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Mapping Genome Presents a Complex Landscape of Mutation and Disease

Naval Parikh, MD

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A physician based in Boca Raton, Florida, Naval Parikh, MD, coordinates the activities of NAPA Research and helps ensure that an environment exists that is conducive to effective clinical trials. Patient-focused, Naval Parikh, MD, has an extensive knowledge of emerging internal medicine issues and topics.

One major influence on medical research is the Human Genome Project, which was completed 16 years ago with the promise of opening the doors to personalized medicine that relied on genetic makeup for making individual choices on assessing risk and designing appropriate treatment.
The reality that emerged has been more complicated than envisioned, with a University of Toronto research leader pointing to a situation in which a single gene being implicated in a single disease’s development is more likely to be an exception than a rule.
Genome-wide association studies (GWAS) that involve scanning patient genomes and comparing them to those of healthy populations reveal thousands of genetic variants, or mutations, that have higher prevalence in cases of disease. However, these changes can be difficult to identify, and involve combinations of minute genetic changes scattered throughout the genome. These cumulatively increase disease susceptibility among individuals.
With environmental effects and inherited genetic diversity further muddying the waters, scientists are far from identifying the exact physiological repercussions of genetic functions and interactions that lead to specific diseases.