Active clinical trials for "Genetic Predisposition to Disease"

A case-control study to identify microbiome and genetic differences between healthy subjects and patients with incident Parkinson's disease.

This is a retrospective, proof of concept study, which aims at reconstructing the cellular heterogeneity of the tumor in multi-needle diagnostic prostate biopsy as well as any biopsy containing potentially pre-malignant tissue, to study its implications in the clinical history of the disease. For each patient, 2 or more samples will be prepared starting from the FFPE diagnostic material. The biopsy used for assigning the Gleason score will be sequenced, together with two or more of the local peri-proximal biopsies with a higher level of differentiation. Samples will undergo Whole Exome Sequencing with an average coverage of 300x at the Wellcome Sanger Institute (WSI, Hinxton, UK). Sequencing data will be analysed for single nucleotide variants, copy number variants and structural variants by using state-of-the-art data analysis pipeline at WSI. Reconstruction of local PCa heterogeneity in multi-needle diagnostic biopsy with different Gleason scores (6-10) using high-coverage whole exome sequencing (WES) and DP-based clonal analysis; Characterization of the relationships between pathological differentiation (Gleason score) and genomics-measured heterogeneity and malignancy features; Assessment of clinical implications of clonal heterogeneity. The study will include an average of 150 prostatic diagnostic biopsies from a cohort of 20 early metastatic PC patients and 20 non-relapsing/non-metastatic patients with indolent malignant disease.

This is a prospective case-control physiopathological study, which main objective is to determine the genetic host factors predisposing to candidemia. Secondary objectives are to develop new diagnosis tools using the biological collection, to describe and update epidemiology, to analyse the influence of genetic polymorphisms on prognosis.

An observational study was conducted in a health examination center to distinguish risk factors for health in a randomly recruited volunteers of Chinese population.

Nausea and vomiting affects 25-30% of individuals in the post-operative period and can reach more than 70-80% in high-risk patients. inherited factors may play a significant role in individual susceptibility and clinical research on hereditary factors involved in the pathogenesis of Postoperative nausea and vomiting (PONV) and chemotherapy nausea and vomiting (CINV) is relatively new. The aim of this study is to investigate whether inter-individual differences related to PONV are associated with genetic factors. 300 patients will be evaluated in postoperative oncological surgeries. The peripheral leukocyte DNA will be extracted by the Salting Out Procedure method and processed to genotyping for 48 SNPs from 15 candidate genes by real-time PCR by the Taqman method. The possible associations with demographic data and factors related to surgery will be analyzed by univariate and multivariate analysis.

This study could help identify aggravating or protective genetic polymorphisms associated with cerebral palsy. Populations of premature babies at different risk of cerebral palsy could thus be individualized with an impact on their monitoring and on the pathophysiological understanding of the processes leading to neurological lesions.

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.

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.

This will be a prospective diagnostic trial of screening for prostate cancer among men with genetic predisposition.

Background: - The purpose of this study is to identify changes in genes that cause human diseases. We would like to obtain some of you or your child s DNA and test for changes in genes that may contribute to a disease in you or your family. Objective: -To allow for exomic or genomic sequencing of NICHD patients or family members in order to identify changes in genes that cause or contribute to a specific disease. Eligibility: Children who are enrolled in an NICHD clinical study where the condition being studied may have a genetic cause. Family members of a child who is eligible for this study. Design: Children and family members will supply DNA samples. If the samples are already available, no further DNA will be needed. If DNA is not available, samples of either blood or skin will be taken. We will use these samples with new DNA sequencing technology that looks at all the human genes we know about. This is known as exome and genome sequencing.