The complete sequencing of the human genome has opened an unprecedented window for the study of children with chromosome abnormalities. For the first time, the locations of all of the genes that may be deleted or duplicated can be ascertained with a high degree of confidence.  However, there is still much work to be done in order to understand:

• What the majority of the newly identified genes actually do.
• What the consequences of duplication or deletion of these genes are.

With the completion of the Human Genome Project, we believe that there is now a compelling need to catalogue the human phenome systematically (phenomics), and to correlate the genomic variability with phenomic variation. The goal of such an undertaking is a comprehensive understanding of the relationship between genotype and phenotype. Ultimately this knowledge will help the affected individuals by leading to treatments and therapies that are targeted precisely to their genotype.

Understanding and devising treatments for people with aneusomies will require the creation of a different methodology than that used for single gene disorders.  By definition, chromosome abnormalities involve multiple genes and the resulting phenotype involves multiple body systems. Since most genetic diseases caused by single genes affect primarily one body system, the usual methods for research into these diseases are to focus on that primary body system. This in turn usually involves a single or very limited number of medical subspecialties (and one NIH Institute). This “single body system” approach is not a facile approach for studying aneusomies. As a consequence, new interdisciplinary teams of researchers need to be formed.

Therefore, the objectives of the World Congress on Chromosome Abnormalities are to:

1.  Bring together the necessary medical and scientific professionals from relevant fields of study. These fields should include: genetics, bioinformatics, neurology, endocrinology, cognitive neuroscience and bioimaging.

2.  Identify protocols that are comprehensive and appropriate for this population. Standardize protocols across specific fields of expertise and adapt them to fit a wide range of typical and atypical children. Development of new protocols will ensure standard terminology and standard evaluations are used by all medical and scientific professionals.

3.  Establish the bioinformatics systems capable of unifying complex medical data with genotypic data

These objectives will be accomplished by:

1.  Convening the World Congress on Chromosome Abnormalities to establish a common baseline of understanding across disciplines with regard to the current state of the science and potential for progress.

2.  Initiating Working Groups to establish instruments and standards for the study of chromosome abnormalities. Working groups will continue and complete their work by teleconference after the World Congress. The working groups will be:

• Molecular Genetics
• Endocrinology and Metabolism
• Neuro & Anatomical Imaging
• The Senses
• Cognitive Neuroscience
• Social Neuroscience
• Data integration/ Bioinformatics

3.  Disseminating the conference reports through publication in a peer reviewed journal.

The complete sequencing of the human genome has opened an unprecedented window for the study of children with chromosome abnormalities. For the first time, the locations of all of the genes that may be deleted or duplicated can be ascertained with a high degree of confidence.  However, there is still much work to be done in order to understand:

• What the majority of the newly identified genes actually do.
• What the consequences of duplication or deletion of these genes are.

With the completion of the Human Genome Project, we believe that there is now a compelling need to catalogue the human phenome systematically (phenomics), and to correlate the genomic variability with phenomic variation. The goal of such an undertaking is a comprehensive understanding of the relationship between genotype and phenotype. Ultimately this knowledge will help the affected individuals by leading to treatments and therapies that are targeted precisely to their genotype.

Understanding and devising treatments for people with aneusomies will require the creation of a different methodology than that used for single gene disorders.  By definition, chromosome abnormalities involve multiple genes and the resulting phenotype involves multiple body systems. Since most genetic diseases caused by single genes affect primarily one body system, the usual methods for research into these diseases are to focus on that primary body system. This in turn usually involves a single or very limited number of medical subspecialties (and one NIH Institute). This “single body system” approach is not a facile approach for studying aneusomies. As a consequence, new interdisciplinary teams of researchers need to be formed.

Therefore, the objectives of the World Congress on Chromosome Abnormalities are to:

1.  Bring together the necessary medical and scientific professionals from relevant fields of study. These fields should include: genetics, bioinformatics, neurology, endocrinology, cognitive neuroscience and bioimaging.

2.  Identify protocols that are comprehensive and appropriate for this population. Standardize protocols across specific fields of expertise and adapt them to fit a wide range of typical and atypical children. Development of new protocols will ensure standard terminology and standard evaluations are used by all medical and scientific professionals.

3.  Establish the bioinformatics systems capable of unifying complex medical data with genotypic data

These objectives will be accomplished by:

1.  Convening the World Congress on Chromosome Abnormalities to establish a common baseline of understanding across disciplines with regard to the current state of the science and potential for progress.

2.  Initiating Working Groups to establish instruments and standards for the study of chromosome abnormalities. Working groups will continue and complete their work by teleconference after the World Congress. The working groups will be:

• Molecular Genetics
• Endocrinology and Metabolism
• Neuro & Anatomical Imaging
• The Senses
• Cognitive Neuroscience
• Social Neuroscience
• Data integration/ Bioinformatics

3.  Disseminating the conference reports through publication in a peer reviewed journal.