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Have you or your child been diagnosed with NOONAN SYNDROME? RESEARCH STUDY AT HARVARD MEDICAL SCHOOL The goal of this study is to understand the gene changes that can lead to Noonan syndrome and related disorders. Changes in one of four genes have been identified in many people with Noonan syndrome. We would like to know if others with Noonan syndrome and related disorders also have mutations in these genes. We would also like to know more about you, your medical issues, and your family history to determine if certain features are associated with particular gene mutations. Involvement in the study would require a referral to one of the research centers at Brigham and Women’s Hospital, Massachusetts General Hospital, or Children’s Hospital Boston or a visit to your own geneticist. Your physical exam, medical history, and family history would be reviewed. One sample of blood (3 teaspoons for adults, 2 teaspoons for children, 1 teaspoon for infants) would be required. If you have never had a cardiac ultrasound or renal ultrasound these studies would be arranged. The results of all of the testing will be made available to you by a geneticist or genetic counselor associated with the study. With your permission, we will establish cell cultures and DNA to be stored in the Laboratory for Molecular Medicine at the Center for Genetics and Genomics. Please have your physician contact Amy Roberts, MD 617-355-6529 (amy.roberts@cardio.chboston.org) for more information. Most commonly asked Questions and Answers about the study? Additional information about this study: (The HPCGG IRB)
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