Curated Disease Entity

The Curated Disease Entity (CDE) WG will focus on harmonizing curation products related to monogenic diseases within ClinGen’s curation activities (gene/variant/actionability/dosage), as well as between ClinGen and other entities (e.g., Mondo, OMIM).  While it is not expected that there will be universal agreement on the identity of monogenic disease entities, or what to call them, this effort will bring increased consistency and a shared understanding of how the monogenic disease entities are defined and named within ClinGen and by outside groups, including the development of a ClinGen preferred disease name (i.e. ClinGen_Label) for use in Mondo.

This new working group consolidates two prior working groups, the Lumping and Splitting Working Group (LSWG) and the Disease Naming Advisory Committee (DNAC).

To solicit help from the Curated Disease Entity Working Group, please email diseasenaming@clinicalgenome.org 

Subgroups Documents Membership

It is of utmost importance for the ClinGen consortium to address the curation and evaluation of monogenic disease entities and clinically relevant variants with a systematic, harmonized approach for defining the monogenic disease and that this approach be consistent across ClinGen’s curations domains (i.e., gene-disease validity, variant pathogenicity, dosage sensitivity, and actionability).  This will involve providing ongoing guidance and recommendations for lumping and splitting and disease naming, including the development of a consistent ClinGen preferred dsiease name. It will also involved working directly with ClinGen curation groups to ensure consistency and simplify processes for harmonizing disease naming and working with external groups to ensure accurate organization and interoperability.  Therefore, the CDE WG proposes to review decisions made by GCEPs and engage in discussions with groups as needed to determine the rationale behind the lumping/splitting decisions.  There is also likely to be a need for updating and versioning the guidance provided to expert panels.

 

Initial Goals:

Goal 1: Act as a consulting resource for ClinGen groups with disease naming and defining issues

Goal 2: Harmonize monogenic disease entity delineation and naming across ClinGen groups

Goal 3: Develop a ClinGen representation of monogenic disease entities in Mondo (Monarch Disease Ontology)

  • Creating a consistent ClinGen preferred disease name (e.g., ClinGen_Label) in Mondo

 

 

To accomplish these goals are group is divided into strategic, consulting, and technical taskforces.

 

If you have any questions on lumping and splitting (precuration), disease naming, of harmonization of curated disease entities, please email diseasenaming@clinicalgenome.org 

Chairs
Courtney Thaxton, PhD
Coordinators
Please contact a coordinator if you have questions.
Emma Owens, BS
emma_owens@med.unc.edu

Subgroups

  • Disease Naming Advisory Committee

    The Disease Naming Advisory Committee (DNAC) are focused on providing ClinGen expert panels and working groups with guidance (or points to consider) for defining the curated disease entity for making assertions of gene-disease validity, actionability and variant pathogenicity

    About this group
  • Lumping and Splitting

    The Lumping and Splitting Working Group provides guidance for defining and refining disease entities for gene-disease classifications and partners with nosological and ontological authorities for the coordination of disease entity categorization and classification.

    About this group

Documents

Working Group Membership

Membership spans many fields, including genetics, medical, academia, and industry.

Chairs

Coordinators