Anuja Java, MD, Assistant Professor of Medicine, Division of Nephrology, will co-chair the newly established Clinical Genome Resource (ClinGen) Complement Gene Curation Expert Panel (GCEP).
ClinGen is an NIH-funded resource dedicated to building a central resource that defines the clinical relevance of genes and variants for use in precision medicine and research. ClinGen was founded in 2013 by the National Human Genome Research Institute and is a growing collaborative effort with over 1,700 contributors from more than 40 countries.
The GCEPs are teams of experts from a range of clinical specialties who focus on evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.
The Complement GCEP is part of the the ClinGen Kidney Disease Clinical Domain Working Groups, which aim to create a comprehensive, standardized knowledge base of genes and variants relevant to kidney genetic and genomic medicine. See here for a list of the other Kidney Disease GCEPs.
“This is a very exciting and a much-needed initiative. The field of complement and genetics in kidney disease is expanding at a fast pace and there’s a lot of confusion about what the different genes and variants mean. I am enthusiastically looking forward to working with the panel that has truly brought in complement experts from around the world.”
Anuja Java
Java, the Director of Kidney Transplant at the John Cochran VA Medical Center, is a renowned physician-scientist and expert in rare complement diseases and their involvement in kidney damage, including atypical hemolytic uremic syndrome (aHUS). Her latest publication “Clinicopathologic Implications of Complement Genetic Variants in Kidney Transplantation” was recently published in Frontiers of Medicine.
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See below for a short video introduction to ClinGen.