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The Molecular Cardiology Laboratory at Weill Medical College of Cornell University (WMC-CU) is conducting a research study entitled "Molecular Genetics of Inherited Heart Disease". One inherited heart disease of particular interest is familial aortic aneurysm disease. The research on familial aortic aneurysm disease is being funded by a grant from the National Institutes of Health/National Heart, Lung and Blood Institute.
The goal of the research study is to identify genes that predispose certain individuals and their family members to aortic aneurysms, with possible dissection or rupture. Identification of such predisposing genes will ultimately permit us to develop clinical tools to identify individuals at risk for developing aortic aneurysms. An understanding of how the genes function could lead to better treatment options in the future. All individuals who have a personal or family history of aortic aneurysms are eligible to be considered for enrollment.
Participation in the study involves :
Signing a research study consent form
(approved by the Weill-Cornell IRB).
Providing a blood or saliva sample.
Releasing a copy of your echocardiogram tape and medical records
and/or potentially having an echocardiogram performed.
Providing family history information.
These evaluations require less than one hour of your time.
For families in the NY Metropolitan Area, arrangements can be made to perform echocardiograms at our institution, at no charge. Phlebotomy charges and certain travel costs will be reimbursed for participants. Please contact us for more information.
Principal Investigator of the Study:
Craig T. Basson, MD, PhD
Associate Professor of Medicine
Director, Cardiovascular Research
Phone: 212-746-2201
Email: ctbasson@med.cornell.edu
Contact person for the study:
Deborah A. McDermott, MS, CGC
Genetic Counselor
Molecular Cardiology Laboratory
Phone: 212-746-2054
Email: dam2001@med.cornell.edu
A group of physicians from throughout the United States, Canada, Australia, and New Zealand, have formed a collaborative effect to identify genes that may be important in the development of aneurysms in the blood vessels of the brain. This study of affected families, known as the Familial Intracranial Aneurysm (FIA) study, is sponsored by the National Institutes of Health and will involve 400 families.
To be eligible to participate in this study, families must have two or more affected pairs of siblings (brothers/sisters) or 3 or more family members affected with intracerebral aneurysms. Participants will be asked to complete a family history questionnaire and a medical history questionnaire. They will also have their blood pressure measured and will give a small sample of blood. In addition, certain family members will be offered the opportunity to undergo a Magnetic Resonance Angiography MRA (a non-invasive diagnostic test) to look for undiagnosed brain aneurysms. The cost of the study related MRA will be covered by the study. There will be no monetary compensation to family members for their participation. However, some funds will be available for travel reimbursement if necessary.
Additionally, participants will be contacted by mail on a yearly basis to evaluate their health, and to determine if any other family members have developed intracranial aneurysms.
Participation in this project is voluntary and is limited to families with affected siblings or 3 affected family members.
To request additional information or to enroll in this study
please contact Richard Ellsasser at Columbia University, at
212-342-1188. Information about the study can also be obtained via
email at
RHE26@columbia.edu or through our web
site.
