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Current Medical Studies:

Harvard Noonan Syndrome Study
Genetic Research regarding Noonan Syndrome
Amy E. Roberts, MD
Clinical Genetics Fellow
77 Avenue Louis Pasteur
Suite 250
Boston, MA 02115
Phone: (617)-525-5768
Fax: (617) 525-4488
E-mail:
aeroberts@partners.org
Current Studies:
I work with Raju Kucherlapati, PhD who was one of the principal investigators (along with Dr. Bruce Gelb) who discovered what has been called the first Noonan syndrome gene. The gene is called PTPN11 (protein tyrosine phosphatase non-receptor, type 11). In our experience, about half of children and adults who have been given a clinical diagnosis of Noonan syndrome (a diagnosis based on physical exam features and medical issues) will have a mutation or change in this gene when the gene is sequenced. The purpose of the study is to bring as many families to Boston as possible for evaluation. We can see patients starting now and hope to enroll through May 2004. The visit would include a review of family, developmental, and medical history and a complete physical exam. With your consent, photographs would be taken. Blood would be drawn for 1. PTPN11 mutation analysis, 2. Coagulation studies (if not already completed elsewhere), and 3. Chromosome analysis (if not already completed elsewhere). Anyone who has not had an echocardiogram would have one arranged. Anyone who has not had a kidney ultrasound would have one arranged. Anyone in the family who has a diagnosis of Noonan syndrome will be enrolled.
The results of all of the above studies would be made available to you and your referring doctor. It may take several months to get PTPN11 gene results but they will be made available to you and your doctor.
It is my preference to meet as many children as possible in person. However, if you would like to participate but cannot travel to Boston, the lab can now accept blood samples for the DNA test from your local geneticist and patients can be enrolled in the study from home.


University of Texas Southwestern Medical Center
Clinical Research in Autism by Dr. Kern as of 08/27/02
Janet K. Kern, Ph.D.
Department of Psychiatry
University of Texas Southwestern Medical Center
Dallas, Texas
Contact:Dr. Janet Kern 214-648-1751
E-mail: janet.kern@utsouthwestern.edu
Current Studies:
1. Title: Examination of the Non-classical Auditory System in Autism
Participants needed: Persons over 20 years old with autism, Aspergerís, or PDD
Reimbursement: $25
Time involved: 15 minutes
What it involves: Listening to sounds via earphones and answering simple questions, e.g., Is the sound louder?

2. Title: Sensory Dysfunction/Defensiveness in Autism
Participants needed: Persons 2-18 years old with autism
Reimbursement: $25
Time involved: 1 hour
What it involves: Parents complete two forms and answer questions about the childís response to the environment.

3. Title: Risk Factors and Clinical Characteristics that Precede the Development of Autistic Symptoms
Participants needed: Persons 0-10 years of age with autism, Aspergerís, or PDD
Reimbursement: none at this time
Time involved: 45 minutes
What it involves: Parents complete one form about the childís development history


Yale Child Study Center
Yale Child Study Center is doing several studies, among them one on Asperger Syndrome, another on Pervasive Developmental Disorder
Website: www.med.yale.edu/chldstdy/autism/research.html
Includes the studies being done by Dr. Ami Klin








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The resources and links found on this page are not endorsed by Books by MK, or by personal recommendation by Martha Kate Downey. If used as a resource by Martha Kate Downey, it will be stated as being so, but it is not to be construed as Martha Kate Downey being held responsible for information and/or services given by the organization or resource.
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