Active clinical trials for "Genetic Predisposition to Disease"

The main aim of this study is to establish disease-oriented biobank to facilitate research in biology of the lumbar disc degeneration. Diverse biological samples (whole blood, plasma, disc tissue) along with MRI imaging, clinical, socio-demographic and various omics data (e.g. genomic and transcriptomic) will be available for researchers and clinicians for a variety of further multi-omics studies. It will lay the groundwork for the development of early diagnostics of DDD and its personalized treatment. The study is planned to enroll up to 1,100 patients with different grades of lumbar disc degeneration. It is planned to recruit patients within 36 months.

Testing children, adolescents, and young adults (CAYA) for a genetic risk for cancer can help with early prevention and detection of cancers through regular follow-ups and medical care. After receiving genetic test results, CAYA may not accurately understand what their results mean, and parents are often unsure about talking with their CAYA about their genetic risk for cancer. By understanding how parents communicate with their CAYA, the investigators can improve future genetic education to reduce cancer risk. Primary Objectives: Identify qualities of parent-CAYA (child, adolescent, and young adults) communication about CAYAs' genomic cancer risk, and their association with CAYAs' psychosocial and prevention outcomes. Examine the association between sociodemographic, cancer-related, and psychosocial factors and parent-CAYA communication regarding CAYAs' genomic risk for cancer. Identify barriers and facilitators of parent-CAYA communication regarding CAYAs' genomic risk for cancer.

Women with breast and/or ovarian cancer or with a family history carried these pathologies can makeo genetic counseling in order to investigate whether they are carriers of the BRCA1/2 genetic mutation. This mutation exposes them to develop breast cancer from 50 to 80% and from 27 to 65% of developing ovarian cancer. BRCA1/2 mutations are inherited as an autosomal dominant manner and therefore there is a 50% probability of transmitting the mutation to the progeny. For this reason, women who have BRCA 1/2 mutation may be less likely to want children than those who test negative. The decision to have children could worry both for the probability to transfer the genetic mutation or because the parenthood could be compromised by the illness and/or by premature death. In previous studies, the psychological condition of patients with BRCA 1/2 mutations, with or without children, was only partially investigated. For this reason the main goal of the study is to deeply investigate the specific psychological condition, with particular attention to the guilt feelings on the possibility to transfer the genetic mutation to the progeny. In this wai it could be useful to development a therapeutic strategies aimed at the best adaptation of the patients to the new health condition.

This is a prospective observational multi-center pilot study of germline testing for participants receiving care at University of California participating locations with a new or existing diagnosis of Pancreatic Neuroendocrine Neoplasms (PanNEN). This protocol is an extension of existing Genetic Testing Station efforts at University of California, San Francisco (UCSF)

This Study is designed to assess CVD incidence, prevalence, progression and related risk factors, including genetic background. It will provide an important base for all cardiovascular research activities in our centre and help in designing future studies and guide policy.

The investigators propose to genotype males and females at age 40 years and older, who are asymptomatic and without known heart disease (N=2000). DNA from a blood sample will be genotyped for millions of genetic risk variants for CAD by Baylor College of Medicine Human Genome Sequencing Center Clinical Laboratory (HGSC-CL) in a CLIA-approved laboratory. The overall objective after 2 years is to determine if genetic screening for risk of CAD in asymptomatic men and women has the discriminatory power to detect those at highest risk who would potentially benefit most from appropriate primary prevention. It will also determine whether the GRS is appropriate for different ethnic and race groups such as Hispanics, African Americans and Whites, and to what extent those individuals knowing that they are at higher risk, are more likely to seek further advice on management of the risks (either through changes in lifestyle or therapy).

This study will provide rigorous evaluation of implementing a virtual genome center into community clinical settings without highly specialized resources, thereby offering generalizable insights as to how best to implement genomic medicine at scale and for other age groups. This intervention has great potential to address disparities in genomic medicine among low-income and underrepresented minority (URM) populations and will enhance capacity for providers and health systems to utilize highly specialized genomic techniques in their communities. The goal of this study is to achieve equitable access to state-of-the-art genomic medical care to sick newborns in community centers that predominately care for low-income and racial/ethnic minority populations through the creation of a virtual genome center (VIGOR). VIGOR will provide a venue for physician and family education, genomic expert consultation, reanalysis of unsolved sequencing data, and access to cutting edge therapeutic innovation, thereby facilitating institutionalization of genomic best practices in community settings, and not just highly specialized referral centers.

The goal of this observational study consists of performing cluster analysis to decipher underlying disease mechanisms of type 1 diabetes in children and young adults. To this end, we will combine clinical, laboratory, genetic, transcriptomic, and metabolomic datasets of an extensively phenotyped cohort of children and young adults with type 1 diabetes. We will also assess the risk for cardiovascular diseases in this most vulnerable diabetes cohort.

The main objective of this study is to apply a well-established model of developmental surveillance (which evolved to characterize the outcomes of very low birth weight infants) to infants with genetic disorders. A novel clinical model for infants with rare genetic disorders has been created as a joint initiative between the Division of Newborn Medicine's NICU Growth and Developmental Support Programs (NICU GraDS) program and the Division of Genetics at Boston Children's Hospital (BCH). This study plans to enroll patients with genetic syndromes seen in this clinic into a prospective, longitudinal study in order to characterize their developmental profiles and needs.

The DiRiP study will enroll patients (n = 3500) with unclear rare diseases and suspected genetic reasons. In group 1 (n = 500) subjects are clinically characterized in the context of outpatient/ inpatient standard care at the UKT or cooperating location, NGS analyzes and other omics analyzes (transcriptomics, proteomics, metabolomics), functional cell biology studies will be performed. In group 2 diagnostics is already performed. The DiRiP-study fully integrates with the newly formed European Reference Networks (ERNs) for rare diseases, and in particular the ERN-RND, -EURO-NMD, -ITHACA, and -GENTURIS.