| Author |
Kline, Antonie D. Calof, Anne L. Lander, Arthur D. Gerton, Jennifer L. Krantz, Ian D. Dorsett, Dale Deardorff, Matthew A. Blagowidow, Natalie Yokomori, Kyoko Shirahige, Katsuhiko Santos, Rosaysela Woodman, Julie Megee, Paul C. O'Connor, Julia T. Egense, Alena Noon, Sarah Belote, Maurice Goodban, Marjorie T. Hansen, Blake D. Timmons, Jenni Glad Musio, Antonio Ishman, Stacey L. Bryan, Yvon Wu, Yaning Bettini, Laura R. Mehta, Devanshi Zakari, Musinu Mills, Jason A. Srivastava, Siddharth Haaland, Richard E. |
| Description |
Author Affiliation: Kline AD ( Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland.); Calof AL ( Department of Anatomy & Neurobiology, and the Center for Complex Biological Systems, University of California, Irvine, California.); Lander AD ( Department of Developmental & Cell Biology, and the Center for Complex Biological Systems, University of California, Irvine, California.); Gerton JL ( Department of Developmental & Cell Biology, and the Center for Complex Biological Systems, University of California, Irvine, California.); Krantz ID ( Stowers Institute for Medical Research, University of Kansas School of Medicine, Kansas City, Missouri.); Dorsett D ( Department of Biochemistry and Molecular Biology, University of Kansas School of Medicine, Kansas City, Missouri.); Deardorff MA ( Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.); Blagowidow N ( Department of Pediatrics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.); Yokomori K ( Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, Saint Louis, Missouri.); Shirahige K ( Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.); Santos R ( Department of Pediatrics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.); Woodman J ( Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland.); Megee PC ( Department of Biologic Chemistry, University of California, Irvine, California.); O'Connor JT ( Institute of Molecular and Cellular Biosciences, The University of Tokyo, and CREST, Japanese Science and Technology Agency, Tokyo, Japan.); Egense A ( Department of Developmental & Cell Biology, and the Center for Complex Biological Systems, University of California, Irvine, California.); Noon S ( Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine, Denver, Colorado.); Belote M ( Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine, Denver, Colorado.); Goodban MT ( Department of Psychiatry and Behavioral Sciences, Kennedy Krieger Institute, Baltimore, Maryland.); Hansen BD ( Johns Hopkins University School of Medicine, Baltimore, Maryland.); Timmons JG ( Division of Human Genetics, Department of Pediatrics, University of Maryland Medical Center, Baltimore, Maryland.); Musio A ( Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.); Ishman SL ( California Deaf-Blind Services, San Francisco State University, San Francisco, California.); Bryan Y ( Speech Language Pathology, Elmhurst College, Elmhurst, Illinois.); Wu Y ( Department of Counseling Psychology and Special Education, Brigham Young University, Provo, Utah.); Bettini LR ( University of Minnesota Doctor of Nursing Practice-Health Innovation and Leadership, Minneapolis, Minnesota.); Mehta D ( Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.); Zakari M ( Departments of Otolaryngology and Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio.); Mills JA ( Department of Anesthesiology, Wake Forest Baptist Medical Center, Winston-Salem, North Carolina.); Srivastava S ( Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.); Haaland RE ( Department of Pediatrics, Fondazione MBBM, San Gerardo Hospital, Monza, Italy.) |
| Abstract |
Cornelia de Lange Syndrome (CdLS) is the most common example of disorders of the cohesin complex, or cohesinopathies. There are a myriad of clinical issues facing individuals with CdLS, particularly in the neurodevelopmental system, which also have implications for the parents and caretakers, involved professionals, therapists, and schools. Basic research in developmental and cell biology on cohesin is showing significant progress, with improved understanding of the mechanisms and the possibility of potential therapeutics. The following abstracts are presentations from the 6th Cornelia de Lange Syndrome Scientific and Educational Symposium, which took place on June 25-26, 2014, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting in Costa Mesa, CA. The Research Committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board. In addition to the scientific and clinical discussions, there were educationally focused talks related to practical aspects of behavior and development. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD. |
