Ontology driven integration platform for clinical and translational research

Semantic Web technologies offer a promising framework for integration of disparate biomedical data. In this paper we present the semantic information integration platform under development at the Center for Clinical and Translational Sciences (CCTS) at the University of Texas Health Science Center at Houston (UTHSC-H) as part of our Clinical and Translational Science Award (CTSA) program. We utilize the Semantic Web technologies not only for integrating, repurposing and classification of multi-source clinical data, but also to construct a distributed environment for information sharing, and collaboration online. Service Oriented Architecture (SOA) is used to modularize and distribute reusable services in a dynamic and distributed environment. Components of the semantic solution and its overall architecture are described.

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DEAN’S MESSAGE CELEBRATING 35 YEARS AKERS SCHOLARSHIP ENDOWMENT NANCY B. WILLERSON ENDOWED PROFESSORSHIP PARTNERS LUNCHEON UT PARTNERS WITH ALDINE ISD THE FUTURE IS HERE RETIRED PHYSICIANS SHARE YEARS OF KNOWLEDGE CARING FOR BABIES RESEARCH STARS CENTER ON AGING VIDEOS/ALUMNI NEWS FACULTY SCHOLARSHIP

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Welcome from Dean Patricia Starck The Face of Health Care Leading Technology School of Nursing Collaborates to Initiate Texas Medical Center’s First Digital Repository Nursing Research, A Growing Field Nursing in the Wake of the Storm Profile: Huaping Liu, RN, PhD, Dean and Associate Professor, School of Nursing at Peking Union Medical College Newsbrief: Planning for the Future with a New Doctor of Nursing Practice Program in Fall 2006 Newsbrief: Fast Track Nursing Program Gives Students a Speedy Start Profile: Susan Bankston, RN, BSN, Psychiatric Nursing, Currently enrolled in the MSN to DSN track Newsbrief: University of Texas Health Services Reports Outstanding Achievements in FY’05 Student Grants Newsbrief: New Degree Program Develops Leadership and Business Skills for Today’s Nurses Profile: Pamela Klauer Triolo, PhD, RN, FAAN Clinical Professor of Nursing Director, Nursing Leadership and Administration in Health Systems Newsbrief: Successful Luncheon Completes $1 Million Endowment UT School of Nursing Building Recognized as Blending Form and Function Faculty Scholarship Endowed Faculty Positions

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Greeting Consortium on Aging Biobank at School of Nursing PARTNERS Luncheon/ "Ralph Thomas knows the value of investing in the future..." UTHealth, HCC Partnering for more Bachelor's Degree Nurses in Texas/ New Pacesetters Program Fast-Track PhD Program/ AccPhD scholars took many routes to same commitment Profiles and Newsbriefs McCombs School's MBA Program/ Keeping in Touch with Alumni Faculty Publications Faculty Research Endowed Faculty Positions

Genotypic spectrum and genotype-phenotype correlation of trimethylaminuria

Trimethylaminuria (TMAU) or Fish odor syndrome is an autosomal recessive disease that is characterized by pungent body odor with subsequent psychosocial complications. There are limited studies of the sequence variants causing TMAU in the literature with most studies describing only one or two patients and lacking genotype-phenotype correlations. Also to date, there is no laboratory in the US or Europe that offers TMA genetic testing on a clinical basis. We have recently validated genetic testing in the University of Colorado DNA Diagnostic Laboratory. We have a database of a few dozen patients with a biochemical diagnosis of TMA at the University of Colorado at Denver Health Sciences Center (UCDHSC) which includes a few patients with the classical form of the disease. We have used the newly established clinical test in our institution to attempt to characterize the genotype (sequence variants including mutations and polymorphisms) of classical TMAU patients and to establish a genotype-phenotype (biochemical and clinical) association. The questionnaire results confirmed most of the previously reported epidemiological findings of TMAU and also indicated that TMAU patients use multiple intervention measures in attempt to control their symptoms with dietary control being most effective. Despite the complexity of intervention, most patients did not have any medical follow up and there was underutilization of specialist care. In a set of our patients, two deleterious mutations were identified in 4/12 patients including a novel T237P sequence variant, while the majority of our patients (8/12) did not reveal any mutations. Some of the latter were double heterozygous for the E158K and E308G polymorphisms which could explain a mild phenotype while others had only the E158K variant which raised the question of undetected mutations. These results indicate that further experiments are needed to further delineate the full mutational spectrum of the FMO3 gene. ^