A5028622431- Hemoglobinopathies and Related Disorders
- Prenatal Screening and Diagnostics
- Global Maternal and Child Health
- Child Nutrition and Water Access
- Iron Metabolism and Disorders
- Genomics and Rare Diseases
- Birth, Development, and Health
- Biomedical Text Mining and Ontologies
- Folate and B Vitamins Research
- Congenital Anomalies and Fetal Surgery
- Global Public Health Policies and Epidemiology
- Food Security and Health in Diverse Populations
- Global Health and Surgery
- Gene expression and cancer classification
- Disability Rights and Representation
- Chronic Disease Management Strategies
- BRCA gene mutations in cancer
- Facial Rejuvenation and Surgery Techniques
- Dermatologic Treatments and Research
- Academic Publishing and Open Access
- Electronic Health Records Systems
- Research Data Management Practices
- Scientific Computing and Data Management
- Pregnancy and preeclampsia studies
- Blood groups and transfusion
University College London
1995-2021
Health Education England
2008-2013
The Royal Free Hospital
2000
University College Hospital
2000
The UK Thalassaemia Register records births, deaths and selected clinical data of patients with thalassaemia who are resident in the UK. A study survival causes death was undertaken which aimed to include possible impact T2* cardiovascular magnetic resonance (CMR). updated end 2003, copies certificates were obtained, beta major extracted. In addition, had CMR assessment cardiac iron load and/or received oral chelator deferiprone identified from records. main anaemia (before 1980),...
Congenital anomaly registries have two main surveillance aims: firstly to define baseline epidemiology of important congenital anomalies facilitate programme, policy and resource planning, secondly identify clusters cases any other epidemiological changes that could give early warning environmental or infectious hazards. However, setting up a sustainable registry system is resource-intensive requiring national infrastructure for recording all diagnostic facilities those malformations are not...
As child mortality rates overall are decreasing, non-communicable conditions, such as genetic disorders, constitute an increasing proportion of mortality, morbidity and disability. To date, policy public health programmes have focused on common disorders. Rare single gene disorders important source premature for affected families. When considered collectively, they account burden, which is frequently under-recognised. document the collective frequency burden rare it necessary to aggregate...
Chromosomal disorders, of which Down syndrome is the most common, can cause multi-domain disability. In addition, compared to general population, there a higher frequency death before age five. many settings, large gaps in data availability have hampered policy-making, programme priorities and resource allocation for these important conditions. We developed methods, overcome this lack allow estimation burden affected pregnancies their outcomes different settings worldwide. For example,...
Congenital disorders are an important cause of pregnancy loss, premature death and life-long disability. A range interventions can greatly reduce their burden, but the absence local epidemiological data on prevalence impact impede policy service development in many countries. In attempt to overcome these deficiencies, we have developed a tool-The Modell Global Database Disorders (MGDb) that combines general biological principles available observational with demographic data, generate...
Torrents of genotype–phenotype data are being generated, all which must be captured, processed, integrated, and exploited. To do this optimally requires the use standard interoperable “object models,” providing a description how to partition total spectrum information dealt with into elemental “objects” (such as “alleles,” “genotypes,” “phenotype values,” “methods”) precisely stated logical interrelationships “A objects made up from one or more B objects”). We herein propose Phenotype...
BackgroundIn 2010 the World Health Assembly called for action to improve care and prevention of congenital disorders, noting that technical guidance would be required this task, especially in low- middle-income countries. Responding call, we have developed a freely available web-accessible Toolkit assessing health needs disorders.
In the absence of intervention, early-onset congenital disorders lead to pregnancy loss, early death, or disability. Currently, lack epidemiological data from many settings limits understanding burden these conditions, thus impeding health planning, policy-making, and commensurate resource allocation. The Modell Global Database Congenital Disorders (MGDb) seeks meet this need by combining general biological principles with observational demographic data, generate estimates disorders. A range...
Congenital disorders (often also called birth defects) are an important cause of mortality and disability. They encompass a wide range with differing severity that can affect any aspect structure or function. Understanding their epidemiology is in developing appropriate services both for prevention treatment. The need epidemiological data on congenital has been recognised many decades. Here, we provide historical overview work led to the development Modell Global Database Disorders (MGDb)—a...
The role of the haemoglobinopathy nurse counsellor: an exploratory study haemoglobin disorders are among most common genetically inherited conditions within United Kingdom. Individuals who fully affected have severely impaired health while carriers may be faced with difficult reproductive decisions although generally they well. Policy makers agree that counselling for families at risk should undertaken in primary care settings and since early 1980s this service has been mainly by specialist...
In the near future, professionals at all levels of health services, including primary care, will need to be able inform patients clearly and correctly about implications many different DNA variants. This growing presents a major information challenge for systems. We propose that can met by bringing together bioinformatics (supporting genetics) informatics clinical services public health), into new area applied supporting community genetics. are currently investigating approach using model...
The objective of genetic screening is informed choice. UK Confidential Enquiry into Genetic Counselling by Non-Geneticists (CEGEN) aims to assess the attainment this at community level. Antenatal for thalassaemias and sickle cell disorders has long been standard practice in UK. National registers patients prenatal diagnoses identify all known conceptions with a fetus thalassaemia major, their outcomes. CEGEN viewed obstetric records women an affected pregnancy 1990–1994: risk had detected...