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RESEARCH STUDY AT MOUNT SINAI SCHOOL OF MEDICINE
Families with Noonan syndrome that do not have a known genetic change in the PTPN11 gene are asked to participate.
We know that 50% or half of the families with Noonan syndrome have a change in a gene called PTPN11. But 50% of families with Noonan syndrome do not have a change in the PTPN11 gene. These families do have Noonan syndrome, but we do not yet know which gene of the 30,000 genes in our body has the change that is causing Noonan syndrome.
The goal of this study is to discover the other gene or genes that may be causing the remaining cases of Noonan syndrome. The research being conducted at Mount Sinai is done under the direction of Dr. Bruce Gelb. Dr. Gelb is the researcher who discovered that changes in PTPN11 cause Noonan syndrome. Through families like yours, we are hoping to find the other gene or genes that may be causing the remaining 50% of cases of Noonan syndrome.
Family members with and without Noonan syndrome are asked to participate in this study. This allows us to compare the genes of different family members to see if a particular gene change is seen only in members of the family with Noonan syndrome and therefore the cause.
To participate in this research, you will be asked to provide either a blood or saliva sample. That sample will be used to obtain your DNA. Medical information about your family will be collected. You need not be in the New York area. Participation can be done through the mail and telephone.
There is no direct benefit for participating in this research. The general benefit is to learn more about the genetics of Noonan syndrome so doctors can better help patients and families with Noonan syndrome in the future.
If you would like more information or are interested in participating in this research, please feel free to contact Kerri Lee at 212-241-6012 or e-mail: Kerri Lee .
Principal Investigator: Bruce D. Gelb, M.D. GCO#01-1049 IRB approved through: 07/31/2006 |