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Coordination between the eyes is vital for children's visual and motor development, yet it often fails to develop properly. Horwood and Riddell's research has had important implications for the clinical management of binocular coordination, particularly for infant squint and childhood long-sightedness. They have demonstrated that most newborn infants (approximately 75%) have intermittent misalignment (i.e. sometimes point their eyes in different directions), but after 4 months of age only 3.25% continue to squint and it is only these children that require intervention. As a result, concerned parents have been advised appropriately and unnecessary appointments with GPs and specialists have been reduced. Horwood and Riddell's findings have also led to a substantial change in the management of long-sightedness, from which about 5% of children in the UK suffer (i.e. approximately 300,000 children between 5 and 14 years of age). Traditionally, children with long-sightedness have been provided with glasses that under-correct their vision. Our findings, however, have (i) demonstrated that some long-sighted children choose not to focus on near objects, and (ii) informed clinicians that full correction of focussing is often required to ensure clear vision, for instance, when reading. In both areas, Horwood and Riddell's research has led to changes in clinical guidelines, training, and practice and the advice given to concerned parents.
The Leicester Cilia Group (LCG) established methods to study ciliary damage and dysfunction, transforming the diagnosis and management of Primary Ciliary Dyskinesia (PCD), a genetic disorder that causes severe permanent lung damage in children. The group developed diagnostic methods, adopted in the UK and internationally, that increased the accuracy and speed of diagnosis, uncovering a number of previously unrecognised phenotypes. The group was instrumental in the establishment of the first nationally funded diagnostic service (three centres, including Leicester) in the world. This has resulted in the group jointly leading a successful bid (2012) to set up the first nationally funded management service for children with PCD.
Research at the UCL Institute of Ophthalmology over the last 20 years has resulted in the identification of a large number of novel genes that cause inherited retinal disease. These genes have been incorporated into diagnostic tests, which have allowed molecular diagnosis, improved genetic counselling including pre-natal/pre-implantation diagnosis, better information about prognosis and have informed decisions about which diseases should be prioritised for clinical trials of novel treatments. The identification of these genes has greatly improved understanding of disease mechanisms, an essential prerequisite for developing new treatment approaches such as gene therapy.
Research at UCL into the genetics of neuronal ceroid lipofuscinoses (NCL) — also known as Batten Disease - has had a global impact on the diagnosis and understanding of this group of diseases. The identification of genes and mutations has led to new diagnostic tests, which inform clinical management in terms of expected disease course and choice of the most effective drugs; prenatal and pre-implantation diagnoses for prevention are also possible. The group has established a new classification of diseases according to gene-based nomenclature. Information about all genes that underlie NCL has been collated in the NCL Mutation Database, which is freely available on the NCL Resource website. The group has also engaged closely with professionals and affected families to maximise the reach and understanding of research.
Our research has had impact on the activities of practitioners and their services, health and welfare of patients, on society and on public policy. New diagnostic tests for genetic deafness have been introduced, and healthcare guidelines and professional standards adopted through our investigation of the aetiology of childhood-onset hearing loss. Disease prevention has been achieved by our research on antibiotic-associated deafness, public awareness of risk to health and hearing has been raised, and we have increased public engagement through debate on scientific and social issues. We have also influenced public policy on ethics of genetic testing for deafness with our research resulting in improved quality, accessibility and acceptability of genetic services among many hard-to-reach groups (deafblind, culturally Deaf, and the Bangladeshi population of East London).
Neonatal extracorporeal membrane oxygenation (ECMO) is a complex procedure of life support used in severe but potentially reversible respiratory failure in newborn infants. In 1993 researchers in Leicester carried out the first and, to date, only large-scale randomised trial comparing the value of ECMO with other means of life support. The trial, with follow-up research at 4 and 7-year intervals, has shown ECMO to be a life-saving and cost-effective treatment, and has led to the establishment of a centrally funded neonatal programme that is estimated to have saved around 340 lives in the UK alone. In 2013 the University remains internationally renowned in the field of ECMO research, and since 2009 Glenfield Hospital has been home to the world's largest ECMO centre for the treatment of newborns, older babies and adults. The trial is still held up by advocates of fair clinical trials as an example of how evidence should translate into practice and policy.
Diagnostic tests have been successfully developed for identification of the cause of erythrocytosis, particularly in patients with unexplained forms of this rare disease. A diagnostic service with worldwide reach was developed for the genetic characterisation of patients that carry mutations identified by the Queens's group. It deals with approximately 100 samples per year referred for investigation for this rare disease from the UK, Europe and further afield. Proper diagnosis helps in management of patients with erythrocytosis where the problem is not mutation in one of the familiar causative genes. A pan-European web-based database has been established to collect information on long-term outcomes to inform patient management.
Although individually infrequent, rare diseases collectively are a major health burden, particularly for individuals who suffer with conditions that are not routinely diagnosed or have no effective care pathways. Through the work of Professor Tim Barrett, the University of Birmingham is internationally recognised for translational research in rare inherited diabetes and obesity syndromes. This has had major impacts on patient care through gene identification for devastating multi-system syndromes; development of a unique international diagnostic testing service combining molecular testing with international clinical expertise; European reference centre status for three NHS highly specialised multidisciplinary services; and leadership of the European Registry for rare diabetes syndromes. Our national and international leadership for these previously poorly-served conditions has enabled sharing of best clinical practice, including development of clinics for Wolfram syndrome across the world.
Research at the UCL Institute of Child Health (ICH) has led to the successful treatment of children with primary immunodeficiency diseases for whom there was little chance of "cure" by the only other possible means: haematopoietic stem cell transplantation (HSCT). Beginning in 2002, we have treated 32 patients with four different primary immunodeficiency disorders. In total we have treated 12 patients with severe combined immunodeficiency (SCID-X1), 13 patients with adenosine deaminase deficient severe combined immunodeficiency (ADA-SCID), 5 patients with chronic granulomatous disease (CGD) and 2 patients with Wiskott-Aldrich syndrome (WAS). Most of the patients have been successfully treated and are at home, off all therapy. We are now starting to develop this technology to treat a wider range of related disorders.
As a result of research from Oxford's Professor Andrew Wilkie, accurate genetic diagnostic tests are now available for over 23% of all craniosynostosis cases nationally and internationally, leading to improved family planning and clinical management of this common condition worldwide. The premature fusion of cranial sutures, known as craniosynostosis, is a common developmental abnormality that occurs in 1 in 2,500 births. Over the past 20 years, the University of Oxford's Clinical Genetics Lab, led by Professor Wilkie in collaboration with the Oxford Craniofacial Unit, has identified more than half of the known genetic mutations that cause craniosynostosis and other malformations of the skull.