NIH Research Festival Features Chromosome Biology
Dr. Collins, who directs the National Human Genome Research Institute, told the story to illustrate what life was like for gene hunters before the human genome sequence became available a few years ago. Researchers looked for gene variants involved in common diseases in only a fraction of the genome - because that's all they could see.
The human genome has now been "lit up" and researchers can search for genetic factors in a long list of human diseases without having to have a good guess or hunch about where to look, noted Dr. Collins.
"There are consequences of this revolution for your own research," he told a capacity crowd during the festival's opening plenary session on September 25 in Masur Auditorium on the NIH campus. Many in the audience would present their research in dozens of lectures and hundreds of poster presentations over the next 4 days.
The agenda covered the range of biomedical research and diseases being studied at the 27 NIH institutes and centers. Many talks and posters discussed the mechanics of genomes and chromosomes in health and disease. RNA was a popular topic, and so was cancer.
The plenary session, "Chromosomes in Modern Biology and Medicine," featured two speakers from NCI's Center for Cancer Research (CCR). Dr. Shiv Grewal discussed heterochromatin, a chromosome structure that packages DNA, and its role in regulating a variety of activities in the genome. Dr. Thomas Ried talked about cancer as a disease of the chromosomes.
A videocast of "Chromosomes in Modern Biology and Medicine" is available.
One of the lighter moments of the meeting came when Dr. Ried described an embarrassing period in the history of chromosome research. In the 1950s, after researchers could finally see that humans have 46 chromosomes rather than 48, as was the accepted belief, it took another 4 years before the truth was accepted.
The reason, Dr. Ried told his audience of mostly young researchers, was that 48 chromosomes had been established as dogma by individuals who were now department chairs and university presidents. The young cytogeneticists were reluctant to challenge the dogma, even though they had counted the 46 chromosomes for themselves.
"There's a lesson to be learned here," Dr. Ried added. "You should believe what you see and challenge your mentor."
Later that day, in a symposium on genetic variation and common diseases, Dr. Stephen Chanock of NCI's Division of Cancer Epidemiology and Genetics (DCEG) related some lessons from the Cancer Genetic Markers of Susceptibility (CGEMS) program.
"Replication, replication, replication," Dr. Chanock said, referring to the need to validate initial results from genome-wide association studies and avoid false positives. He also stressed that very large studies will be needed to detect variants involved in diseases such as breast and prostate cancers.
In the world of doing genome-wide association studies, bigger is always preferred in order to maximize the power to detect variants, according to Dr. Chanock, who directs the NCI Core Genotyping Facility and heads the newly formed Laboratory of Translational Genomics in DCEG.
In conjunction with the research festival, the NIH Office of Intramural Training and Education and the Office of Research on Women's Health sponsored an annual job fair for NIH postdoctoral, research, and clinical fellows. A list of exhibitors and more information, including a virtual job fair, is available here.
On the first day, Dr. Michael Gottesman, deputy director for intramural research at NIH, reviewed the history of the NIH festival, which was celebrating its 20th anniversary (the festival began in 1986, but it was not held the following year).
The festival was in part the vision of Dr. Abner L. Notkins of the National Institute of Dental and Craniofacial Research. Dr. Notkins and others had recognized that scientists from across the NIH would benefit from coming together and sharing ideas. The organizers also wanted the festival to be a place where young investigators and mid-career scientists could present research.
NIH has changed considerably since 1986, but it remains "the best place to do long-term, high-risk biomedical research in the laboratory or the clinic," Dr. Gottesman said. "We still need to do more to enhance research across the institutes," he added.
—Edward R. Winstead