View clinical trials related to Genetic Predisposition.
Filter by:The purpose of this study is to use multi-omics testing on samples collected from Mayo Clinic patients to build and expand on what has been learned about genomic data.
Genetic cardiomyopathy is increasingly recognised and can lead to heart failure, arrhythmia and sudden cardiac death. Some gene positive patients have rapidly progressive disease with high rates of heart failure and cardiac transplantation, while others present with SCD. Other gene positive patients will never develop cardiomyopathy. At present, we cannot distinguish between these groups and rely on expensive and labour-intensive surveillance by electrocardiography, echocardiography and sometimes cardiac magnetic resonance imaging. This study will investigate existing and novel biomarkers (including blood, urine electrocardiographic and imaging) at various stages of disease in patients with a personal or family history of TTN, MYBPC3, LMNA, FLNC or DSP gene variant, which are known to cause cardiomyopathy.
Create a multicenter prospective registry that collects information from women affected by acute coronary syndrome (ACS). This registry aims to understand the diversity in the presentation of women with ACS. It proposes to conduct a thorough characterization of the women involved in the study through genetic, biochemical, and molecular analysis.This approach aims to identify any differences in the characteristics of women with ACS and to identify disease subtypes that may influence treatment options and clinical outcomes.
The goal of this clinical trial is to learn about different ways cancer genetic screening can be provided to rural communities in participants at high risk for certain cancers. The main question it aims to answer is: • Does receiving pre-genetic test education with a chat bot or genetic counselor affect if the participant decides to get genetic testing? Participants will: - have a pre-test genetic counselling session with a genetic counselor or the GIA chatbot - answer questions about their cancer genetic knowledge and how they are doing - provide a saliva sample for genetic testing to test for cancer gene mutations - have their genetic testing results provided to them. - have the option to share their genetic testing results with family members Researchers will compare how many participants who had pre-genetic counseling with the chatbot received genetic testing to how many participants who had pre-genetic counseling with a genetic counselor received genetic testing.
The study aims to comprehensively introduce Long-read Genome sequencing (LR-GS) based genetic testing into clinical routine. In order to demonstrate the superiority of untargeted LR-GS over Short-read Genome sequencing (SR-GS) to establish firm genetic diagnoses, the investigators will rely on a multi-center "Translate Nationale Aktionsbündnis für Menschen mit Seltenen Erkrankungen" (Translate National Action Alliance for People with Rare Diseases Germany, TNAMSE) cohort of unsolved patients with neurological, neurodevelopmental, and imprinting disorders that is expectedly enriched for complex genomic variation. Within the framework of genomDE, the investigators will then implement, for the first time, LR-GS in the diagnostic work-up of a prospective cohort of patients with a broad range of clinical indications including rare diseases and cancer predisposition.
Clinical information and samples (blood, saliva, and tumor) will be collected from patients with multiple cancers and/or a family history of cancer as well as from affected and unaffected relatives; samples will be systematically sequenced and evaluated for candidate driver mutations.
The main objective of the pilot phase of PGLEXPO will be to assess the faisability and to precise methodology of a case-control study designed for testing the impact of environmental and professional exposures on the tumoral risk in SDHx-mutation carriers
Atrial fibrillation (AF) is the most frequently encountered cardiac arrhythmia. Emerging data suggests that common genetic variants are associated with the development of AF. The main feature of the structural remodelling in AF is atrial fibrosis and is considered the substrate for AF perpetuation. Genome-wide association studies suggest that AF-susceptibility variants may modulate atrial fibrosis. However, the association between atrial fibrosis and genetic polymorphisms in humans has not yet been specifically investigated. In this study, we plan to investigate the relationship between genetic polymorphisms, atrial fibrosis and other components of thrombogenic substrate in patients with non-valvular AF. Primary objectives of this study are to assess associations between (i) polymorphic genetic variants and atrial fibrosis (detected by magnetic resonance imaging), (ii) polymorphic genetic variants and components of thrombogenic substrate (inflammation, endothelial function, prothrombotic state, atrial functions).