FACILITATING THE DIAGNOSIS OF ANGELMAN SYNDROME

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The Angelman Project is a comprehensive digital database of videos, text, and photographs, collected and designed to facilitate the diagnosis, treatment and education of individuals with Angelman Syndrome (AS) research, including genetics, neurology, and the study of language and behavior. Even with these advances, diagnosis and treatment are hampered by a lack of information on exiting Angelman patients. Current data on AS individuals is needed to illustrate the main features of their appearance, as well as the essential aspects of their behaviors and abilities. The comprehensive collection of data contained in The Angelman Project provides a resource for medical professionals, scientists, educators, and therapists. For example, physical therapists can observe models of patient therapy practiced in other parts of the world. Educators can use video footage of various inclusion settings to help develop and shape individualized education plans. Geneticists can examine the information from this database to find possible genotype/phenotype correlations. This database provides information to help make more timely diagnoses; offers information on therapies and treatments; and furnishes raw data that may inspire future AS research projects. PROPOSED COMMERCIAL APPLICATION: The intended market for this work includes all professionals working with Angelman syndrome patients pediatricians, internists and general practitioners, genetics counselors, neurologists, psychologists, physical therapists, & nurses. The work should be a valuable resource for researchers in genetics, neurology and other related areas. Finally, educators and education evaluations, and teachers working with AS individuals and others with related disorders, will find this work an excellent reference. Future commercial Phase III applications exist in the expansion of this project to include many other genetic disorders.