View clinical trials related to Genetic Diseases, Inborn.
Filter by:Genetic Epidemiology : is quickly expanding research field concerned with considerate the heritable aspect of disease risk, individual propensity to disease and eventually with contributing to a complete molecular understanding of pathogenesis. Genetics : is the scientific study of genes &heredity of how certain qualities or traits are passed from parents to offspring as a result of changes in DNA sequence . A gene is a segment of DNA that contains instructions for building of one or more molecules Genetic disorders: is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. (1)mutations: affect the human genes either inherited from one or both parents or due to certain environmental factors Four of the main types include:(1)Single _gene inheritance diseases :Single gene inheritance diseases are diseases that occur because one defective gene is present. They are known as monogenetic disorders.(EX:Marfan Syndrome ) (2)Multifactorial genetic inheritance disorders : Genetic disorders may also be complex, , meaning they are likely associated with the effects of multiple genes in combination with lifestyles and environmental factors. Multifactorial disorders include heart disease and diabetes. (3)chromosomal abnormalities : result from a problem with cell division and arise because of duplications or absences of entire chromosomes or pieces of chromosomes. Examples of chromosome abnormality disorders include(Down sydrome ) (4)Mitochondrial genetic inheritance disorders : are caused by mutations in the DNA of mitochondria, small particles within cell. Mitochondrial DNA is always inherited from the female parent since egg cells (unlike sperm cells) keep their mitochondrial DNA during the process of fertilization. Environmental Factors: called (mutagens)which can lead to genetic mutations Such as Chemical exposure , Radiation exposure , Smoking , UV rays exposure from the sun prognosis Of genetic disorders: Not all genetic disorders directly result in death, there are no known cures for genetic disorders. Many genetic disorders affect stages of development, such as Down syndrome, while others result in purely physical symptoms such as muscular dystrophy. Other disorders, such as Huntington's disease, show no signs until adulthood. .Treatment of genetic disorders: The treatment of genetic disorders is an ongoing battle, with over 1,800 gene therapy clinical trials having been completed, are ongoing, or have been approved worldwide, Despite this, most treatment options revolve around treating the symptoms of the disorders in an attempt to improve patient quality of life. Diagnosis of genetic disorders: (1)personal medical history :information about an individual health often going back to birth can provide clues to a genetic diagnosis (2)physical examination :certain physical characteristics , such as distinctive facial features can suggest the diagnosis of a genetic disorder , a geneticist will do a through physical Examination that may include measurements such as head circumference and so on . (3) Family health history :because genetic conditions often run in families , information about the health of family members can be a critical tool for diagnosing these disorders . (4)Laboratory Tests :including genetic testing , molecular , chromosomal , and biochemical genetic or genomic testing are used to diagnose genetic disorders. Genetic counselling is a communication process, which aims to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions. Patients With History Of TORCH: Bad Obstetric history (BOH) implies previous unfavorable foetal outcome in terms of two or more consecutive spontaneous abortion, history of intrauterine foetal death, intrauterine growth retardation, still births, early neonatal death and/or congenital anomalies. Cause of BOH may be genetic, hormonal, abnormal maternal immune response and maternal infection.
This study is a multi-center, retrospective and non-interventional research. In this study, a total of 150 short children who were small for gestational age and had been treated with recombinant human growth hormone (rhGH) are selected for genetic testing. The aims of this study are to analyze the genetic etiology of SGA children with short stature, and to compare the efficacy and safety of rhGH treatment in subjects with different etiologies.
According to french recommandations for IUGR management we have to propose a CGH-array analysis if the IUGR is severe (bellow the 3rd percentile) and early (in the second trimester). However there is no data to support this point of view.
The DGA provides an end-to-end digital solution to the preconception carrier screening process from participant registration to receipt of the test results and their interpretations. These steps are provided using personalized animated videos.
The project aims to improve the understanding of a significant group of rare diseases both from a genetic/diagnostic and clinical/experimental point of view and aims to develop one or more diagnostic protocols. The study will be conducted through the application of complementary experimental strategies, ranging from the clinical, genetic and molecular characterization of the pathology to the search for rare variants and the development of cellular disease models.
The DGA provides an end-to-end digital solution to the preconception carrier screening process from participant registration to receipt of the test results and their interpretations. These steps are provided using personalized animated videos.
The advent of high throughput genomic DNA sequencing has led to major advances in the diagnosis of genetic diseases of heterogeneous origin. Thus, our hospital laboratory has developed in recent years several diagnostic tests based on the targeted sequencing of coding sequences of gene panels (from about twenty genes for DNA repair diseases to nearly five hundred genes for the intellectual disability). These targeted analyzes, carried out by capture, have thus solved 25 to 80% of the cases according to the indications, without allowing the diagnosis of the totality of the patients. For these negative cases, the search for mutations in the coding sequences was then extended to Whole Exome Sequencing, thus providing several additional diagnoses. Patients still remain without diagnosis after this exome study. These could be complex cases of genetic or even non-genetic origin, but also monogenic pathologies linked to mutations that are not identifiable by coding sequence analyzes, and especially affecting messenger RNAs.
Rare systemic auto inflammatory diseases are a group of diseases that can be inherited and have non specific symptoms (fevers, rashes, joint pain, etc.). These diseases can be divided into two groups: - Diseases for which genetic mutations have been identified - The so-called genetically undetermined diseases for which no genetic mutation has been identified and for which the diagnosis is based on the elimination of other causes of disease At present, the causes and mechanisms of these diseases are poorly understood and their diagnosis is difficult, often leading to misdiagnosis. The usual care integrates anti-inflammatory treatments (aspirin, colchicine, cortisone, biotherapies, etc.) and support for patients and their families by health professionals (doctors, nurses, physiotherapists, etc.). To date, a patient with one of these diseases can receive up to 5 inappropriate or ineffective treatments before the right diagnosis is made and the right therapy is put in place. The objective of this study is to develop rapid and effective diagnostic methods for these diseases by the identification of biological markers present in blood, urine or stool of patient in order to develop a rapid and efficient diagnostic method.
Recent advances have shown that cells from human blood, skin and urine samples can be reprogrammed to become stem cells. These are called induced Pluripotent Stem Cells (iPSCs) and share many characteristics with embryonic stem cells, including an unlimited capacity for proliferation and the potential to become any cell in the body. Beneficially, the use of iPSCs avoids the ethical difficulties which surround embryonic stem cells and allows generation of iPSC lines which are disease representative. For example, we could take skin samples from an individual diagnosed with Huntington's disease and their unaffected sibling and using this technology, generate iPSC lines from both individuals. Using these iPSCs, we could produce disease affected cell populations from the affected and unaffected individuals, use these cells to research why specific cell populations are affected by disease and test new treatments to combat disease progression, essentially producing a 'disease in a dish'. This is just one example of many for which this technology could be applied. We can also utilise gene-editing techniques to generate isogenic controls or insert disease related mutations to assess disease phenotype. Although generation of iPSC lines has been robustly proven across multiple disease backgrounds, many aspects of their downstream use still remain to be determined. Particularly, robust protocols for directing iPSCs towards cell fates such as neurons or blood cells must be developed to fully realise application of iPSCs in disease modelling and drug screening. This study involves the collection of human blood, skin or urine samples from subjects bearing a range of genetic diseases alongside those from individuals who have not been diagnosed with a disease, as controls. These samples will be used to generate iPSC lines for development of differentiation and disease phenotyping protocols.
Heart failure (HF) is a continuously growing public health problem. The study aim to provide novel insights into the role of amino acids in pathogenesis of heart failure, to obtain a better understanding of cardiac ryanodine Receptor 2 role as an essential player in excitation-contraction coupling in pathogenesis of heart failure and clarify the potential value of these markers as targets for heart failure therapy