Shicheng Guo
@shihcheng.bsky.social
Senior Director, Translational Genetics and Data Science, Translational Medicine | Data Science | Computational Biology | Drug Discovery | Passionate about advancing genomics and biobank research through collaboration. Opinions are my own!
Maintaining expert-curated mappings for 6,000+ diseases is a massive effort. What governance or community mechanisms ensure data quality and update frequency, and how could industry partners like Arrowhead contribute to or benefit from this curation process?
November 7, 2025 at 4:56 PM
Maintaining expert-curated mappings for 6,000+ diseases is a massive effort. What governance or community mechanisms ensure data quality and update frequency, and how could industry partners like Arrowhead contribute to or benefit from this curation process?
Since ORPHAcodes are integrated into the European EHR Exchange Format, how might this interoperability extend to real-world data (RWD) analytics in the U.S. or global registries? Could this facilitate more systematic identification of rare disease patient cohorts for RNA-based therapy trials?
November 7, 2025 at 4:56 PM
Since ORPHAcodes are integrated into the European EHR Exchange Format, how might this interoperability extend to real-world data (RWD) analytics in the U.S. or global registries? Could this facilitate more systematic identification of rare disease patient cohorts for RNA-based therapy trials?
Does Orphanet currently enable quantification of “unmet needs” at the disease level — for example, diseases with known genetic etiology but no approved therapies — and if not, could this be a future direction to inform portfolio prioritization?
November 7, 2025 at 4:55 PM
Does Orphanet currently enable quantification of “unmet needs” at the disease level — for example, diseases with known genetic etiology but no approved therapies — and if not, could this be a future direction to inform portfolio prioritization?
Orphanet’s nomenclature supports mapping rare diseases across ICD-10, ICD-11, and SNOMED CT. From your experience, how easily can these standardized codes be linked with molecular or genomic databases such as ClinVar or OMIM to support target discovery for rare genetic disorders?
November 7, 2025 at 4:55 PM
Orphanet’s nomenclature supports mapping rare diseases across ICD-10, ICD-11, and SNOMED CT. From your experience, how easily can these standardized codes be linked with molecular or genomic databases such as ClinVar or OMIM to support target discovery for rare genetic disorders?