Active clinical trials for "Genetic Predisposition to Disease"

This research trial studies the genes biomarkers in children with neuroblastoma. Studying the genes in a child's cancer cells may help doctors improve ways to diagnose and treat children with neuroblastoma.

Primary Objectives: To test the hypothesis that children whose mothers are Migrant/Seasonal Farmworkers (MSFs) (occupationally-exposed to pesticides) may be at a higher risk for exhibiting mutagen-induced DNA damage than children whose mothers and fathers are not MSFs. To test the hypothesis that MSF mothers (occupationally-exposed to pesticides) may be at a higher risk for exhibiting mutagen-induced DNA damage than mothers who are not MSFs. Secondary Objectives: To test the hypothesis that both the extent of pesticide exposure and the type of polymorphisms in chemical detoxification genes and DNA repair genes contribute to the extent of cytogenetic damage found in children of MSF women. To test the hypothesis that both the extent of pesticide exposure and the type of polymorphisms in chemical detoxification genes and DNA repair genes contribute to the extent of cytogenetic damage found in MSF mothers. To test the hypothesis that the total concentration levels of organochlorine (OCP) and organophosphate (OP) pesticides will correlate with the mutagenic potency of the serum and urine of the children. To test the hypothesis that the total concentration levels of OCP and OP pesticides will correlate with the mutagenic potency of the serum and urine of the mothers. To test the hypothesis that inherited polymorphisms in the PON1 gene and its expression modulate the risk for OP genotoxicity measured by the inhibition of the acetylcholinesterase enzyme in MSF children. To test the hypothesis that inherited polymorphisms in the PON1 gene and its expression modulate the risk for OP genotoxicity measured by the inhibition of the acetylcholinesterase enzyme in MSF mothers.

The objective of this study is to investigate molecular, cytological and genetic features of occupational chronic obstructive pulmonary disease (COPD) in conditions of different occupational exposures. In order to achieve this goal serum pro-inflammatory cytokines and standard inflammation markers level, hemostasis, cytological analysis of bronchoalveolar lavage fluid and association of single nucleotide polymorphisms (SNPs) rs1800470 transforming growing factor β1 (TGF β1) gene, rs1828591 hedgehog interacting protein (HHIP) gene, rs4129267 interleukin 6 receptor (IL-6R) gene, rs1051730 nicotinic acetylcholine receptor 3 (CHRNA3) gene with COPD in subjects exposed to silica dust and in those exposed to polycyclic aromatic hydrocarbons exhaust will be investigated. The relationship between genotype and phenotype characteristics, such as an inflammation activity, assessed by C-reactive protein (hsCRP) and tumor necrosis factor alpha (TNF α) serum concentration, in different occupational COPD groups will be studied. The hypothesis is that the mechanisms underlying disease development and progression are different due to environmental risk factor that reflex in differs in disease attributes - molecular biomarkers, cytology results and genetic susceptibility between COPD due to dust, COPD due to chemicals and COPD in smokers therefore COPD can be subdivided into ecological phenotypes according to environmental risk factor.

The MilSeq Project is a nonrandomized, prospective pilot study of whole exome sequencing (WES) in the U.S. Air Force. The purpose of this study is to explore the implementation of WES into clinical medical care in the military health system.

The purpose of this study is to determine the relationship between genomic variants of components of the renin-angiotensin system and the development of kidney problems due to Calcineurin-inhibitors post liver transplant.Also the investigator will evaluate the relationship between chronic renal failure post liver transplant and the risk of death. A sample of blood and urine wil be examined to see how the patient's genes are arranged in order to determine the difference in genes between people which may explain who will develop chronic renal failure after having received a liver transplant. The results may help us classify patients according to their risk and allow us to target their treatment to their individual need. In addition, it may ultimately lead to treatments that slows or prevents the development of chronic rejection.

This is a registry for patients who have a risk-reduction mastectomy ("prophylactic mastectomy") due to being at high risk for developing breast cancer, followed by breast reconstruction. Eligible patients include those who have a breast cancer-related gene, a strong family history of breast cancer, or a personal history of high-risk conditions such as cancer in the other breast or ductal carcinoma in situ (DCIS). Patients are enrolled in the registry before surgery, and are followed for up to ten years afterwards. In addition to studying medical outcomes, we will periodically survey patients for quality-of-life issues and psychological well-being. There is no compensation for being enrolled in this registry. This registry is conducted through the Department of Plastic Surgery at Georgetown University Hospital, and is a sub-registry to the Fisher Familial Cancer Registry at the Lombardi Comprehensive Cancer Center at Georgetown University.

The aim of this study is to examine the interindividual variability of subjective and hormonal appetite responses to a standardised meal in healthy men and explore any moderating influence of the fat mass and obesity associated gene (FTO). Participants homozygous for the obesity risk A allele (AA) or low risk T allele (TT) of FTO rs9939609 will complete two fasted control and two standardised meal (5025 kJ energy, 47% carbohydrate, 9% protein, 44% fat) conditions in randomised sequences. Ratings of perceived appetite and venous blood samples will be taken before and after the interventions. Interindividual differences in appetite responses and the potential moderating influence of the FTO gene will be examined using bivariate correlations and linear mixed modelling.

The objective of this study is to investigate molecular, cytological and genetic features of occupational chronic obstructive pulmonary disease (COPD) in conditions of different occupational exposures. In order to achieve this goal serum pro-inflammatory cytokines and standard inflammation markers level, hemostasis, cytological analysis of bronchoalveolar lavage and associations of single nucleotide polymorphisms (SNPs) rs1800470 transforming growing factor β1 (TGF β1) gene, rs1828591 hedgehog interacting protein (HHIP) gene, rs4129267 interleukin 6 receptor (IL-6R) gene, rs1051730 nicotinic acetylcholine receptor 3 (CHRNA3) gene with COPD in subjects exposed to silica dust and in those exposed to polycyclic aromatic hydrocarbons exhaust will be investigated. The relationship between genotype and phenotype characteristics, such as an inflammation activity, assessed by C-reactive protein (hsCRP) and tumor necrosis factor-α (TNF α) serum concentration, in different occupational COPD groups will be studied. The hypothesis is that the mechanisms underlying disease development and progression are different due to environmental risk factor that reflex in differs in disease attributes - molecular biomarkers, cytology results and genetic susceptibility between COPD due to dust, COPD due to chemicals and COPD in smokers therefore COPD can be subdivided into ecological phenotypes according to environmental risk factor.

Approximately 10% of the world's population have a particular genetic makeup (known as the TT genotype) that may increase their risk of having higher blood pressure. Previous work conducted by the investigators research group at the University of Ulster, in collaboration with clinical colleagues from across Northern Ireland, in premature CVD patients and hypertensive adults generally has demonstrated that a dietary level of riboflavin (1.6mg/d) decreases blood pressure, specifically in those with the TT genotype. To date, the blood pressure lowering effects of higher doses of riboflavin in individuals with the TT genotype is not known. The aim of this study is to investigate whether supplementation with riboflavin at a low dose supplemental level (10mg/d) can decrease blood pressure more effectively than the dietary level (1.6mg/d) by optimising riboflavin status and normalising MTHFR activity. This aim will be achieved by conducting a double-blind placebo-controlled intervention study over a 16 week period. Participants will be recruited from cohorts screened for the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism. Those identified with the TT genotype (homozygous for the polymorphism) that wish to participate in this research will be asked to attend a baseline and week-16 appointment and will be asked to take a daily riboflavin (1.6 or 10mg/d) or placebo capsule for the duration of the study. At each appointment a blood sample will be taken and blood pressure, height, weight and waist circumference will be measured. If the results of this study show that intervention with a higher dose of riboflavin can lower blood pressure more effectively in individuals with the TT genotype this will have important implications for those responsible for the management of blood pressure. The findings will be of particular relevance in populations with a higher prevalence of the polymorphism.

This study will further the understanding of the genetic events leading to the development of RCC.