View clinical trials related to Disease Susceptibility.
Filter by:The overall goal of this study is to reduce breast cancer morbidity and mortality disparities among African American women by actively engaging family history as a tool to modify screening regimens and enhance communication between women and their providers. Therefore, this rationale is reflected the project title: "You cannot change your family history, but you can change what you do with it: A peer-based education program to reduce breast cancer risk in African American women" This study will develop and test an educational curriculum that highlights the importance of knowing family history and sharing it with health care providers. The curriculum will include tools to gather family history and discuss it with providers to guide the delivery of care. The investigators will assess the effectiveness of the curriculum in group and one-on-one settings and when delivered by a Patient Ambassador (peer train-the trainer model) or a researcher. The specific objectives of the study are to: Obj. 1: Develop a CBPR-based curriculum- using a community based participatory research (CBPR) approach, that highlights the importance of family history as a risk factor for breast cancer that includes tools to collect family history information and discuss it with providers to enable a family history based screening regimen. Obj. 2: Train Patient Ambassadors- Patient Ambassadors, women from the community who act as community messengers to deliver the curriculum. Obj. 3: Pilot Implementation and Extensive Evaluation of the Curriculum- Assess two modes of delivery, group vs one-on-one, and Peer Ambassadors vs. a researcher. Obj. 4: Dissemination- of the curricular products, implementation pilot results, and implementation guides for communities and practices- via publications and other channels in preparation for grant submits to enhance the program.
In recent years, returning genetic results to research participants has become a topic of debate, with a growing consensus that researchers should offer to return incidental findings and research results to participants. Currently, the research and debates surrounding return of results (ROR) have primarily taken place in high-income countries. Less attention has been paid to ROR in lower-resource countries. However, research participants in these settings may have additional threats, barriers, and/or competing interests that reduce the benefit or relevance of receiving genetic results. Arsenic is a toxic metal. Exposure to arsenic increases a person's risk for cancer, especially in the lung, kidney, bladder and skin. Many people in Bangladesh are exposed to elevated environmental levels of arsenic through naturally contaminated drinking water. People who metabolize arsenic (remove it from their body) slower compared to people who metabolize arsenic more efficiently are at higher risk for arsenic toxicities (e.g. cancer). The investigators have designed a study in which they plan to enroll individuals who have had consistently high urine As levels (≥200 µg/g creatinine) based on 15-20 years of follow-up data. The treatment and control groups will be selected based on genotype (i.e. inefficient and efficient As metabolizers, respectively), allowing for the selection of the groups to be quasi-random (based on inherited genotypes). A standard informational intervention will be provided to both the treatment and controls groups, reminding them of the effects of As exposure and strategies to reduce their exposure. The research question is whether the treatment group will, have a larger decrease in urine arsenic levels compared to the control group, indicating that the ROR intervention caused a change in water-seeking behavior leading to lower arsenic exposure.
Blood culture samples from bacteremia patients positive for Gram-negative bacteria will be tested for antibacterial susceptibility using Resistell Phenotech device. The results will be compared with current AST gold standard tests to calculate sensitivity, specificity, and accuracy of Resistell Phenotech device.
This project aims to assess if food choice is impacted by loss aversion (LA), and if this differs based on genetic predisposition to LA, in a UK healthy cohort.
By 2050, the expanding world population will consume two-thirds more animal protein than it consumes today. The increase in chronic diseases associated with the generalization of these consumption patterns tend to understand the place of meat in our diets. All these elements participate to the reduction of animal proteins in favor of vegetable proteins in our food. The elderly are particularly affected by malnutrition, the prevalence of protein-energy malnutrition increasing with age and promoting the onset of morbidities. Without care, it leads to the worsening of physiological phenomena linked to aging such as loss of muscle functionality (sarcopenia) or reduction in bone density (osteoporosis) and increases the risk of falls - the main cause of dependence. However, in France, protein consumption declines significantly with age, even though requirements appear to be greater for the elderly. It is therefore a major challenge for our societies to ensure that the aging of the population and the increase in life expectancy are not synonymous with a reduction in the physical and mental capacities of individuals. Thus, it is essential to ensure that the recommendations for reducing the intake of animal proteins in favor of vegetable proteins can be applied without risk to aging populations, in particular on the human body cardiovascular risk of these populations.
The participants are being asked to take part in this research study because the participant is a child who has been diagnosed with cancer and has completed genetic testing to find out if the participant has a variant in a gene that may predispose the participant to cancer, and/or the participants are the parents (i.e., guardian/caregiver) of this child. This research is being done to understand how finding out the results of genetic testing during childhood impacts the participant and family. The investigator will compare the emotions and behavior of parents and children based on the genetic testing results. Primary Objective - Examine the impact of genetic testing result disclosure for a pathogenic (P)/likely pathogenic (LP) germline variant in a known cancer predisposing gene versus negative results on parent adjustment (i.e., emotional functioning, cancer worry, symptom interpretation, and genetic testing related worry/distress). - Examine the impact of genetic testing result disclosure for a P/LP germline variant versus negative results on parenting (i.e., responses to children's symptoms, overprotectiveness, parent-child communication, cohesion, and expressivity in the family). Exploratory Objectives - Examine the impact of genetic testing result disclosure (P/LP versus negative results) on child adjustment (i.e. emotional functioning, cancer worry, self-perception, and life meaning and purpose). - Examine the impact of disclosing a variant of uncertain significance (VUS) on parent adjustment, parenting, and child adjustment. - Examine the indirect association between genetic testing result disclosure (P/LP versus negative results) and child adjustment through parental adjustment and parenting behavior. - Qualitatively identify children and parents' perspectives of how disclosure of a cancer predisposition has affected children's emotional, social, personal, and familial functioning.
Inherited bleeding disorders (IBD) consist of a heterogeneous group of diseases including coagulation and/or platelets defects and more rarely vascular dysfunctions. A family of four patients suffering from unexplained excessive bleeding has been followed clinically in France for many years. Recently, whole exome sequencing (WES) of DNA allowed the identification of a heterozygous genetic variant which segregated to family members with bleeding diathesis. The aim of the study was to better characterize the phenotype by studying VWF and platelets in affected family members ultimately contributing to the pathogenesis of a bleeding diathesis.
This study investigates the association of genetic effects of rs7903146 and dietary intake on type 2 Diabetes Mellitus (T2DM) risk in a healthy population. T2DM risk was assessed through glycated haemoglobin (HbA1c) concentration in 73 subjects. Dietary intake was assessed using a validated food frequency questionnaire (FFQ).
The primary objective of this study is to establish differences in susceptibility to SARS CoV-2 infection among health care workers (HCW) highly exposed to patients with COVID-19 diagnosis. To ascertain this issue, we evaluated: - Changes in receptor polymorphism (ACE2 and CD26 receptor study. - SARS-CoV-2 CD4/CD8 T cell response (CTL) - Different KIR phenotypes
The Jewish Population is at an increased risk for genetic diseases, especially autosomal recessive, thus, screening should be done to determine carrier status of several genetic diseases. In the Mexican Jewish Community, which is a very diverse community (regarding geographical origins), data of carrier status is unknown. The study aims to determine carrier prevalence for over 300 diseases using commercially available panels.