The long-term goal of this application is to establish a continuing forum for exchange of information among basic and clinical scientists on Cornelia de Lange syndrome (CdLS) and other cohesinopathies, including Roberts syndrome (RBS), a-thalassemia/mental retardation X-linked (ATRX), and Warsaw breakage syndrome (WABS). These syndromes are caused by mutations that affect sister chromatid cohesion proteins, and display overlapping diverse structural abnormalities and mental disabilities. There is rapid progress in both the molecular understanding of cohesion proteins in cohesion, DNA repair, and gene expression, as well as in the clinical understanding of these syndromes. Thus there is tremendous opportunity for translational research that could lead to improvements in diagnosis, treatment, and clinical predictions. Standard scientific meetings, however, do not promote communication between basic and clinical scientists. Since 2004, focused meetings that bring leading basic and clinical scientists in these areas have been organized with the express purpose of promoting translational research. These yearly meetings have alternated between venues in the USA and Italy, to maximize international participation. They have successfully stimulated new research and collaborations that have led to discovery of new syndrome genes, diagnostic methods, potential molecular targets for therapy, improved clinical perspectives and anticipatory guidance. Participants in these meetings have expressed a strong desire to continue them, which is matched by a rapid pace of discovery in both the basic and clinical areas. The organizers are requesting support for five more meetings, two CdLS Science Symposia to be held in the USA (2012, 2014), and three Cohesin Biology and Cohesinopathies meetings in Italy (2011, 2013, 2015). The next meeting will be the 3rd Cohesin Biology and Cohesionopathies Meeting on May 20-23 2001 at the Il Ciocco Hotel near Barga, Italy. The specific objectives of the scientific meetings, which include and encourage participation of women, minorities, and trainees, are: 1. To disseminate current results of research into the causes, diagnosis, phenotypes, pathophysiology, and treatment of CdLS, RBS, ATRX, WABS as well as any new cohesinopathies that are discovered to scientists, clinicians, psychologists, teachers, allied health professionals, and families; and 2. To facilitate collaborations among researchers from diverse disciplines, including pediatric geneticists, molecular biologists, and behavioral scientists, and thereby stimulate translational science leading to improved diagnostic and therapeutic methods. It is believed these meetings will attract leading basic and clinical scientists as well as stimulate translational breakthroughs. The pace of research is rapid, and the continued meetings will be beneficial to professionals involved in research and treatment, as well as affected individuals and their families. NARRATIVE: Cohesinopathies are genetic birth defects that affect mental and physical development. The proposed scientific meetings will bring together scientists, doctors, and other professionals to share their knowledge, and stimulate interdisciplinary and translational research into the causes, diagnosis, and treatments.

Public Health Relevance

Cohesinopathies are genetic birth defects that affect mental and physical development. The proposed scientific meetings will bring together scientists, doctors, and other professionals to share their knowledge, and stimulate interdisciplinary and translational research into the causes, diagnosis and treatments.

Agency
National Institute of Health (NIH)
Type
Conference (R13)
Project #
4R13HD065379-05
Application #
8828737
Study Section
Biobehavioral and Behavioral Sciences Subcommittee (CHHD)
Program Officer
Toyama, Reiko
Project Start
Project End
Budget Start
Budget End
Support Year
5
Fiscal Year
2016
Total Cost
Indirect Cost
Name
Cornelia de Lange Syndrome Foundation
Department
Type
DUNS #
839858065
City
Avon
State
CT
Country
United States
Zip Code