View clinical trials related to Genetic Disease.
Filter by:This monocentric retrospective observational study aims to evaluate the efficacy of pre-implantation genetic testing for monogenic diseases (PGT-M). The effectiveness will be assessed in terms of live birth rate (LBR), cumulative live birth rate (CLBR) per couple, and abortion rate (AR). Considering how many cycles the participants have undergone to achieve a viable blastocyst. The secondary objective is to evaluate the incidence of aneuploidy in unaffected embryos, in order to understand the need for pre-implantation genetic testing for aneuploidy (PGT-A)in addition to PGT-M.
It is estimated that 1 in 4 pregnancies end in loss, be these early miscarriages, ectopic pregnancies, or later intrauterine losses for any reason. Genomics is a major part of pregnancy loss, and clinicians want to offer the best and most appropriate test available to women and their families, whilst ensuring that there is equity in the access to this testing, so that no family goes through a loss without the right support and information. Whilst there is limited information to inform professionals as to how to incorporate genomics into bereavement care there is a need to identify current expert consensus as to how this should be performed, in order to make recommendations for best practice.
Patients with neurodevelopmental diseases and their families need to identify the genetic cause of the disease to allow for recognition of the disability, genetic counseling, and possible hope for participation in therapeutic research studies. Access to high-throughput genomic exome or genome analysis allows the identification of a genetic cause for approximately half of the patients. However, families with no result or with a variant of unknown significance after these tests may find themselves in a new diagnostic impasse. The high-throughput sequencing used today generates sequences of the order of 100 base pairs (so-called "short read" sequencing). This allows an analysis of about 90% of the genome. However, many regions are not accessible in regions of interest for the genetic diagnosis of rare diseases. Long fragment sequencing generates sequences that are about 20 times larger and its use has recently made it possible to sequence the human genome almost completely (https://www.science.org/doi/10.1126/science.abj6987). The main contribution lies in the analysis of complex regions of the genome such as segmental duplications or centromeric regions. It is likely that this technology increases the sensitivity of detection of genetic variants in patients with genetic diseases. Its contribution should be studied in patients for whom no genetic cause has been identified by classical techniques. This study aim to investigate the contribution of long fragment genome sequencing.
In most pectus excavatum (PE) patients an underlying genetic defect is not found with molecular analysis, as a direct genetic link with PE has yet to be found and because potential underlying genetic disorders are quite rare. Only one-fifth of all PE cases are identified in the first decade of life and thus of congenital origin making younger PE patients a unique patient group. Therefore, the research question is; is early-onset pectus excavatum (PE) more likely to be part of a genetic defect than PE which became apparent during puberty or adolescence?
Cerebral palsy (CP) is a permanent disorder of movement or posture due to non-progressive impairments of the developing brain. Current estimates indicate that as many as 30% of CP cases may be genetic in nature. In our study, the investigators will re-examine the data of children with CP, who are registered in the Slovenian National Registry of Cerebral Palsy. All children will be invited to the University Children's Hospital, University Medical Centre Ljubljana, where they will be re-examined by a neurologist. Blood for genetic testing will be taken. In the case of confirmed genetic ethiology of CP, the search for specific therapy will be possible.
The overall purpose of this proposed study is to improve management of vaso-occlusive episodes (VOEs) in adult EDs. We aim to implement NHLBI recommendations for VOE treatment by embedding Individualized Pain Plans (IPPs) in the electronic health record (EHR). The EHR-embedded IPP will serve as a record of patients' SCD genotype and will include analgesic medication recommendations developed by the SCD provider. In this project, we will provide access to the IPP for both adult patients with SCD and ED providers. The proposed multisite study will use a pre-post study design, with a core set of mandatory intervention components and strategies for each participating site and optional components and strategies to allow for intervention adaptation to local needs and resources. The EHR-embedded IPP will be available for all adult ED providers to use as their routine practice, and patients will be invited to participate and enroll in the study. We will use a simplified Technology Acceptance Model to explain the use of the IPP and the RE-AIM framework to assess the Reach, Effectiveness, Adoption, Implementation, and Maintenance of the intervention.
We aim to assess the usefulness of systematic reinterpretation of CNV of unknown significance. To investigate this question we will study all CNV of unknown significance detected between 2010 and 2017.
This study aimed to translate the Affordance in the Home Environment for Motor Development -Toddler (AHEMD-T) into Turkish and examine its psychometric properties.
Environment which children live and grown is very important for the all development stages. In Turkey there is no measurement for home environment evaluation so our aim is to investigate the Psychometric Properties of the Turkish version of Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS) in a sample of Turkısh children.
The investigators propose a randomized controlled trial to assess baseline maternal knowledge of and attitudes toward commercial prenatal genetic testing laboratories' genetic privacy practices, and to determine whether a brief educational intervention alters these attitudes.