Abstract
BackgroundChromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a rare disorder caused by duplications of chromosome 15q11.2-q13.1, resulting in a wide range of developmental disabilities in affected individuals. The Dup15q Alliance is an organization that provides family support and promotes research to improve the quality of life of patients living with Dup15q syndrome. Because of the low prevalence of this condition, the establishment of a single research repository would have been difficult and more time consuming without collaboration across multiple institutions.ObjectiveThe goal of this project is to establish a national deidentified database with clinical and survey information on individuals diagnosed with Dup15q syndrome.MethodsThe development of a multiclinic site repository for clinical and survey data on individuals with Dup15q syndrome was initiated and supported by the Dup15q Alliance. Using collaborative workflows, communication protocols, and stakeholder engagement tools, a comprehensive database of patient-centered information was built.ResultsWe successfully established a self-report populating, centralized repository for Dup15q syndrome research. This repository also resulted in the development of standardized instruments that can be used for other studies relating to developmental disorders. By standardizing the data collection instruments, it allows us integrate our data with other national databases, such as the National Database for Autism Research. A substantial portion of the data collected from the questionnaires was facilitated through direct engagement of participants and their families. This allowed for a more complete set of information to be collected with a minimal turnaround time.ConclusionsWe developed a repository that can efficiently be mined for shared clinical phenotypes observed at multiple clinic sites and used as a springboard for future clinical and basic research studies.
Highlights
Background and SignificanceDuplications of the proximal arm of chromosome 15q11.2-q13.1 result in the genetic condition Duplication 15q syndrome (Dup15q syndrome)
We successfully established a self-report populating, centralized repository for Dup15q syndrome research. This repository resulted in the development of standardized instruments that can be used for other studies relating to developmental disorders
By standardizing the data collection instruments, it allows us integrate our data with other national databases, such as the National Database for Autism Research
Summary
Background and SignificanceDuplications of the proximal arm of chromosome 15q11.2-q13.1 result in the genetic condition Duplication 15q syndrome (Dup15q syndrome). Duplications can be either interstitial (3 copies) or isodicentric (4 copies). The Dup15q Alliance consists of a 12-member Board of Directors, a Professional Advisory Board staffed by clinical and research professionals, several organizational committees, individuals and families living with Dup15q syndrome, and community volunteers [3]. As a result of this initiative, a collaboration of 5 Dup15q syndrome clinics has led to the development of a central data repository to support current and future research. Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a rare disorder caused by duplications of chromosome 15q11.2-q13.1, resulting in a wide range of developmental disabilities in affected individuals. The Dup15q Alliance is an organization that provides family support and promotes research to improve the quality of life of patients living with Dup15q syndrome. Because of the low prevalence of this condition, the establishment of a single research repository would have been difficult and more time consuming without collaboration across multiple institutions
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