Active clinical trials for "Genetic Diseases, Inborn"

The study will involve up to 30 pairs of male and female sexually intimate partners who are carriers for a genetic disease (e.g Sickle Cell Disease or Thalassemia) and at high risk of transmitting the gene. The female partner will be superovulated to mature multiple oocytes which can be fertilized, inseminated with her partner's sperm through intra-uterine insemination (IUI). Four to six days after IUI, the female partner will undergo a non-surgical uterine lavage procedure to recover preimplantation embryos.

Preimplantational genetic screen (PGS) is tool for diagnosis of embryo chromosome abnormality before transfer. Under this tool, patients with a family history of genetic disease or special genetic disease could avoid to produce chromosomal abnormalities of the next pregnant. This study is a retrospective study, data collection from 2001 Jan. to 2015. Nov. Patients underwent PGS and data including the couples age, infertility factors, stimulation protocols, medicine records, embryo quality records and blood tests were collected in this study. Analysis the relationship between outcomes of PGS, clinical outcomes and embryo quality is performed and further to find a diagnosis reference for clinical care.

The investigators propose to analyze a brain sample and/or peripheral blood by single cell RNA seq from aborted embryos with ASNS mutation.

This is a pilot study involving a prospective group of 15 evaluable patients who will undergo rapid whole genome sequencing in addition to standard of care testing. Subjects will be drawn from children admitted to the NICU at OSF Health Care Children's Hospital of Illinois who meet inclusion criteria. The aims of this study are to evaluate the turn-around time and cost of performing rapid whole genome sequencing (rWGS) compared to standard of care in the diagnosis of genetic disorders among critically ill infants in a regional children's hospital and to describe management outcomes of utilizing rWGS in acutely ill patients less than four months of age.

Studies have shown that the risk of developing heart arrhythmias, is increased in patients receiving medication for Attention-deficit hyperactivity disorder (ADHD) and depression. The QT-interval on a electrocardiogram (ECG) is often used to assess the patients risk of developing heart arrhythmias. The QT-interval defines the hearts electrical resting period and a long interval is linked to an increased risk of developing heart arrhythmias. In this project the investigators wish to examine possible side-effects in patients receiving medication for ADHD and depression and their dynamic QT-interval changes, by analysing the ECG changes that occur during "Brisk Standing".

Background: Disturbances of the heart's atrioventricular conduction - AV-block - may show by shortness of breath, fainting or sudden death. If AV-block is diagnosed in time pacemaker therapy may be lifesaving. AV-block in younger can be seen along with structural or ischemic heart disease, congenital heart disease (incl. congenital AV-block) storage disorders, specific muscle diseases, sarcoidosis, Borrelia infection or drug intoxication. AV-block in younger can also be seen in conditions, primarily localized to the AV-node without other cardiac disease at diagnosis. This form of AV-block is often hereditary and can be seen in families where relatives have another types of heart disease in form of fore example, cardiomyopathy, ion channel disease or sudden death. The different forms of presentation are due to the same gene mutation being expressed differently within the same family. Thus, early onset of AV-block (<50 years) may indicate hereditary AV-conduction disorder but it can also be the first manifestation of severe ion channel disease or cardiomyopathy. Denmark has annually over 50 individuals <50 years treated with pacemaker due to advanced AV-block. There have been no overall figures regarding the causes of advanced AV-block, and therefore no systematic approach to diagnosing this group of patients. Furthermore, the prevalence of individuals with a genetic cause of AV-block is unknown and presumably an often overlooked diagnosis among younger patients with advanced AV-blok. There are no data on disease progression after diagnosis, and therefore there is no evidence-based knowledge about how these patients should be followed after diagnosis. With modern gene technology, a range of new, yet unknown genes with potentially pathogenic mutations is likely to be identified. Identification of such genes, and the development of a strategy for systematic approach to diagnose younger patients with AV-block, will enable presymptomatic genetic screening of relatives and implementation of evidence-based, preventive treatment with pacemaker and/or medical treatment for heart failure based on a specific genetic predisposition for development of AV-block with or without heart failure. Hypotheses: In a significant proportion of younger patients with advanced AV-block the underlying cause is unknown. Objective: To investigate the prevalence and causes of advanced AV-block in younger patients in Denmark and describe the current diagnostics. Method: The study is a cross sectional study. The patients for this study are identified from Danish Pacemaker and ICD Register. The investigators will review medical records and obtain clinical information and test results (see detailed description). Perspectives: This study is the first part of a large study of AV-block in younger patients in Denmark. The overall goal, is to increase knowledge about the causes of and disease progression after the diagnosis of advanced AV-block in young patients which could lead to a significant improvement in the treatment of this patient group and may lead to a customized choice of pacemaker type in the future and perhaps additional medical treatment in this patient group. This could potentially lead to a reduction in both their morbidity mortality.

The Genomic Sequencing for Childhood Risk and Newborn Illness (the BabySeq Project) is a research study exploring the use of genomic sequencing in newborns. The National Institutes of Health is funding this study. The investigators will enroll 240 healthy infants and their parents from the Brigham and Women's Hospital (BWH) Well Newborn Nursery and 240 sick infants and their parents at Boston Children's Hospital (BCH) or the BWH Neonatal Intensive Care Unit (NICU). A small blood sample will be collected from each infant and genome sequencing may be performed. Six weeks later, results are returned and explained. Over 12 months the investigators are studying the experiences of parents and pediatricians of infants who receive sequencing to help understand how best to use genomics in pediatric care.

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

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.

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.