Human Genomics - Introduction

Probing disease-related genome variations to personalize medicine

A bold new era of personalized medicine is within reach as a result of advances in human genomics. Identifying patterns of genetic variation will be crucial in helping physicians diagnose and treat diseases - even before symptoms appear.

The IGS Human Genetic Variation group is helping catalog the differences in DNA sequence among individuals to better understand the relationship among genes, physical traits and disease. Those projects have special relevance to cancer research.

Instead of the typical focus on small sequence differences (SNPs), IGS scientists have developed new experimental approaches to identify and study alternative forms of genetic variation - such as insertions and deletions (INDELs) and transponson insertions - that are relatively unexplored.

The IGS Human Genetic Variation group is helping catalog the differences in DNA sequence among individuals to better understand the relationship among genes, physical traits and disease.

Such small additions and subtractions are common in the human genome and can impact a person's susceptibility to disease. IGS researchers are mapping such variations, examining insertion patterns in human populations, and identifying differences caused by transposable genetic elements.

The ultimate goal of such research is to "crack the code" and fully understand how a person's genetic variation affects health. At that point, doctors could use sequence data to predict a person's susceptibility to diseases and to define other traits.

As part of that quest, IGS scientists are helping find the genomic fingerprints of cancer, a term that encompasses more than 100 diseases - with disparate causes and risk factors - that cause nearly 15% of all deaths. Every form of cancer results from alterations (mutations) in the genome of cancerous cells.

Many mutated cancer genes have been identified, but genomics now offers new tools to find the causes and develop better treatments for cancers. The sequence data is helping researchers understand the cellular processes and mechanisms of cancer. Ultimately, determining the genetic makeup of a person's cancer will help physicians choose the most effective therapy for that individual.

As part of their research, IGS scientists are using cutting-edge sequencing and bioinformatics techniques to pinpoint chromosomal rearrangements and gene expression profiles of cancerous cells. The goal is to identify the genes which are abnormally active or silenced compared to normal cells. That, in turn, will help scientists target the most important genes involved in various forms of cancer.

In collaboration with the University of Maryland Greenebaum Cancer Center, IGS plans to apply these techniques to study cancer health disparities in populations.