Human Genome Project

Anika Mirickis currently working for the National Human Genome Research Institute at NIH as part of a management team for a project called The Cancer Genome Atlas (TCGA). The Cancer Genome Atlas is a large-scale coordinated project employing a systematic approach to identify genomic changes in cancer. TCGA, currently in a pilot phase funded at $100 million, is co-funded and managed by NHGRI and NCI. The goals of the pilot project are to 1) assess the feasibility of large-scale genomic analyses on cancers, 2) evaluate emerging technologies which promise to greatly improve the capabilities and economics of comprehensive genome analysis, and 3) generate unprecedented catalogs of genomic alterations in three tumor types: glioblastoma multiforme (GBM), ovarian cystadenocarcinoma and lung squamous cell carcinoma. The TCGA research network, comprised of 10 genome analysis centers, a data coordination center, a biospecimen center, and numerous tissue source sites, has recently presented interim findings based on integrative analyses of multidimensional genomic data generated from 206 GBM cases. Briefly, discoveries included frequently mutated genes previously unknown to be altered significantly in GBM and the categorization of primary GBMs into four subtypes with distinct molecular signatures. Early findings in the TCGA pilot project already are demonstrating the high value of applying large-scale genomic approaches to tumor characterization. TCGA and other NHGRI-supported cancer genome projects are expected to greatly accelerate the pace of discovery of markers and therapeutic approaches for cancer.

Topic: The Human Genome Project, including background, methods and benefits – in particular, how the Human Genome Project paved the way for modern medicine and biotechnology. The presentation will also touch on how large-scale genomic projects are beginning to bring personalized medicine to healthcare (e.g. TCGA). Lastly, the presentation will also discuss the current “genomics revolution” in terms of next-generation sequencing technologies and the emergence of new ethical, legal and social implications of genomic research.

TCGA Publication (Supplemental Reading; NOT Required): The Cancer Genome Atlas (TCGA) Research Network. Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature. 2008 Oct 23;455(7216):1061-8. Epub 2008 Sep 4. Cited in PubMed; PMID 18772890.