A5011589552- Ethics in Clinical Research
- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Hearing Impairment and Communication
- Cystic Fibrosis Research Advances
- Ethics and Legal Issues in Pediatric Healthcare
- Hearing, Cochlea, Tinnitus, Genetics
- Cancer Genomics and Diagnostics
- Biomedical Ethics and Regulation
- Climate Change Communication and Perception
- Genomic variations and chromosomal abnormalities
- CRISPR and Genetic Engineering
- Genetics and Neurodevelopmental Disorders
- Dental Education, Practice, Research
- Nutrition, Genetics, and Disease
- Race, Genetics, and Society
- Inclusion and Disability in Education and Sport
- Neonatal Respiratory Health Research
- Hearing Loss and Rehabilitation
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Child and Adolescent Health
- Family and Disability Support Research
- Adolescent and Pediatric Healthcare
- Dental Health and Care Utilization
- Social Media in Health Education
Children's Hospital at Westmead
1985-2024
Wellcome Connecting Science
2017-2024
University of Cambridge
2018-2024
Children's Hospital Colorado
2024
University College London
2024
University of Colorado Denver
2024
National University Health System
2024
Raffles Institution
2024
University of Exeter
2023
Sydney Children’s Hospitals Network
2022
Human genome sequencing has transformed our understanding of genomic variation and its relevance to health disease, is now starting enter clinical practice for the diagnosis rare diseases. The question whether how some categories findings should be shared with individual research participants currently a topic international debate, development robust analytical workflows identify communicate clinically relevant variants paramount.
Prelingual non-syndromic (isolated) deafness is the most frequent hereditary sensory defect. In >80% of cases, mode transmission autosomal recessive. To date, 14 loci have been identified for recessive forms (DFNB loci). For two them, DFNB1 and DFNB2, genes responsible characterized; they encode connexin 26 myosin VIIA, respectively. order to evaluate extent which gene ( Cx26 ) contributes prelingual deafness, we searched mutations in this 65 affected Caucasian families originating from...
Genome-wide sequencing in a research setting has the potential to reveal health-related information of personal or clinical utility for study participant. There is increasing pressure return findings participants that may not be related project aims, particularly when these could used prevent disease. Such secondary, unsolicited 'incidental findings' (IFs) discovered unintentionally interpreting sequence data, as result deliberate opportunistic screen. This cross-sectional, web-based survey...
Pediatric disorders include a range of highly penetrant, genetically heterogeneous conditions amenable to genomewide diagnostic approaches. Finding molecular diagnosis is challenging but can have profound lifelong benefits.
This is the second in a series of four papers updating European Cystic Fibrosis Society (ECFS) standards for care people with CF. paper focuses on establishing and maintaining health. The guidance produced using an evidence-based framework wide stakeholder engagement, including from CF community. Authors provided narrative description their topic statements, which were more directive. These statements reviewed by Delphi exercise, achieving good levels agreement group all statements....
The genetic counseling profession is continuing to develop globally, with countries in various stages of development. In some, the has been existence for decades and increasingly recognized as an important provider allied health, while others it just beginning. this article, we describe current global landscape specialty field's professional Using examples United States, Kingdom, Canada, Australia, South Africa, Asia, highlight following: (a) status training programs, (b) availability...
Physiotherapy management is a key element of care for people with cystic fibrosis (CF) throughout the lifespan. Although considerable evidence exists to support physiotherapy CF, there documented variation in practice. The aim this guideline optimize CF Australia and New Zealand. A systematic review literature areas practice was undertaken. Recommendations were formulated based on National Health Medical Research Council (Australia) guidelines considered quality, quantity level evidence;...
<h3>Objective:</h3> To define a distinct <i>SCN1A</i> developmental and epileptic encephalopathy with early onset, profound impairment, movement disorder. <h3>Methods:</h3> A case series of 9 children were identified mutation. <h3>Results:</h3> We 3 to 12 years age; 7 male. Seizure onset was at 6 weeks hemiclonic seizures, bilateral tonic-clonic or spasms. All had impairment nonverbal nonambulatory, required gastrostomy. hyperkinetic disorder occurred in all characterized by dystonia...
Analyzing genomic data across populations is central to understanding the role of genetic factors in health and disease. Successful sharing relies on public support, which requires attention whether people around world are willing donate their that then subsequently shared with others for research. However, studies such perceptions geographically limited do not enable comparison. This paper presents results from a very large survey attitudes toward sharing. Data 36,268 individuals 22...
Abstract Trust may be important in shaping public attitudes to genetics and intentions participate genomics research big data initiatives. As such, we examined trust sharing among the general public. A cross-sectional online survey collected responses from representative publics USA, Canada, UK Australia ( n = 8967). Participants were most likely their medical doctor less other entities named. Company researchers least trusted. Low, Variable High classes defined using latent class analysis....
Global governance can be informed by a deliberative assembly composed of lay citizens
Nurses have a pivotal role in bringing the benefits of genomics and precision medicine to everyday health care, but concerted global effort is needed transform nursing policy practice address widely acknowledged deficits nurses' genomic literacy. The purpose was conduct country organization review engagement with genomics, informing landscape analysis assess readiness for integration into nursing.Global leaders organizations were recruited using purposive sampling strategy complete an online...
Abstract Background Public trust is central to the collection of genomic and health data sustainability research. To merit trust, those involved in collecting sharing need demonstrate they are trustworthy. However, it unclear what measures most likely this. Methods We analyse ‘Your DNA, Your Say’ online survey public perspectives on including responses from 36,268 individuals across 22 low-, middle- high-income countries, gathered 15 languages. examine how participants perceived relative...
With the use of genetic technology, researchers have potential to inform medical diagnoses and treatment in actionable ways. Accurate variant interpretation is a necessary condition for utility technology unfold. This relies on ability access large genomic datasets so that comparisons can be made between variants interest. only successful if DNA data are donated by numbers people 'research', including clinical, non-profit for-profit research initiatives, order accessed scientists clinicians...
The impact of evolving treatment regimens, airway clearance strategies, and antibiotic combinations on the incidence prevalence respiratory infection in cystic fibrosis (CF) children adolescents remains unclear. incidence, prevalence, prescription trends from 2002 to 2019 with 18,339 samples were analysed. Staphylococcus aureus [- 3.86% (95% CI - 5.28-2.43)] showed largest annual decline followed by Haemophilus influenzae 3.46% 4.95-1.96)] Pseudomonas aeruginosa 2.80%95% (- 4.26-1.34)]....
Around the world, genome sequencing is moving from research into clinic, and in UK plans to sequence genomes of 100 000 NHS patients are well underway. A clear policy on how conduct genomic testing therefore both essential urgent, argue <b>Caroline Wright colleagues</b>
Abstract Purpose The changes needed to accelerate integration of genomics across nursing are complex, with significant challenges faced globally. Common themes lend themselves a coordinated and collaborative strategic approach sustained change. We aim synthesize the outputs research program present roadmap for leadership guide practice. Design Mixed methods involving purposive sample global leaders organizations in sustained, highly interactive program. Methods Experts nursing, health care...