Research

The Laboratory for Molecular Medicine (LMM) supports several research studies that are ongoing within the laboratory or in affiliation with other clinical research groups. For more information please click on the research study of interest.

Noonan Syndrome/PTPN11 Gene Mutation Studies

  • Investigators: Raju Kucherlapati, Ph.D., Amy Roberts, M.D.
  • Contact: Amy Roberts, M.D. - aeroberts@partners.org or 617-525-5768
  • Institutions: Brigham and Women's Hospital, Massachusetts General Hospital and Children's Hospital Boston

This study examines genotype-phenotype correlations for individuals and families (children and adults) with Noonan syndrome and related disorders. Two groups will be examined: those that meet the diagnostic criteria for Noonan syndrome and those that do not quite meet the criteria but have a "Noonan-like" appearance or presentation. Participants in the study will have PTPN11 mutation analysis testing. In addition, a medical and family history will be taken and a physical exam completed. Coagulation studies, a renal ultrasound and an echocardiogram will be completed if they have not already been done by the referring physician. Results of all testing will be made available to the referring physician and study participant if so desired by the enrollee. Accommodations for participation can be made for patients unable to travel to Boston to be evaluated in person.

Contact Amy Roberts, MD (aeroberts@partners.org, or 617-525-5768) for more information about study enrollment and inclusion criteria.

For more information about Noonan syndrome, see Resources.

 

Non-Affiliated Research

To search for research studies and/or clinical trials not associated with our laboratory and its affiliated groups refer to the following:

  • http://www.ncbi.nlm.nih.gov/sites/GeneTests/: This website provides a list of laboratories offering clinical and research testing for certain genetic conditions. To use, select "Laboratory Directory" and type in the name disease/condition you would like to find testing for. A list of laboratories offering clinical and research testing for the disease of interest will appear. Contact the listed laboratory for additional information about their clinical test and/or research study.
  • www.ClinicalTrials.gov: This website provides regularly updated information about federally and privately supported clinical research in human volunteers. To use, search by disease, study location, etc.