eMERGE III: Columbia GENIE (Genomic Integration with EHR)

The Columbia GENIE study contributes and shares phenotype and genotype data for individuals who were treated with our healthcare facilities and consented to share their data with dbGaP for scientific discovery. Some of these individuals have kidney or neurological problems and some are healthy volunteers from the Washington Height patient community. The purpose of this NOMAS study is to obtain information about physical features of the brain, carotid arteries, and heart. Some of our patients are pediatric patients with cardiac conditions.

The study sample consists of four patient cohorts:

1. Northern Manhattan Study (NOMAS), N=1072
2. Pediatric Cardiac Genomic Consortium (PCGC), n=374
3. Caribbean Hispanics with Familial and Sporadic Late Onset Alzheimer's disease (Caribbean Hispanics/AD), n=330
4. Alzheimer's Disease Sequencing Project (ADSP, n=44)
5. Genetics of Chronic Kidney Disease Study, n=1256

• Study Design:
  • Case-Control
• Study Type:
  • Case-Control
  • Prospective
  • Cohort
• dbGaP estimated ancestry using GRAF-pop
• Total number of consented subjects: 3065
• Subject Sample Telemetry Report (SSTR)

• BioProject
• BioSample
• MeSH

• Data of the PCGC and two Alzheimer's cohorts are already available through dbGaP prior to the start of this study (phs000571/phs000496/phs000572) and hence are merely referenced here.
• For the kidney disease cohort, patients with the diagnosis of Chronic Kidney Disease (CKD) and healthy controls were recruited to the Columbia University CKD Bio-bank.
• For the NOMAS cohort, eligible participants were stroke-free, were 40 years old, and resided for at least 3 months in a Northern Manhattan household with a telephone.

• Primary Phenotype: Genomic Medicine
• Renal Insufficiency, Chronic
• Alzheimer Disease
• Aortic Aneurysm, Abdominal
• Asthma
• Attention Deficit Disorder with Hyperactivity
• Clostridium difficile
• Dermatitis, Atopic
• Diabetes Mellitus, Type 2
• Heart Diseases
• Herpes Zoster
• Hypothyroidism
• Methicillin-Resistant Staphylococcus aureus
• Prostatic Hyperplasia

• Principal Investigators
  • Chunhua Weng, PhD. Department of Biomedical Informatics, Columbia University, College of Physicians and Surgeons, New York, NY, USA.
  • Ali G. Gharavi, MD. Department of Medicine, Columbia University, College of Physicians and Surgeons, New York, NY, USA.
  • George Hripcsak, MD, MS. Department of Biomedical Informatics, Columbia University, College of Physicians and Surgeons, New York, NY, USA.
• Investigators
  • Wendy Chung, MD, PhD. Department of of Pediatrics, Columbia University, College of Physicians and Surgeons, New York, NY, USA.
  • Krzysztof Kiryluk, MD, MS. Department of Medicine, Columbia University, College of Physicians and Surgeons, New York, NY, USA.
  • Yufeng Shen, PhD. Department of Biomedical Informatics and Systems Biology, Columbia University, College of Physicians and Surgeons, New York, NY, USA.
  • Mitchell Elkind, MD. Department of Neurology Stroke, School of Public Health, Columbia University, College of Physicians and Surgeons, New York, NY, USA.
  • Paul Appelbaum, MD. Department of Neuroscience, Columbia University, College of Physicians and Surgeons, New York, NY, USA.
  • David Goldstein, MD. Department of Genetics and Development, Columbia University, College of Physicians and Surgeons, New York, NY, USA.
  • David Albers, PhD. Department of Biomedical Informatics, Columbia University, College of Physicians and Surgeons, New York, NY, USA.
  • David Vawdrey, PhD. Department of Biomedical Informatics, Columbia University, College of Physicians and Surgeons, New York, NY, USA.
  • Carol Friedman, PhD. Department of Biomedical Informatics, Columbia University, College of Physicians and Surgeons, New York, NY, USA.