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CdLS Research

CdLS Foundation Research Grants

2005 Awards


A Mouse Model of Cornelia de Lange Syndrome
Principal Investigator: Arthur Lander, MD, PhD, University of California, Irvine, CA.
Award: $10,000

The methods of genetic engineering have allowed us to introduce mutations similar to those known to cause CdLS into the NIPBL gene of mice. We have demonstrated that such animals exhibit some of the same heart abnormalities and growth differences as those seen in children with CdLS, and we are working to identify and characterize other changes. By studying such model mice we hope to learn how embryonic development is altered in CdLS, why the effects of CdLS vary so much among individuals, and how the manifestations of CdLS can be better diagnosed and treated.

Molecular Interactions of NIPBL in CdLS
Principal Investigator: Matthew Deardorff, MD, PhD, Children’s Hospital of Philadelphia, Philadelphia, PA.
Award: $5,000

The goal of this study is to identify and characterize the proteins that interact with NIPBL, the gene that causes CdLS. By identifying some of its partners, the functions of this large gene can begin to be clarified.

Osteoporosis and Evidence for Early Aging in CdLS
Co-Principal Investigators: Antonie D. Kline, MD, Greater Baltimore Medical Center Baltimore, MD, and Carmen P. Pichard, BS, Johns Hopkins University School of Medicine, Baltimore, MD.
Award: $5,000

The goals of this study are to categorize the presence and/or degree of osteoporosis in adolescents and adults with CdLS with the use of a DEXA scan and bone x-rays; evaluate hormonal and metabolite levels to determine potential risk factors and/or etiologies for osteoporosis in CdLS; and determine whether there is premature aging in CdLS in the musculoskeletal and hormonal system. Twenty older patients with CdLS (ages 18 to 35) are being recruited to participate in this study.

Participants are needed. For information, call the Foundation, 800-753-2357.

Behavioral Phenotype and Genotype-Phenotype of CdLS
Principal Investigator: Marco Grados, MD, MPH, Johns Hopkins University School of Medicine, Baltimore, MD.
Award: $5,000

Through interviews and surveys of parents whose children have CdLS, this project will identify maladaptive behaviors that can accompany CdLS. In addition, blood samples will be analyzed to see if specific forms of the gene that causes CdLS might contribute to those behaviors. The goal is a better understanding of the behavioral and psychiatric dimensions of CdLS that will help families find appropriate therapies for their children.

Participants are needed. For information, call the Foundation, 800-753-2357.