Immunogenetics experts at The Children's Hospital of Philadelphia (CHOP) have developed a unique laboratory test to characterize the genes that encode HLA molecules. The test relies on faster, more comprehensive gene sequencing technology to type human leukocyte antigens (HLAs)--complex, highly variable proteins on cell surfaces that are essential to immune function.
The new test may improve transplantation outcomes through a more refined assessment of donor compatibility, and will expedite the donor selection process from bone marrow registries. It also provides an advanced tool for research in immunological diseases, infectious diseases, and pharmacogenomicsthe field that studies the influence of genetic variations on drug efficacy and toxicity.
"This new test addresses a sixty-year-old problem," said Dimitri Monos, Ph.D., director of the Immunogenetics Laboratory in the Division of Genomic Diagnostics at The Children's Hospital of Philadelphia. "Since the discovery of HLAs in the early 1950s, it has been a challenge to accurately and thoroughly characterize HLA gene sequences. We have now used next-generation sequencing tools to significantly advance HLA typing."
CHOP is the first hospital anywhere to offer this new comprehensive HLA-typing test, based on extensive research by Monos and colleagues. "This is a new, disruptive technology, with the potential to transform research and clinical practice, in transplantation and other fields," said Robert Doms, M.D., Ph.D., pathologist-in-chief at CHOP.
HLA genes are the most complex gene family known in the entire human genome. Gene sequences for HLAs are extremely polymorphic--highly variable, to a degree not adequately captured by conventional typing tests. Current tests often provide ambiguous and limited results, by sequencing only segments of HLA genes and failing to distinguish among different alleles suggested by a given sequence. In addition, preliminary testing often m
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Children's Hospital of Philadelphia