Researchers work to organize Phenome Project
By Rachel Makabi
May 5, 2003 9:00 p.m.
Scientists worked furiously in the five years it took to map the
Human Genome. Fueled by technological advances and competitive
debates, the study of human genes reached unparalleled heights.
But once the genome project was complete and the excitement
settled down, many scientists began to question how they would
apply the new information to the study of diseases.
In the eyes of some UCLA researchers, the completion of the
Human Genome Project was a stepping stone in this process.
The next step was to catalog the human phenome ““ the
physical expression of the genes on the body.
In order to do this, UCLA researchers Nelson Freimer and Chiara
Sabatti have proposed the creation of an international database to
catalog the human phenome, an endeavor they have dubbed “The
Human Phenome Project.”
The main goal of the Phenome Project is to understand, prevent,
and treat human diseases.
“All this effort has been expended to develop information
for our genome, but there really has not been as much effort into
the study of the diseases themselves,” said Freimer who is
director of the Center for Neurobehavioral Genetics at the
Neuropsychiatric Institute.
Now that scientists can search the genomes of millions of
people, they can search for the genetic variations that cause
diseases.
But instead of only looking at a person’s genetic makeup,
the Phenome Project will also take a person’s environment
into consideration.
For example, some people may be genetically predisposed to be
obese. But studying the genetic conditions alone will not help
treat a patient. Researchers would have to look at other external
environmental factors like the person’s diet and eating
habits.
The Phenome Project will probably affect complex diseases, like
heart disease, cancer and diabetes that are also triggered by
multiple genetic and environmental factors.
Several researchers have already played with the idea of looking
at large populations to draw conclusions.
One company in Iceland has obtained access to the Icelandic
health system and is looking at tens of thousands of individuals,
comparing their genetic structures to diseases. There is even a
massive Mouse Phenome Project already underway by the Jackson
Laboratory in Maine.
But many of the thousands of independent investigators working
on the human phenome have not communicated with one another. The
Human Phenome Project would allow for a massive compilation of all
these sources.
“I do agree with the concept,” said Jake Lusis, a
professor in the genetics department who did some work with the
Human Genome Project. “Looking at large numbers of people for
various diseases and comparing that with their genetic makeup is
likely to tell us a lot about common diseases.”
The biggest challenge now is organizing such a project ““
one that Freimer doesn’t envision to be completed for another
10 to 20 years.
One of the first steps is to standardize the way researchers
measure phenotypes. This might be difficult because people in
different countries and different fields have contrasting methods
of collecting and organizing the data.
“You have to get people to agree, and it’s not easy
to get people to agree,” Freimer said.
But cooperation will be key to getting the project underway.
Because the idea is so new, it does not have any major
contributors yet ““ but researchers hope that they can get
people from government agencies, foundations and the pharmaceutical
industries involved.
Many people attribute the rapid completion of the Human Genome
Project to the high level of competition between the private and
public sectors, who found themselves in a race to finish the genome
first.
With so many people working on different methods simultaneously,
it made it easier for researchers to hone down on the best method
to map the genome.
But Freimer said he doesn’t think this rivalry and
competition would help facilitate the completion of the Human
Phenome Project.
With a project as large as databasing the human phenome,
standard methods of collecting and sharing data across all fields
and countries must be set.
One logical alliance would be with pharmaceutical companies, who
already have a lot of information to contribute to the Human
Phenome Project. Many of these companies have already done
extensive research looking into the causes and treatments of
diseases.
“I think it would be a really great opportunity for them
to show that they are able to work together with the public sector
in a non-competitive way,” Freimer said.
