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One Step Closer to Personalized Medicine
CHORI Scientist Receives Funding for New Applied Genomics Lab

"Personalized medicine is the question of what your genomic background is and how does it relate to known diseases, and how can we tailor treatments specific to you."

As part of CHORI’s overall commitment to improving global health, one patient at a time, CHORI is at the forefront of a new era of personalized medicine, in which researchers hope to be able to provide patients with treatments that target them as individuals with a specific genetic history. The latest of many CHORI efforts to help make personalized medicine a reality in the future, CHORI scientist, Elizabeth Trachtenberg, PhD, has just received funding to expand her medical genomics laboratory under the auspices of Children’s Pathology department.

“Every time you go to the doctor, you basically receive personalized medicine. They take a history of your medical back ground, they find out what allergies you know you have, they find out whether you have a family history of certain conditions – that is personalized treatment,” explains Dr. Trachtenberg.

“Now what it means from a molecular or genetic standpoint is another question.”

With the advent of the Human Genome Project, which set out to sequence the entire set of genes of one individual and was not completed until 2003, there has been a greater understanding of the how genes influence the variability between different individuals, from how they respond to medications to why some people get sick while others don't.

"Even people with the same condition might have different mutations that got them there," says Dr. Trachtenberg. "When you start looking at the differences at the DNA level, you can see that certain populations can be stratified into different groups, with treatments specific to those populations who will actually respond to them."

Of course, while we can already tailor some medications to individuals based on knowing whether their parents had heart disease, there is still a long way to go before widespread personalized medicine can be achieved.

"A lot of research and drug development still needs to happen, and we still need to expand what we know about what genes are causing which problems," Dr. Trachtenberg says.

The clinical genomics laboratory is a step in the right direction and will allow Dr. Trachtenberg to provide additional diagnostic services related to personalized medicine. The star of the new center is the Roche Genome Sequencer (GS) FLX 454, which Dr. Trachtenberg refers to as a deep genomic, high throughput sequencer. What this means in practical terms is that using the highly sophisticated and streamlined machine can accomplish the same kind of analyses that was done for the Human Genome Project in just 1 year instead of 13, and at a fraction of the cost.
"It will allow us to test more patients and more genes all at the same time. It allows us to investigate extremely complicated clusters of genes one molecule at a time."
"This is extremely important in order to be able to specify exactly which genes are causing problems," says Dr. Trachtenberg.

Dr. Trachtenberg is planning to bring in new microarray technology as well, which will allow an entire genome to be analyzed at once, providing the opportunity to screen for large changes. The portions of the gene with the microarray technology highlights could then be analyzed with the Roche GS FLX instrument to identify the more subtle genetic differences at play.

"The technology is complementary, allowing us to look at whole genomes, clusters of genes or individual molecules, all at once and faster than anyone ever thought possible," Dr. Trachtenberg says.
The Applied Genomics Lab will also play a significant role in CHORI's Center for Genetics, assisting in a variety of different research projects for different CHORI scientists. In her own research work, Dr. Trachtenberg hopes to use the new technology to help answer questions about the genes involved in stem cell transplantation outcome, autoimmune disorders and disease susceptibility.


Tuesday, May 17, 2011 8:19 AM

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