SBIR-STTR Award

The Angelman Syndrome video project will address a deficit which now exists in the health care system regarding one genetic disorder thought to be rare. Two comprehensive discs in the CD-ROM and CDI formats will be produced which will show symptoms and behaviors of AS individuals, allowing interaction by the user. Subject will be videotaped in their own environments to maximize normal behavioral characteristics. A second linear documentary videotape will also be produced in the VHS format since VHS format is more widely available. It is hoped that this new inclusive format will be well-received in the medical community since interaction will be possible and may expand the knowledge base and diagnostic capabilities for disorder such as where physical features may be subtle and behavioral characteristics may be helpful in making the diagnosis. Potentially a commercial project to record other disorders in a similar manner may evolve.National Institute of Child Health and Human Development (NICHD)

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.

Thesaurus Terms:
computer assisted instruction, computer system design /evaluation, diagnosis design /evaluation, genetic disorder diagnosis, happy puppet syndrome, informatics, information system, interactive multimedia, mental disorder diagnosis biomedical resource, education evaluation /planning, optical data storage, therapy