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Duchenne muscular dystrophy (DMD) is a progressive childhood onset neuromuscular disease with no known cure. There is extensive literature about the impact of a diagnosis on the psychosocial well‐being of unaffected siblings, with a need for additional research to provide information about optimal ways to disclose this information to unaffected children. We sought to explore the parental experiences of disclosing a sibling's diagnosis of DMD to unaffected children who were age 8–17 years old either at the time of their sibling's diagnosis or presently. Parents were recruited through Maryland Muscular Dystrophy Association, Parent Project Muscular Dystrophy, and Cincinnati Children's Hospital Medical Center Neuromuscular Center. An interview guide, rooted in family communication, was created to incorporate themes and topics found in literature specific to DMD and disclosure to unaffected siblings. We qualitatively explored these experiences through semi‐structured interviews and performed thematic analysis using a coding system to identify overarching themes and subthemes. Several main themes regarding challenges to the disclosure process emerged. We identified the following themes in procedural aspects of disclosure: lack of provider support, importance of the DMD community, and open and gradual timeline of disclosure. Under emotional experiences, we identified these themes: overwhelming nature, elements of surprise disclosure, and balancing parental and sibling needs. Most questions from unaffected siblings related to procedural elements of care such as treatments and equipment. Additional unanticipated themes emerged that may contribute to the knowledge of family culture surrounding DMD: the complex role of Facebook as a family resource, deferring carrier testing for siblings, and inclusion of DMD in school projects. While the process of disclosure is complicated by a variety of factors such as lack of provider support and overwhelming emotional burden, families highlight the importance of open communication in discussion with unaffected children. [ABSTRACT FROM AUTHOR]

The Human Disease Ontology (DO) (www.disease-ontology.org) database, has significantly expanded the disease content and enhanced our userbase and website since the DO's 2018 Nucleic Acids Research DATABASE issue paper. Conservatively, based on available resource statistics, terms from the DO have been annotated to over 1.5 million biomedical data elements and citations, a 10× increase in the past 5 years. The DO, funded as a NHGRI Genomic Resource, plays a key role in disease knowledge organization, representation, and standardization, serving as a reference framework for multiscale biomedical data integration and analysis across thousands of clinical, biomedical and computational research projects and genomic resources around the world. This update reports on the addition of 1,793 new disease terms, a 14% increase of textual definitions and the integration of 22 137 new SubClassOf axioms defining disease to disease connections representing the DO's complex disease classification. The DO's updated website provides multifaceted etiology searching, enhanced documentation and educational resources., (© The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research.)