The University of Texas Health Science Center at Houston
McGovern Medical School
Department of Pediatrics
I have had the privilege of working with a team of dedicated physicians and nurse researchers in the establishment of a Registry for girls and women with Turner syndrome at UT Health as well as the Turner syndrome Adult Comprehensive Care Center. The purpose of these endeavors is to acquire clinical data on the presentation and progression of clinical findings in individuals with Turner syndrome so that we can further understand their needs and offer preventative health measures that may lead to improved clinical outcomes. This clinical research involves obtaining genetic material via a blood, saliva and/or urine sample as well as an initial questionnaire. The questionnaire obtains information regarding demographics, clinical presentation, co-morbidities, treatments and access to care. It is built through Redcap and can be disseminated via email or completed in person, at a clinic visit. We ask for access to medical records and imaging studies as well as permission to recontact them for further research opportunities. Participants are recruited via our Turner syndrome, Cardiology and Endocrine clinics. Genetic testing, such as SNP array and PCR, can be performed. Over the years, we have composed additional questionnaires to target specific areas of interest; some examples include the study of neurodevelopmental disorders and disorders of the lymphatic system. This has led to an improved understanding of the health and needs of this patient population. We hope to continue our research endeavors to further explore and expand our knowledge of this population and their co-morbidities.
Education & Training
MD, Ponce School of Medicine, 2001