Baylor sequencing scientists help usher in new era of medicine

"Completion of the human genome has significantly impacted scientific research here and around the world in the fight against human disease," said Dr. Richard A. Gibbs, Baylor's HGSC director. Gibbs, contributor to two scientific articles, "Initial sequencing and analysis of the human genome" and "A physical map of the human genome," that appear in the Feb. 15 issue of the journal Nature, attended the news connference held today in Washington, D.C.

"These papers are true scientific landmarks," Gibbs said. "It is humbling to have such a birds-eye view of the entire human genetic composition. The scope of the discoveries, particularly the unexpected findings, make it all worthwhile."

For example, humans might have 30-35,000 genes in their genome. Before the sequencing of the human genome, gene estimates were over 120,000. Scientists will determine the precise number of genes after the remaining gaps are filled. "It's like gazing out from the space station and seeing, for the first time, the entire Earth before you," Gibbs said.

The current genome is a working draft that allows scientists to recognize the genes that make up human DNA. The Nature articles describe gene families and other features of the human genome that provide insights and directions for research into human evolution, as well as the causes of diseases. However, the improved accuracy that will come with the "finished" sequence, to be completed in 2003, will make it the gold-standard reference.

"This new sequence data will ultimately give us a better understanding of how genes and proteins work in the human body," said George M. Weinstock, HGSC co-director. "We have the genetic blueprint for a human -- a rather large puzzle or picture of the body. Now we have to put the puzzle together to gain more information about how it all works so we can identify mutations that cause hereditary diseases."

Baylor's HGSC sequenced the human chromosomes 3, 12 and a portion of chromosome X, revealing the structure and locations of hundreds of disease genes. During the next five years, half of the human genes correlated with disease will be identified.

"This will lead to remarkable advancements in prognostics and diagnostics," said Dr. Steven E. Scherer, director of mapping at HGSC.  "Longer-term benefits will be in drug development and the discovery of new and vastly improved therapeutic approaches."

Since the initial announcement on June 26, 2000, major accomplishments at the HGSC include the following:

• In conjunction with Albert Einstein College of Medicine in New York and The University of Texas Health Science Center at San Antonio in Texas, the HGSC is responsible for sequencing human chromosomes 3, 12, and a portion of X, and coordinating efforts by other centers in these regions. In work led by Scherer, John Bouck, and Kim Worley, the HGSC played a major role in developing software to address data contamination for the entire sequencing consortium, in integration and curation of mapping to ensure high data quality for the final Nature publication, and in analysis of the sequence as part of the Hard Core Analysis Group, focusing on analysis of repeats and CpG islands.
   
• The HGSC is actively engaged in finishing the human genome as well as sequencing genomes of model organisms. These include genomes of the rat, the mouse, the fruit fly Drosophila melanogaster, the slime mold Dictyostelium discoideum, and a number of microorganisms that cause infectious diseases. In addition, the HGSC is sequencing full-length human cDNAs, another key to understanding gene structure and gene products of the human genome.
   
• HGSC now occupies approximately 30,000 square feet of state-of-the-art research space at Baylor, located in the heart of the Texas Medical Center in Houston, and currently employs more than 220 staff, scientists, and programmers.