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In Rare Disorder, a Familiar Protein Disrupts Gene Function
Date:5/27/2009

nge syndrome." He added that a gene array might also be developed as a single-platform tool to diagnose, from a patient's blood sample, not only CdLS, but also a variety of other developmental disorders.

Funding for the study came from the National Institute of Child Health and Development of the National Institutes of Health, the Pennsylvania Department of Health, the Genome Network Project and Grant-in-Aid for Scientific Research from the MEXT, a Japanese government ministry. First author Jinglan Liu received a Cornelia de Lange Foundation Fellowship Grant.

Krantz's co-authors on the study came from Children's Hospital; the University of Pennsylvania School of Medicine; Drexel University School of Medicine; the Tokyo Institute of Technology; the Misakaenosono Mutsumi Developmental, Medical, and Welfare Center, in Isahaya, Japan; and the National University of Colombia, in Bogota, Colombia.

Liu et al, "Transcriptional dysregulation in NIPBL and cohesin mutant human cells," PloS Biology, published online, May 26, 2009.

About The Children's Hospital of Philadelphia: The Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children's Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country, ranking second in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 430-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit http://www.ch
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SOURCE The Children's Hospital of Philadelphia
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