View clinical trials related to Hereditary Diseases.
Filter by:The purpose of the study is to improve the prognosis of inhereditary cholestasis caused by ABCB11 gene mutations by using BSEP function rescue drugs
UPTIDER is a prospective, interventional, non-Investigational Medicinal Product (non-IMP), non-commercial, single centre post-mortem tissue donation program for metastatic breast cancer patients or patients with a germline pathogenic variant with a moderate to high lifetime risk of breast cancer and at least one malignancy at time of death. The overarching objective of UPTIDER is (i) to unravel metastatic breast cancer evolution, biology, heterogeneity and treatment resistance and (ii) to assess pathogenicity and tumour biology in hereditary cancer syndromes with a high lifetime risk of breast cancer; both through extensive post-mortem multi-level and multi-region sample analysis.
This study intends to determine the patients' perception and motivation to obtain additional information on their preimplantation embryos' risks of polygenic disorders. Patients undergoing IVF and genetic testing on their embryos for aneuploidies will be given the option to obtain information of their embryos' polygenic disease risk after receiving genetic counseling.
The study of hereditary cancer related syndromes allows reducing the risk of suffering in cancer to patients and close relatives. The objective of this study will be to evaluate the prevelance of psychological morbidity in patients attended at cancer genetic counselling unit, and to determine the socio-demographic and clinical factors that influence it. A descriptive cross-sectional study will be carried out. Patients attented at the cancer genetic counselling unit, who have criteria for conducting a genetic syndrome test related to hererditary cancer, will be consecutively evaluated. To knowing the psychological morbidity it is relevant to providing care for these patients.
Inbreeding and consanguineous marriages are known to increase the risk of autosomal recessive disorders. The aim of this study was to examine the association between consanguinity and kidney diseases in the adult Turkish population.
Type 2 diabetes (T2D) is an emerging epidemic in sub-Saharan Africa, with an estimated prevalence of 6%. With around seven million cases of T2D in 2000, it is anticipated that over 18 million Africans will have the disease by 2030. In South Africa the prevalence of T2D in people of African descent has been reported to be between 3-10%. However, there have been limited studies on diabetes epidemiology in South Africans using currently employed World Health Organization (WHO) criteria. To assess the burden of T2D and associated risk factors in South Africa, we are establishing the Durban Diabetes Study (DDS) - a population-based cross-sectional study in the city of Durban (the eThekwini municipality) to be undertaken in 1,200 participants of African descent. In-depth health questionnaire responses, biophysical measurements and blood and urine samples will be gathered from these participants. These data will allow researchers to estimate the population prevalence of T2D and associated risk factors in the region. The infrastructure created for this cross sectional study has the potential to serve as a strong framework for future research initiatives and public health interventions within the region.
The goal of this research study is to create an internet-based program designed to improve the communication of health and health history information among family members affected by Lynch syndrome.
This is a Prospective Phase II Study to evaluate Cord Blood Transplantation in Inherited or Acquired Severe Aplastic Anemia Refractory or in Relapse after Immunosuppressive Therapy in the absence of an HLA identical donor;
After extraction of the cell-free DNA circulating in maternal plasma, we aim at developing new techniques for fetal DNA enrichment to perform fetal gender determination, and indirect diagnosis of inherited diseases like Cystic Fibrosis, Huntington Disease, Myotonic Dystrophy, B-Thalassaemia...
This study will investigate the cause and natural history (medical problems that appear over time) of certain genetic disorders. It will also try to locate the abnormal genes responsible for these conditions and eventually develop tests to predict who is likely to be affected and to what degree. Patients with known or suspected genetic disorders in certain categories, such as those involving chromosomal or metabolic abnormalities, immune system or blood disorders, abnormal growth, benign tumors, and others may be eligible for this study. Participants will be interviewed by specialists in genetics about their condition and family history. They may also be asked to have a physical examination and certain tests needed for study of the specific individual's condition. These may include collection of blood samples (up to 3 tablespoons); imaging studies, such as computerized tomography (CT), magnetic resonance imaging (MRI), ultrasound and echocardiography; skin biopsy (removal of a small sample of skin tissue under local anesthetic), and other procedures. DNA testing may reveal the genetic abnormality responsible for the disorder. Participants who so wish will have an opportunity to talk with experts about the health implications of the test results. This study may provide information that will lead to improved treatment or management of these inherited disorders, as well as more effective genetic counseling for families.