(mentions CMT) Genetic Research - UM center seeks diseases' origins

[Guest guest]

Genetic Research - UM center seeks diseases' origins

The second human genomics facility to open in the United States

makes its home at the University of Miami.

http://www.miamiherald.com/519/story/323349.html

Drs. Vance and Margaret Pericak-Vance are co-directors of

the genomics facility. They were lured to the University of Miami

from Duke.

Its purpose: changing the way medicine works.

''The future of medicine depends entirely on projects from the field

of genomics,'' or the study of all the genes in humans, medical

school dean Dr. Pascal Goldschmidt said at Tuesday's opening.

The University of Miami institute is only the second of its kind in

the United States. The Broad Institute of Harvard University and

Massachusetts Institute of Technology was founded in 2003. Genomic

research is part of the focus at Scripps Institute at Florida

Atlantic University in Boca Raton, where 230 researchers are looking

at discovering new drugs.

The UM genomics institute will focus on the genetic origins of

multiple sclerosis, age-related macular degeneration, amyotrophic

lateral sclerosis (Lou Gehrig's disease), tuberculosis and Charcot-

Marie-Tooth disease, as well as cardiovascular disease,

neurodevelopmental disorders and cancer.

The Human Genome Project, completed in 2003, described all human

genes, opening doors to many discoveries. ''We finally realized what

makes us human,'' Goldschmidt said. ``We're 99.9 percent identical.

But that 0.1 percent is actually a big deal for many reasons.''

In that 0.1 percent are the clues to the susceptibility to illnesses

ranging from cancer to diabetes.

''If we can identify early enough the sets of genes that drive the

disease, we can do something about it,'' Goldschmidt said. ``Genomic

research will change the way we practice medicine by translating the

new knowledge of the Human Genome Project into findings that will

help our patients survive some of the most common deadly diseases,

through very targeted, personalized treatments. Ultimately, our

discoveries will allow us to prevent many of these diseases

altogether.''

The institute is getting up and running in three buildings west of

Metrozoo. Within the 20,000 square feet, 30 researchers are working

in state-of-the-art labs. The University of Miami is constructing a

new building at the UM medical school campus north of downtown,

scheduled to open late next year. Another 40 scientists soon will be

added, now that the highly sophisticated machines are up and

running, with the full complement of researchers reaching 100,

possibly 300 within five years.

Mel Rothberg, chair of the Southeast chapter of BioFlorida, a

private organization that works to bring new research enterprises to

the state, said UM's new institute is bringing in a ''reasonable''

number of new jobs. But the real economic impact for the region ''is

the resultant work that comes from their research that could lead to

using the technology and building additional businesses locally,''

he said.

The institute, established in January, is led by the husband-wife

team of Margaret Pericak-Vance and Dr. Jeffery Vance, who were

recruited in 2006 by Goldschmidt from Duke University, along with 20

fellow researchers.

''When you recruit an English professor, you find a desk and move

his books,'' said UM President Donna Shalala. ``When you recruit

scientists, you've got to have the space ready. We needed swing

space so there's a seamlessness in their work. We needed to do this

as quickly as possible.''

The buildings that once housed library archives now are home to

complex robots that soon will be able to measure 200 million genetic

variations in a week. When looking for clues to the genetic origins

of disease, scientists compare the genes of lots of people to hunt

for common genetic quirks, so vast amounts of data are needed.

Pericak-Vance recently was among researchers from five universities

who discovered a gene linked to multiple sclerosis.

''We were able to look at thousands of individuals and millions of

variations in the genes,'' she said, stressing the collaborative

nature of the research.

''Nineteen years ago, we were excited to measure 20 variations in a

week,'' said Jeffery Vance. Some of the institute's new equipment

can run thousands of DNA sequences at once, producing terabytes --

each is a thousand billion bytes -- of data. Little wonder that

Shalala said, ``We're building a research powerhouse here.''

The Vances themselves are powerhouses among genetic researchers.

Pericak-Vance, who is the director of the institute, co-led the MS

research while running Duke's Center for Human Genetics. She also

pioneered a method of disease gene mapping to find a susceptibility

gene for Alzheimer's disease. She discovered the gene that

determines an individual's susceptibility to age-related macular

degeneration, which is influenced by the environment.

She was among Newsweek magazine's 100 people to watch in 1997 and is

a founding fellow of the American College of Medical Genetics.

Vance, who is chair of the Division of Human Genetics, is an expert

in Parkinson's disease and Charcot-Marie-Tooth disease, a

neurological disorder similar to muscular dystrophy.

He heads an effort to find a suite of genetic contributors to

Parkinson's (about half of the genes have been identified so far)

and three different muscular dystrophies. And he designed clinical,

technical and mathematical methods to study complex diseases.

''We believe genomic research will change the course of medicine,

and the University of Miami will be the leader,'' Vance said.

``But we must first identify and explain the genetic contributions

to human disease.''