affected individuals or individuals with small deletions or duplications (e.g., screening target populations such as children with autism or adults with psychiatric conditions).

Endocrinology and Metabolism - Gerard T. Berry, M.D. Thomas Jefferson University Medical College

• Develop systematic and longitudinal evaluation of children with short stature and hypotonia.
• Develop metabolic and endocrinologic analyte dataset to define subclinical variation to be correlated with genes/critical regions and potentially identify cumulative effects.

Neuro & Anatomical Imaging - Joan T. Richtsmeier, Ph.D., Penn. State University

• Define standardization of data being generated by MRI, PET, TMS, DTI, fMRI, EEG/ERPs and MEG using a defined set of equivalent instrumentation.
• Devise standardized protocol for full-body imaging evaluation of anatomical variation.
• Determine anatomical norms throughout development – use sibs and standard data acquisition set so data can be unified. Determine appropriate frequency of evaluation.

The Senses - Bronya J. Keats, Ph.D., Louisiana State University Health Science Center

• Define the set of measures that are essential for accurate evaluation of hearing ability.
• Define the set of measures that are essential for accurate evaluation of visual ability.
• Define reliable measures for characterization of dysmorphic ear and eye features.
• Develop a comprehensive set of physiologic measures for quantifying functional acuity of sight and hearing.

Cognitive Neuroscience - Carolyn B. Mervis, Ph.D., University of Louisville

• Develop a consensus for the evaluation of early vocabulary growth and its relationship to later cognitive development.
• Determine a consensus as to the best current developmental assessment instrument or battery of instruments to be used on all children with chromosome abnormalities.
• Develop objective and quantifiable cognitive profiles for children with aneusomy syndromes.

Social Neuroscience - Catherine Lord, Ph.D., University of Michigan

• Develop and/or modify existing assessment instruments to evaluate social development and behavior across chronological age and differences in overall skill level, with a particular emphasis on describing trajectories of development.
• Determine consensus-based measures of social development and behavior, particularly focusing on individuals with low IQ.
• Adapt or select measures of social development and behavior so that they can be used effectively in conjunction with cognitive and neurobiological assessments of function to describe phenotypic patterns and individual differences within syndromes.

Data integration/ Bioinformatics - Peter J. Tonellato, Ph.D., Medical College of Wisconsin

• Develop data management system for storage and retrieval of extensive medical records, study data and genotype information.
• Develop algorithms for performing genotype /phenotype and phenotype/phenotype correlations within the above data system.
• Develop internet based medical records access system for families and PCPs.