Established in 2005 following recommendations from a NIAID-sponsored expert panel, the Human Leukocyte Antigen (HLA) Region Genomics Consortium is dedicated to exploring the genetic variations within the HLA region and their associations with immune-mediated diseases. In 2015, the consortium expanded its focus to include the Killer Immunoglobulin-like Receptor (KIR) gene family.
This program supports research into how genetic variations in the HLA and KIR regions influence susceptibility, protection, onset, progression, and severity of immune-mediated diseases with the goal of advancing therapeutic opportunities and improving disease screening. Given their crucial role in disease outcomes—from transplant rejection to allergic, autoimmune, neurological, infectious diseases, and cancer—the program aligns with research interests across both NIAID and the broader NIH community.
High-resolution HLA and KIR sequences generated by funded projects contribute to a growing data infrastructure, supporting future studies. The Consortium promotes the exchange of reagents and technologies, fostering collaboration across various disease areas and disciplines. This collaborative approach ensures continued progress in this challenging yet rewarding field, where common sequence variations may be linked to multiple diseases or specific variant combinations may influence particular disease outcomes.
Main Areas of Focus
- Identify novel associations with high resolution or validating previously described associations.
- Investigate the mechanisms underlying these associations and applying findings to develop risk assessment tools.
- Study HLA-KIR region gene combinations.
- Develop or refine sequencing technologies and analytical tools, including computational approaches, to improve identification, validation, or prediction of relative disease risk.
- Conduct mechanistic studies to explore the molecular consequences of specific polymorphisms within HLA and KIR genomic regions on disease phenotypes.
- Support collaborative research on the role of HLA region and KIR genes in immune-mediated disease susceptibility and progression.