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dbGaP phs000925 PAGE: IPM BioMe Biobank - Eligibility

- 2024-04-28 - 5 moduli, 1 ItemGroup, 1 elemento, 1 linguaggio

ItemGroup: IG.elig

Principal Investigator: Ruth Loos, PhD, The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA MeSH: Cardiovascular Diseases,Obesity,Diabetes Mellitus, Type 2,Glucose,Kidney Failure, Chronic,Cholesterol, HDL,Cholesterol, LDL,Triglycerides,Coronary Disease,Myocardial Infarction,Inflammation,Stroke,Body Height https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000925 The Institute for Personalized Medicine (IPM) Bio*Me* Biobank is a consented, EMR-linked medical care setting biorepository of the Mount Sinai Medical Center (MSMC) drawing from a population of over 70,000 inpatients and 800,000 outpatient visits annually. MSMC serves diverse local communities of upper Manhattan, including Central Harlem (86% African American), East Harlem (88% Hispanic Latino), and Upper East Side (88% Caucasian/white) with broad health disparities. IPM Bio*Me* Biobank populations include 28% African American, 38% Hispanic Latino predominantly of Caribbean origin, 23% Caucasian/White. IPM BioMe Biobank disease burden is reflective of health disparities with broad public health impact. Biobank operations are fully integrated in clinical care processes, including direct recruitment from clinical sites waiting areas and phlebotomy stations by dedicated Biobank recruiters independent of clinical care providers, prior to or following a clinician standard of care visit. Recruitment currently occurs at a broad spectrum of over 30 clinical care sites. This study is part of the Population Architecture using Genomics and Epidemiology (PAGE) study (phs000356).

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pht005178.v1.p1

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pht006203.v1.p1

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pht005177.v1.p1

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dbGaP phs000827 N.C. Clinical Genomic Evaluation by NextGen Exome Sequencing (NCGENES) - Eligibility

- 2024-03-04 - 5 moduli, 1 ItemGroup, 8 elementi, 1 linguaggio

ItemGroup: IG.elig

Principal Investigator: James P. Evans, MD, PhD, University of North Carolina, Chapel Hill, NC, USA MeSH: Genetic Diseases, Inborn,Neoplasms,Adenomatous Polyposis Coli,Microcephaly,Aortic Aneurysm, Thoracic,Peripheral Nervous System Diseases,Cardiomyopathies,Leukodystrophy, Globoid Cell,Seizures,Mitochondria,Inflammation,Autoimmune Diseases,Progeria,Retina,Muscular Diseases,Rhabdomyolysis,Arrhythmias, Cardiac,Osteochondrodysplasias,Intellectual disability,Autistic Disorder,Neuromuscular Diseases,Paraplegia,Central Nervous System Diseases,Cholestasis,Anemia,Genetic Testing https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000827 North Carolina Clinical Genomic Evaluation by Next-generation Exome Sequencing This study is part of a larger consortium project investigating the validity and best use of next-generation sequencing (in particular, whole exome sequencing, or WES) in clinical care. Participants are patients who were either seen in the UNC Cancer and Adult Genetics Clinic or referred to the study by their physician. They will be approached by their physician or a genetic counselor for recruitment. Once enrolled, a clinical geneticist or genetic counselor will obtain consent and collect blood samples to be analyzed using WES. Results may include information related to a diagnosis and incidental information. Medically actionable incidental findings will be CLIA-certified and returned to participants in a routine genetic counseling session, along with diagnostic findings. Eligible adult participants will be randomized to have the opportunity to choose to get certain types of non-medically actionable incidental findings, as well. Their decisions will be investigated, as will psychosocial and behavioral responses to sequencing and receiving sequencing information. This is a longitudinal, mixed methods study (i.e., multiple assessments pre- and post-return of results, with both quantitative and qualitative methods used to gather data). Because only the quantitative component of the study uses randomization, only measures and procedures associated with that component are included here. The third study release includes data of additional n=189 subjects.

pht004472.v3.p1

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pht004469.v3.p1

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pht004470.v3.p1

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pht004471.v3.p1

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dbGaP phs001345 NHLBI TOPMed: Genetic Epidemiology Network of Arteriopathy (GENOA) - Eligibility

- 2023-03-05 - 4 moduli, 1 ItemGroup, 6 elementi, 1 linguaggio

ItemGroup: IG.elig

Principal Investigator: Sharon L.R. Kardia, PhD, University of Michigan, Ann Arbor, MI, USA MeSH: Hypertension,Aging,Arterial Pressure,Arteriosclerosis,Atherosclerosis,Biomarkers,Blood Pressure,Cardiovascular Diseases,Cholesterol,Cholesterol, HDL,Cholesterol, LDL,Coronary Artery Disease,Diabetes Mellitus,Echocardiography,Endophenotypes,Hyperglycemia,Hyperinsulinism,Hypertrophy, Left Ventricular,Inflammation,Kidney Failure, Chronic,Leukoaraiosis,Lipids,Obesity,Obesity, Abdominal,Peripheral Arterial Disease,Renal Insufficiency, Chronic,Triglycerides,Vascular Calcification https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001345 The Genetic Epidemiology Network of Arteriopathy (GENOA) is one of four networks in the NHLBI Family-Blood Pressure Program (FBPP). GENOA's long-term objective is to elucidate the genetics of target organ complications of hypertension, including both atherosclerotic and arteriolosclerotic complications involving the heart, brain, kidneys, and peripheral arteries. The longitudinal GENOA Study recruited European-American and African-American sibships with at least 2 individuals with clinically diagnosed essential hypertension before age 60 years. All other members of the sibship were invited to participate regardless of their hypertension status. Participants were diagnosed with hypertension if they had either 1) a previous clinical diagnosis of hypertension by a physician with current anti-hypertensive treatment, or 2) an average systolic blood pressure = 140 mm Hg or diastolic blood pressure = 90 mm Hg based on the second and third readings at the time of their clinic visit. Only participants of the African-American Cohort were sequenced through TOPMed. The Family Blood Pressure Program (FBPP), GENOA's parent program, is an unprecedented collaboration to identify genes influencing blood pressure (BP) levels, hypertension, and its target-organ damage. This program has conducted over 21,000 physical examinations, assembled a shared database of several hundred BP and hypertension-related phenotypic measurements, completed genome-wide linkage analyses for BP, hypertension, and hypertension associated risk factors and complications, and published over 130 manuscripts on program findings. The FBPP emerged from what was initially funded as four independent networks of investigators (HyperGEN, GenNet, SAPPHIRe and GENOA) competing to identify genetic determinants of hypertension in multiple ethnic groups. Realizing the greater likelihood of success through collaboration, the investigators created a single confederation with program-wide and network-specific goals. Comprehensive phenotypic data for GENOA study participants are available through dbGaP phs001238.

pht008602.v1.p1

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pht008603.v1.p1

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pht008604.v1.p1

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dbGaP phs000397 NIA Long Life Family Study (LLFS) - Eligibility

- 2022-10-12 - 6 moduli, 1 ItemGroup, 3 elementi, 1 linguaggio

ItemGroup: IG.elig

Principal Investigator: Michael A. Province, PhD, Washington University School of Medicine, St. Louis, MO, USA MeSH: Longevity,Aging,Cardiovascular Diseases,Neoplasms,Stroke,Inflammation,Immune System,Diabetes Mellitus,Hypertension,Dyslipidemias,Lipids,Osteoporosis,Pulmonary Function Tests,Kidney Function Tests,Alzheimer Disease,Depression,Personality,Executive Function,Reproductive History https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000397 The Long Life Family Study (LLFS) is an international collaborative study of the genetics and familial components of exceptional survival, longevity, and healthy aging. Families were recruited through elderly probands (generally in their 90s) who self-reported on the survival history of their parents and siblings, and on the basis of this information, families which showed clustering of exceptional survival were recruited. [Specifically, a Family Longevity Selection Score (FLOSS) ≥7 was required. The FLOSS measures the average excess Observed lifespan over that Expected based upon lifetables, while adding a bonus term for still-living individuals. Thus FLOSS is a useful tool for scoring and selecting families for inclusion in a research study of exceptional survival (Sebastiani et al., 2009, PMID: 19910380)]. Probands resided in the catchment areas of four Field Centers (Boston University, Columbia University, University of Pittsburgh, and University of Southern Denmark). Recruited family members were phenotyped through extensive in-home visits by teams of technicians who traveled all over the USA and Denmark. Blood assays were centrally processed at a Laboratory Core (University of Minnesota) and protocols were standardized, monitored and coordinated through a Data Management Coordinating Center (Washington University). We examined and extensively phenotyped in all major domains of healthy aging, 4,953 individuals in 539 families through comprehensive in-home visits. Of these, 4,815 gave dbGaP sharing permission and had sufficient quantity/quality of DNA for GWAS genotyping. This large collection of families, selected on the basis of clustering for exceptional survival, is a unique resource for the study of human longevity and healthy aging. We estimate that less than 1% of the Framingham Heart Study (FHS) families (a roughly random population family sample) would meet the minimal entrance criteria for exceptional survival required in the LLFS (Sebastiani et al., 2009, PMID: 19910380). Thus, the least exceptional LLFS families show more clustering for exceptional longevity than 99% of the FHS families. Although the LLFS pedigrees were selected on the basis of longevity per se in the upper generation (and the generation above that), the children's generation have significantly lower rates of many major diseases and have better healthy aging profiles for many disease phenotypes (Newman et al., 2011, PMID: 21258136). The participants had their first in-person visit between 2006 and 2009. After that visit, they were contacted annually by telephone to update vital status, medical history, and general health. Between 2014 and 2017, willing participants completed a second in-person visit. The second visit followed the same protocols and centralized training as the first visit. During the second visit, a portable carotid ultrasound exam was added. Again, participants were continuously contacted annually for telephone follow-up during the period of the second in-person visit and after that. Annual telephone follow-ups currently ongoing, and plans for a third in-person visit are in progress.

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- 2021-07-03 - 1 modulo, 1 ItemGroup, 3 elementi, 2 lingue

ItemGroup: inflammation

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ItemGroup: inflammation

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- 2021-07-03 - 1 modulo, 1 ItemGroup, 3 elementi, 2 lingue

ItemGroup: inflammation

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