A5000357593- Biomedical Ethics and Regulation
- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Health Systems, Economic Evaluations, Quality of Life
- Science, Research, and Medicine
- Biotechnology and Related Fields
- Pharmaceutical Economics and Policy
- Ethics in Clinical Research
- Genetic Associations and Epidemiology
- Nutrition, Genetics, and Disease
- Biomedical and Engineering Education
- CAR-T cell therapy research
- Pharmaceutical studies and practices
- Prenatal Screening and Diagnostics
- Ethics and Legal Issues in Pediatric Healthcare
- Health Literacy and Information Accessibility
- Pluripotent Stem Cells Research
- Biomedical Text Mining and Ontologies
- Intellectual Property and Patents
- Cancer Genomics and Diagnostics
- Economic and Financial Impacts of Cancer
- Machine Learning in Bioinformatics
- Mental Health and Patient Involvement
- Genomic variations and chromosomal abnormalities
- Pharmaceutical industry and healthcare
Cell and Gene Therapy Catapult
2023
Genetic Alliance UK (United Kingdom)
2011-2020
National Hospital for Neurology and Neurosurgery
2017
University College London
2017
The Patients Association
2017
New York University Press
2014
Finnish Institute for Health and Welfare
2014
Cambridge University Press
2014
Rare Disease Therapeutics (United States)
2013
Weatherford College
2010
Abstract The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy partially penetrant inheritance. Loss impairs retrograde intraflagellar transport (IFT) in humans the protist Chlamydomonas , accompanied by destabilization IFT dynein motor. We thus define as an integral...
Recent advances in sequencing technology allow data on the human genome to be generated more quickly and greater detail than ever before. Such includes findings that may of significance health research participant involved. Although studies generally do not feed back information clinically significant (CSFs) participants, this stance is increasingly being questioned. There difficulties risks feeding however, UK10K consortium sought address these by creating a detailed management pathway....
Autosomal dominant polycystic kidney disease (ADPKD) is a chronic, progressive condition characterized by the development and growth of cysts in kidneys other organs additional systemic manifestations. Individuals with ADPKD should have access to lifelong, multidisciplinary, specialist patient-centred care involving: (i) holistic comprehensive assessment manifestations, complications, prognosis impact (in physical, psychological social terms) on patient their family; (ii) treatment relieve...
As the Sustainable Development Goals are adopted by United Nations member states, children with congenital disorders remain left behind in policies, programs, research, and funding. Although this finding was recognized creation endorsement of 63rd World Health Assembly Resolution 2010 calling on states to strengthen prevention improvement care those affected, there has been little no action since then. The call for global health development community focus first foremost most vulnerable...
We need an international infrastructure for the ethical, legal, and social implications of genomic research.
Given the cost constraints of European health-care systems, criteria are needed to decide which genetic services fund from public budgets, if not all can be covered. To ensure that high-priority available equitably within and across countries, a shared set prioritization would desirable. A decision process following accountability for reasonableness framework was undertaken, including multidisciplinary EuroGentest/PPPC-ESHG workshop develop criteria. Resources currently too limited...
Rapid and continuing advances in biomarker testing are not being matched by take-up health systems, this is hampering both patient care innovation. It also risks costing systems the opportunity to make their services more efficient and, over time, economical. This paper sets out potential of testing, unfolding precision range possible diagnosis prediction, many obstacles adoption. offers case studies breast, ovarian, prostate, lung, thyroid colon cancers, derives specific lessons as actual...
<i>Although some work on rare diseases is clearly clinical investigation and research, much activity falls uneasily between the two. Where should we draw line how can ensure research gets appropriate ethical review?</i>
Since developments are global in the healthcare arena, more should be done to align EU and other big markets’ regulatory practices for rare disease patients. Notwithstanding efforts cooperation between US aimed harmonize their strategic plans field of orphan drugs, criteria procedures gain designation, terms classifications still harmonised. Aligning prevalence support medicines various jurisdictions internationally, would facilitate patient recruitment eventually at level, so as data...
Rapid and continuing advances in biomarker testing are not being matched by uptake health systems, this is hampering both patient care innovation. It also risks costing systems the opportunity to make their services more efficient and, over time, economical. The potential that genomics has brought diagnosis, prediction research realised, pre-eminently many cancers, but an ever-wider range of conditions—notably BRCA1/2 ovarian, breast, pancreatic prostate cancers. Nevertheless, implementation...
Patient groups provide valuable support and advocacy for vulnerable people but funding the work can be difficult.<b> Alastair Kent </b>argues that not accepting industry money will unnecessarily limit groups9 effectiveness, <b>Barbara Mintzes</b> believes undermines their independence