Findings Published In November 23 Issue Of The Journal Nature Present New Map Of The Human Genome

WHITE PLAINS, N.Y., Nov. 28 /PRNewswire/ -- An international consortium of researchers has determined that large genetic abnormalities can be found in healthy individuals and can apparently contribute to susceptibilities to various human diseases, including cancer.

The team has generated the first catalogue of these abnormalities -- 3,000 so far -- including both duplications and deletions of large DNA segments. These large-scale changes are collectively known as copy number variants (CNVs) since they alter the copy number for each affected gene from the normal two copies, one on each of two matched chromosomes.

The work of one of the lead researchers of the consortium, Charles Lee, Ph.D, of Brigham and Women's Hospital and Harvard Medical School in Boston, has been funded by The Leukemia & Lymphoma Society. In addition to Dr. Lee and his laboratory, others in the consortium include researchers at The Hospital for Sick Children in Toronto, Canada, The Wellcome Trust Sanger Institute in Cambridge, England, The University of Tokyo, Japan, and Affymetrix Inc.

These findings, to be published tomorrow in a series of prominent scientific journals, including Nature, are significant because it was already known that small changes in the DNA sequence of genes can predispose individuals to cancer by damaging critical genes that keep cells functioning properly. The team's recent findings show that much bigger changes -- these CNVs -- are widespread and can act upon some of the very same genes.

Of the approximately 3,000 genes the team identified that varied in copy number, 285 were already known to be associated with human diseases, including AIDS, inflammatory bowel disease, lupus, cataracts, arterial disease and schizophrenia. Dr. Lee's ongoing studies suggest that CNVs can also predispose and eventually cause blood cancers too.

"Many examples of diseases resulting from changes in copy number are emerging," he said. "Our CNV map can be combined with preexisting data to provide a deeper understanding of genetic variation, which has immediate implications to disease association studies, genetic diagnostic testing and cancer research."

The full scope of the researchers' findings were published Nov. 23, 2006 in the journals Nature, Nature Genetics and Genome Research.

Professor James Lupski, vice chair, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, commented that the findings were dramatic. "I believe this paper will change forever the field of human genetics," he said.

"This new recognition of the widespread presence of CNVs is likely to help decipher a mutation process that commonly impacts the human genome to produce cancers and other diseases," said Deborah Banker, Ph.D., vice president, Society research communications. "The more we know about these processes, the better equipped we will be to control them and thereby improve human health."

About The Leukemia & Lymphoma Society

The Leukemia & Lymphoma Society, headquartered in White Plains, NY, with 66 chapters in the United States and Canada, is the world's largest voluntary health organization dedicated to funding blood cancer research and providing education and patient services. The Society's mission: Cure leukemia, lymphoma, Hodgkin's disease and myeloma, and improve the quality of life of patients and their families. Since its founding in 1949, the Society has invested more than $483 million in research specifically targeting leukemia, lymphoma and myeloma. Last year alone, the Society made 2.5 million contacts with patients, caregivers and healthcare professionals.

For more information about blood cancer, visit or call the Society's Information Resource Center (IRC), a call center staffed by master's level social workers, nurses and health educators who provide information, support and resources to patients and their families and caregivers. IRC information specialists are available at (800) 955-4572, Monday through Friday, 9 a.m. to 6 p.m. ET.

Contact: Andrea Greif 914.821-8958

The Leukemia & Lymphoma Society

CONTACT: Andrea Greif of The Leukemia & Lymphoma Society, +1-914-821-8958

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