NEW RESEARCH STUDY 

Have you or your child been diagnosed with 

NOONAN SYNDROME

PULMONARY VALVE DISEASE

OR

HYPERTROPHIC CARDIOMYOPATHY?

NEW RESEARCH STUDY AT THE HARVARD PARTNERS CENTER FOR GENETICS AND GENOMICS (HPCGG)!

The goal of this study is to understand the gene changes that can lead to Noonan syndrome and related disorders. Changes in one gene 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 this gene. 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 teaspoon 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 at HPCGG in the Laboratory of Molecular Medicine.

Please have your physician contact Amy Roberts, MD 617-525-5768, or e-mail  aeroberts@partners.org for more information.

Most commonly asked Questions and Answers about the study?

Additional information about this study: (The HPCGG IRB)

The Noonan Syndrome Support Group, Inc. and any associated parties will not be held responsible for any actions readers take based on their interpretation of published or disseminated material. Please review medical treatment and decisions with your physician.