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Researchers at Children's Hospital of Philadelphia play major role in genetic milestone - first ,,full sequencing of a human chromosome

Philadelphia, Pa. - Researchers at The Children's Hospital of Philadelphia, where hundreds of children are treated each year for genetic diseases, played a major role in today's landmark announcement of the first sequencing of a complete human chromosome. Building on their previous work in producing a general map of chromosome 22, The Children's Hospital of Philadelphia research team processed large numbers of DNA segments from that chromosome in preparation for the sequencing. The Hospital is considered a world leader in caring for children with a genetic disorder that results from a defect of chromosome 22.

A significant event in the emerging era of genetic-based medicine, the research study, published today in the journal Nature, announces that scientists have determined the order of 33 million DNA bases, the chemical components of the genetic code, for nearly 700 genes on chromosome 22. Chromosome 22 is the first human chromosome to be sequenced under the federally sponsored Human Genome Project, which expects to complete a working draft of the sequences of all 23 human chromosomes by March of next year.

The multicenter study is co-authored by over 200 collaborators from research institutions in 6 nations. Among those collaborators is the research group from Children's Hospital, led by Beverly S. Emanuel, Ph.D. In 1995, Dr. Emanuel's laboratory completed an important earlier step in the process, publishing a physical map of chromosome 22. That map, one outcome of a five-year, $10 million federal grant, established the locations of genes and other DNA markers along the chromosome. It laid a foundation for today's far more detailed findings: the specific order of the nucleotides, the four chemical units that make up the DNA alphabet and which, in different combinations, form the chromosome's genetic code. In recognition of earlier pioneering genetics research on chromosome 22 by Dr. Emanuel and her colleagues, the National Institutes of Health desig
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Contact: Kajsa Haracz
Haracz@email.chop.edu
215-590-7092
Children's Hospital of Philadelphia
1-Dec-1999


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