Laboratory for Molecular Medicine > Research Studies
Research Studies
The Laboratory for Molecular Medicine
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.
Hereditary Hearing Loss Studies
Investigators:
Heidi Rehm, PhD, Margaret Kenna, MD
Contact:
Heidi Rehm, PhD - hrehm@hms.harvard.edu or 617-768-8291
Institutions:
Brigham and Women's Hospital and Children's Hospital Boston
Noonan Syndrome/PTPN11
Gene Mutation Studies
Investigators:
Raju Kucherlapati, PhD, Amy Roberts, MD
Contact:
Amy Roberts, MD - 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:
- www.GeneTests.com: 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.ClinicalTrails.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.
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