1st Place

 

Elan Filler

Palos Verdes High School

Teacher: Marie Kuhn

 

 

The Human Genome Project is one of the greatest accomplishments in biomedical science and provides the groundwork for exploring the genetic basis of human disease. This seminal work has enabled scientists to discover disease susceptibility genes, identify gene variants that predict drug response and toxicity, unravel cancer genetics, and provide insight into the patterns of human migration.

Using the normal human genome as a guide, scientists have also sequenced the genomes of many different cancers to identify their genetic abnormalities. Over the past decade, more than 77 oncogenes that are amplified in cancer cells have been discovered (Santarius et al., 2010).  Furthermore, point mutations, which cause cancer, have been identified in specific genes such as EGFR, HER2, and BRAF (Stratton et al., 2009). For example, 60% of melanomas contain a point mutation in the BRAF gene, which results in a single amino acid change, from valine to glutamic acid at position 600. Targeting this abnormal B-Raf protein, the drug vemurafenib was approved by the FDA in 2011 for the treatment of melanoma. This revolutionary treatment has greatly prolonged survival of these patients and could not have been developed without the Human Genome Project. Moreover, genome sequencing has revealed that the mutated BRAF gene occurs in thyroid cancer, hairy cell leukemia, and some lung cancers. Thus, it is possible that vemurafenib may also be useful for treatment of these malignancies (Bollag et al., 2012).