Active clinical trials for "Genetic Predisposition to Disease"

To define the genotype of a healthy Egyptian cohort as a crucial step in determining the possible clinical implications of mutations detected in patients recruited in the registry.

Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels. They want to collect data and specimens from affected people, their family members, and healthy people. Objective: To study diseases of the heart and/or blood vessels. Eligibility: People age 2 and older who may have genetic disease affecting the heart and/or blood vessels Their relatives Healthy volunteers Design: Participants will be screened with a medical history, physical exams, and imaging tests. Participants may have a few visits or visits for 2 weeks or more. This will depend on their age and disease status. Visits may include: Photographs of the face and body Heart tests Samples taken of blood, urine, saliva, skin, and/or tissue Scans. For some, a dye may be injected into a vein. A six-minute walk test Lung tests. For some, participants will blow into a tube. For others, they will breathe in a gas from a mask, have a small injection, then have a scan. Stress tests while walking on a treadmill or riding a stationary bike Ultrasound of veins and arteries Devices outside the body testing the stiffness and function of arteries Eye exam and eye tests. For some, a dye may be injected in a vein. Blood pressure tests Measurements of blood flow under the skin and in the arms and fingernail blood vessels Devices outside the body testing flexibility of the blood vessels and skin, and skin temperature

Acute stress-induced (takotsubo) cardiomyopathy or broken heart syndrome presents like a heart attack, classically is triggered by intense emotional or physical stress and can have serious health consequences. In the current study the investigators wish to establish whether there is a genetic predisposition making certain people more susceptible to this condition. This could also have implications for their families.

The objectives of the GECCOS project are to identify genetic variants associated with complications of childhood cancer using genotype-phenotype association studies. Germline genetic samples and data of the "Germline DNA Biobank for Childhood Cancer and Blood Disorders Switzerland" (BISKIDS) which is included in the Geneva Biobank for Hematology and Oncology in Pediatrics (BaHOP) will be used with clinical data of Swiss childhood cancer patients collected at the Institute of Social and Preventive Medicine in Bern.

This study aims to identify genetic causes of adverse events after cardiac surgery, such as atrial fibrillation, myocardial infarction, renal dysfunction and heart failure. Patients undergoing heart surgery at Brigham and Women's Hospital and Texas Heart Institute are eligible to participate.

The study of biological profiling is of fundamental importance in the diagnosis and treatment of many diseases, particularly oncological ones, and for this reason, the integration of molecular characterization into clinical practice becomes essential. NGS allows a high number of samples to be sequenced simultaneously, generating a great deal of genomic information in a short time and at reasonable cost. This information is of fundamental importance for the study of oncogenic drivers and gene alterations that may have a prognostic and/or predictive role in response to new molecularly targeted drugs. Policlinico A. Gemelli has begun a process of internal reorganization of the research infrastructure following its recognition in 2018 as an Institute of Hospitalization and Treatment with Scientific Character (IRCCS) for its commitment to the disciplines of "Personalized Medicine" and "Innovative Biotechnology." In particular, with regard to genomics, will be equipped with a state-of-the-art technological asset that includes a fully automated process for sample preparation and the highest gene sequencing power available today. This condition makes it possible to perform extensive genomic profiling for large numbers of patients at low cost and in reasonable time.

The Helix Research Network ("HRN") is a network of academic, public, and/or private healthcare organizations that are committed to advancing medical research and improving human health through large-scale genomics research and acceleration of the integration of genomic and other omics data into clinical care.

To evaluate an alternative clinical genetics cancer care delivery model, using non-genetic providers to introduce and order genetic testing. 250 prostate and 250 pancreatic patients will be recruiting. They will undergo genetic testing and complete study questionnaires. Results from this pilot study will be used to inform the strategies used by the Clinical Risk Evaluation Program (CREP) Genetic Counelors (CGS) and GI/GU physicians to deliver genetic testing and return genetic risk information to patients with prostate or pancreatic cancer.

The MiDiSeq project will enroll 20 unresolved index patients with suspected mitochondrial disease prioritized for genomic analysis.

The GE-MED APPROACH project will enroll patients (n = appr. 12.000) with unclear molecular cause of the disease, suspected genetic cause of the disease without detailed molecular analysis like Whole Exome Sequencing (WES). The novelty of this study is to integrate genomic health concepts into immediate clinical care. To achieve these goals, a novel structure for the Triple P (3P) concept of personalized medicine (Personalized, Predictive, Preventive) integrated into a well-established health care system and associated with novel decentralized Disease Analysing Task Forces (DATF) will be implemented. The overall goal of this study is to implement, for the first time, Whole Genome Sequencing (WGS) analysis as a first line diagnostic test for all clinical indications such as Rare Disease (RD )and familial cancer syndromes.