Identifies genetic risk in skin diseases, suggesting new approaches for effective treatments.
The Skin Genetics Consortium (SGC, skingeneticsconsortium.org) is an international collaboration using human genetic research to advance the practice of dermatology.Genetic research has advanced our understanding of disease biology and highlights targets for therapeutic intervention, creating opportunities for more precise and effective treatments.The success of human genetic research is predicated on sample size, necessitating collaborations to meta-analyze data from tens of thousands of research participants.Thus, we are building an inclusive community of stakeholders and infrastructure to facilitate genetic research and knowledge dissemination.To initiate this endeavour, we are leveraging biobanks to systematically resolve the genetic architecture of rare and common skin disease.In our initial phase, we have engaged >20 biobanks worldwide that capture data for >4 million ancestrally diverse participants.We have systematically identified 100 skin diseases that are captured by ICD-10 codes and mapped these to other disease ontologies.We have developed workflows to streamline data upload, harmonization, and analysis.We have created the Skin Knowledge Portal, a platform for online, openaccess, dissemination and visualization of results (skin.hugeamp.org).In our next phase, collaborators will conduct GWAS for each disease stratified by gender and ancestry and the SGC will meta-analyze and disseminate results.Future goals include integrating results across diseases to build a comprehensive map of skin health regulators and integrating results with singleand multi-omic data.By fostering new collaborations across stakeholders and offering statistical resources and expertise to a global research community, the SGC aims to become an inclusive driving force for innovation in the management of skin diseases.
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Gould et al. (2026) studied this question.
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