View clinical trials related to Disease Susceptibility.
Filter by:The GENOME + project will enroll patients (n = ca. 100) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and previous detailed molecular analysis like Whole Exome Sequencing (WES) did not lead to the identification of the disease causing mechanism. As well healthy parents of those affected for trio analysis (exception of one parent is not available for the study).
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.
This is a prospective, single-center, clinical study.This study is to evaluate the feasibility of genetic susceptibility screening based on the detection of tumor tissue mutations by a NGS panel.
This is a community-based prospective study and the research object is breast cancer patients. It is planned to take the community as the unit to inform and collect the breast cancer patients who voluntarily participate to carry out the detection of BRCA1, BRCA2, PTEN, CHEK2 and PALB2 genes through the community health service center.
The "COVID-19 infection self-test and alert system" (hereinafter referred to as "COVID-19 self-test applet") jointly developed by Beijing Tsinghua Changgung Hospital, Institute for precision medicine, artificial intelligence of Tsinghua University was launched on February 1，2020. Residents , according to their actual healthy situation, after answering questions online, the system will conduct intelligent analysis, make disease risk assessment and give healthcare and medical guidance. Based on the Internet population survey, and referring to the diagnosis and screening standards of the National Health Commission of the People's Republic of China, investigators carried out the mobile applet of Internet survey and registry study for the Internet accessible identifiable population, so as to screen the suspected population and guide the medical treatment.
In running 70% of the lower limb, injuries are produced in the running segment. The vast majority of sports-related musculoskeletal injuries in young athletes are caused by overuse. Previous research has shown a clear association between running-related injuries and kinematic patterns, showing the existence of a causal relationship between biomechanical alterations and injures. According to the evidence, that real-time visual and auditory feedback based on gait retraining should be considered to treat injured runners or prevent injuries. However, no previous studies have been carried out on whether gait retraining decreases running-related injuries incidence in young triathletes. The investigators propose a study to determine the effect of gait retraining on the decrease in the number of running-related injuries and improve the running efficiency in young triathletes.
Studies have shown that the effect of fat mass and obesity-associated (FTO) gene on obesity is modulated by lifestyle factors. Hence, we aimed to determine whether two single nucleotide polymorphisms (SNPs) in the FTO gene are associated with obesity and to assess whether these associations were modified by lifestyle factors. The study included 200 obese and 200 non-obese individuals from Turkey. Our study suggests that the effect of the SNPs on obesity traits is likely to be influenced by lifestyle factors in this Turkish population.
The overall goal of this research is to help develop a new magnetic resonance (MR) method, Quantitative Susceptibility Mapping (QSM), to improve the measurement of liver iron concentrations without the need for a liver biopsy. Measurement of liver iron is important to diagnose and treat patients who have too much iron in their bodies (iron overload). Liver iron measurements by current MRI methods (R2 and R2*) can be inaccurate because of the effects of fat, fibrosis and other abnormalities. QSM should not be affected by these factors and should be free of these errors. In this study, MRI measurements (QSM, R2 and R2*) of iron in patients before liver transplant will be compared with chemical analysis of iron in liver explants (livers removed from patients undergoing liver transplant). The liver explants would otherwise be discarded. Investigators expect that this study will show that the new MRI method, QSM, is superior to the current MRI methods, R2 and R2*.
Prospective cohort study to evaluate the feasibility and acceptability of using standardized educational and communication tools to assist in communication of genetic test results to family members. A pre and post test will be administered to consented patients before and after genetic counseling .
40-70 healthy volunteers of ages 18 to 65 participate in a E-EPA-diet where 3,9 grams of E-EPA is added to their normal diet and lifestyles for a month. Blood samples will be collected before the study and at weeks 1 and 4 and also, two weeks after finishing the diet. Main study focuses are LDL aggregation susceptibility, lipid composition and proteoglycan binding affinity. In addition, important plasma lipid metabolism enzymes and lipid mediated resolvins are measured as well as several baseline characteristics.