We have come together for this first-of-its-kind event because we share the vision that...
“Children born with chromosome abnormalities will have optimized and specific treatments so they can lead healthy and autonomous lives.”
This Congress brought together the individuals with chromosome abnormalities, their families, their genetic advocacy organizations and clinician scientists who are all working together to achieve this common vision. The goal is to understand the consequences of chromosome abnormalities on specific organs and tissues so that treatment regimes can be devised which are specific to each individual’s deletion or duplication.
There were two major goals for this inaugural meeting. The first goal was to strengthen and solidify the genetic advocacy community so they can maximize their support of research and for the affected families. The second goal was to create an interdisciplinary community of clinicians and scientists who will devise standardized evaluation tools for comprehensive phenotypic and genotypic evaluation of individuals with chromosome abnormalities. The meeting will emphasize phenotypic assessment with the perspective of possible molecular mechanisms.
The scientific sessions culminated with the establishment of six Working Groups. The working groups are: Molecular Genetics, Endocrinology and Metabolism, Neuro & Anatomical Imaging, The Senses, Cognitive Neuroscience, Social Neuroscience and Data Integration and Bioinformatics. The goal is to develop guidelines for the uniform, systematic assessment of individuals with chromosome abnormalities.
We have come together for this first-of-its-kind event because we share the vision that...
“Children born with chromosome abnormalities will have optimized and specific treatments so they can lead healthy and autonomous lives.”
This Congress brought together the individuals with chromosome abnormalities, their families, their genetic advocacy organizations and clinician scientists who are all working together to achieve this common vision. The goal is to understand the consequences of chromosome abnormalities on specific organs and tissues so that treatment regimes can be devised which are specific to each individual’s deletion or duplication.
There were two major goals for this inaugural meeting. The first goal was to strengthen and solidify the genetic advocacy community so they can maximize their support of research and for the affected families. The second goal was to create an interdisciplinary community of clinicians and scientists who will devise standardized evaluation tools for comprehensive phenotypic and genotypic evaluation of individuals with chromosome abnormalities. The meeting will emphasize phenotypic assessment with the perspective of possible molecular mechanisms.
The scientific sessions culminated with the establishment of six Working Groups. The working groups are: Molecular Genetics, Endocrinology and Metabolism, Neuro & Anatomical Imaging, The Senses, Cognitive Neuroscience, Social Neuroscience and Data Integration and Bioinformatics. The goal is to develop guidelines for the uniform, systematic assessment of individuals with chromosome abnormalities.