title: The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program's Experience Developing Custom Software to Support Research for Complex-Disease Families.
abstract: The Undiagnosed Diseases Program (UDP) was started in 2008 with the goals of making diagnoses and facilitating related translational research. The individuals and families seen by the UDP are often unique and medically complex. Approximately 40% of UDP cases are pediatric. The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS) was designed to create a collaborative workspace for researchers, clinicians and families. We describe our progress in developing the system to date, focusing on design rationale, challenges and issues that are likely to be common in the development of similar systems in the future.
authors.affiliation: Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA. jessica.guzman@nih.gov.
authors.forename: Jessica
authors.initials: J
authors.lastname: Guzman
authors.affiliation: Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA. elizabeth.lee3@nih.gov.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Lee
authors.affiliation: Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA. draperd@mail.nih.gov.
authors.forename: David
authors.initials: D
authors.lastname: Draper
authors.affiliation: Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA. zaheer.valivullah@nih.gov.
authors.forename: Zaheer
authors.initials: Z
authors.lastname: Valivullah
authors.affiliation: Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA. guoyun.yu@nih.gov.
authors.forename: Guoyun
authors.initials: G
authors.lastname: Yu
authors.affiliation: National Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA. sincanm@mail.nih.gov.
authors.forename: Murat
authors.initials: M
authors.lastname: Sincan
authors.affiliation: Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA. gahlw@helix.nih.gov.|National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. gahlw@helix.nih.gov.
authors.forename: William A
authors.initials: WA
authors.lastname: Gahl
authors.affiliation: Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA. david.adams@nih.gov.|National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. david.adams@nih.gov.
authors.forename: David R
authors.initials: DR
authors.lastname: Adams
keywords: UDPICS; Undiagnosed Diseases Network; Undiagnosed Diseases Program; collaboration software; informatics; rare disease