Core 2 - Driving Biological Projects Three DBPs were selected for the initial 3 years, with primary collaborations representing geographically diverse institutions. These will be replaced in Year 4 by new DPBs, in which a wider array of institutions will be represented. B.1.DBP1 Molecular Phenotyping of Kawasaki Disease Kawasaki disease (KD) is a self-limited, acute vasculitis that is the most common cause of acquired heart disease in children. Coronary artery aneurysms occur in up to 25% of untreated children, but can be prevented by timely administration of high dose intravenous immune globulin (IVIG). While the etiology is unknown, an infectious agent that triggers an immunologic reaction in genetically susceptible hosts is suspected. Genotyping of haplotyped-tagged single nucleotide polymorphisms (SNPs) has identified genetic variation in the pathways for TGFp and calcineurin/NFAT that influence disease susceptibility and outcome. The biomedical researchers face a number of dilemmas: 1. There is no diagnostic test for the condition to aid in the recognition of affected children, and the clinical syndrome can mimic other, more common infectious diseases of children that do not require specific therapy. 2. Treatment with IVIG must be administered eariy in the course of the vasculitis to prevent permanent damage to the cardiovascular system. While most children will respond to IVIG, approximately 20-30% will have persistent or recrudescent fever and inflammation, will require additional therapy, and will be at increased risk of developing coronary artery abnormalities. 3. Tools need to be created to risk stratify patients and to convert molecular data into clinically useful phenotypes that can guide therapy.

National Institute of Health (NIH)
National Heart, Lung, and Blood Institute (NHLBI)
Specialized Center--Cooperative Agreements (U54)
Project #
Application #
Study Section
Special Emphasis Panel (ZRG1-BST-K)
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
University of California San Diego
La Jolla
United States
Zip Code
Chen, Luyao; Aziz, Md Momin; Mohammed, Noman et al. (2018) Secure large-scale genome data storage and query. Comput Methods Programs Biomed 165:129-137
Groat, Danielle; Soni, Hiral; Grando, Maria Adela et al. (2018) Self-Reported Compensation Techniques for Carbohydrate, Exercise, and Alcohol Behaviors in Patients With Type 1 Diabetes on Insulin Pump Therapy. J Diabetes Sci Technol 12:412-414
Nguyen, Nghia H; Khera, Rohan; Ohno-Machado, Lucila et al. (2018) Annual Burden and Costs of Hospitalization for High-Need, High-Cost Patients With Chronic Gastrointestinal and Liver Diseases. Clin Gastroenterol Hepatol 16:1284-1292.e30
Weng, Wei-Hung; Wagholikar, Kavishwar B; McCray, Alexa T et al. (2017) Medical subdomain classification of clinical notes using a machine learning-based natural language processing approach. BMC Med Inform Decis Mak 17:155
Groat, Danielle; Grando, Maria A; Thompson, Bithika et al. (2017) A Methodology to Compare Insulin Dosing Recommendations in Real-Life Settings. J Diabetes Sci Technol 11:1174-1182
Doan, Son; Ritchart, Amanda; Perry, Nicholas et al. (2017) How Do You #relax When You're #stressed? A Content Analysis and Infodemiology Study of Stress-Related Tweets. JMIR Public Health Surveill 3:e35
Grando, Maria Adela; Groat, Danielle; Soni, Hiral et al. (2017) Characterization of Exercise and Alcohol Self-Management Behaviors of Type 1 Diabetes Patients on Insulin Pump Therapy. J Diabetes Sci Technol 11:240-246
Burgoyne, Adam M; De Siena, Martina; Alkhuziem, Maha et al. (2017) Duodenal-Jejunal Flexure GI Stromal Tumor Frequently Heralds Somatic NF1 and Notch Pathway Mutations. JCO Precis Oncol 2017:
Chen, Feng; Wang, Shuang; Jiang, Xiaoqian et al. (2017) PRINCESS: Privacy-protecting Rare disease International Network Collaboration via Encryption through Software guard extensionS. Bioinformatics 33:871-878
Vaidya, Jaideep; Shafiq, Basit; Asani, Muazzam et al. (2017) A Scalable Privacy-preserving Data Generation Methodology for Exploratory Analysis. AMIA Annu Symp Proc 2017:1695-1704

Showing the most recent 10 out of 176 publications