2nd Cohesin Biology and the Cohesinopathies Meeting

Cornelia De Lange Syndrome Foundation, Avon CT

Investigators

Abstract

DESCRIPTION (provided by applicant): The discovery of the structural maintenance of chromosomes (SMC) proteins in the 1980s and 1990s provided new insights into chromosome biology and led to the identification of the cohesin and condensin complexes. The cohesin complex and its regulators have a canonical role in sister chromatid segregation during mitosis. By 2000 there was a suggestion that cohesin may also be involved in a specific mechanism of gene regulation through long range enhancer-promoter interactions. In 2004, the first human developmental disorder to be caused by alterations in these complexes, the Cornelia de Lange syndrome (CdLS), was identified. Roberts syndrome was subsequently found to be caused by disruption of normal cohesin function, followed by the ATRX syndrome. This growing group of disorders, linked by a common molecular pathophysiology, has come to be known as "cohesinopathies". The first international symposium focusing on current aspects of cohesin biology and cohesinopathies took place at the Varenna Conference Centre, Varenna, Italy in May, 2007. This meeting brought together leaders in the field of cohesin biology as well as clinicians studying the disorders caused by disruption of this pathway with a goal of cross-pollinating ideas from the two groups towards advancing research into these diagnoses. The meeting was a resounding success. This current application requests support for the Second "Cohesin Biology and Cohesinopathies Meeting" to be held in Certosa, Italy from May 8-11, 2009. These scientific meetings will continue to be held on a biennial basis. The conference will include and encourage the participation of women, minorities, and trainees. The objectives of the meeting include: 1) provide a forum for the presentation of clinical and basic science research into cohesin function and cohesinopathies, and 2) create an environment in which leaders in the field of cohesin biology and clinicians studying various aspects of cohesin-related disorders can interact with each other to engender collaborations and future research undertakings The organizers expect to build on the past success of this meeting, generate enthusiasm and collaboration, encourage interest in the field from junior investigators and fellows interested in this area of research, as well as create new ideas for research and clinical initiatives. PUBLIC HEALTH RELEVANCE: This current application requests support for the Second "Cohesin Biology and Cohesinopathies Meeting" to be held in Certosa, Italy from May 8-11, 2009. The meeting will provide a forum for the presentation of clinical and basic science research into cohesin function and cohesinopathies, and create an environment in which leaders in the field of cohesin biology and clinicians studying various aspects of cohesin-related disorders can interact with each other to engender collaborations and future research undertakings.