A5102936752- Genetic Neurodegenerative Diseases
- BRCA gene mutations in cancer
- Global Cancer Incidence and Screening
- Neurogenetic and Muscular Disorders Research
- Radiation Therapy and Dosimetry
- Hereditary Neurological Disorders
- Nutrition, Genetics, and Disease
- Retinal Development and Disorders
- Advanced Radiotherapy Techniques
- Radiation Detection and Scintillator Technologies
- Mitochondrial Function and Pathology
- Congenital limb and hand anomalies
- Genetic factors in colorectal cancer
- Homicide, Infanticide, and Child Abuse
- Pectus Deformity Diagnosis and Treatment
- Advanced Breast Cancer Therapies
- Medical Coding and Health Information
- Neurofibromatosis and Schwannoma Cases
- Retinal and Macular Surgery
- Genomics and Rare Diseases
- Neurological diseases and metabolism
- Prenatal Screening and Diagnostics
- Intraocular Surgery and Lenses
- Breast Lesions and Carcinomas
- Telomeres, Telomerase, and Senescence
University of Glasgow
2022
Beatson West of Scotland Cancer Centre
2022
NHS Greater Glasgow and Clyde
2022
University College London
2017-2019
UCL Biomedical Research Centre
2019
University of Cambridge
2017
Western General Hospital
1989-2008
Edinburgh Cancer Research
2008
University of Edinburgh
1986-2007
University of Pennsylvania
1995
Accurate measurements of a specific CAG repeat sequence in the Huntington9s disease (HD) gene 337 HD patients and 229 normal controls from Scottish population showed range 35 to 62 repeats affected subjects eight 33 subjects. A link between early onset symptoms very high number was seen. For with most common allele sizes (39 42 repeats) absolute size poor index for age at symptoms. There variability transmitted both sexes range. We observed significant increase paternal transmission greater...
To assess life expectancy and cardiovascular mortality in carriers of Duchenne Becker muscular dystrophy.Family pedigrees individuals affected with these conditions, held by the four genetics centres Scotland, were examined to identify a cohort definite carriers. Electronic death registration data, General Register Office for used certificates who had died, obtain age at cause death. Survival data obtained general population comparison.397 202 identified from which 94 deaths record linkage...
A prospective study was carried out on 200 consecutive subjects seen for counselling (consultands) serious genetic disorders. Educational and social background of consultands their knowledge understanding particular problem were assessed before counselling, response determined immediately afterwards three months two years later by an independent observer not concerned in the counselling. The husband's educational particularly important influencing a couple's comprehension X-linked recessive...
This study compared the psychological impact of two models breast cancer genetics services in South East Scotland. One hundred and seventy general practices were randomised to refer patients existing standard regional service or novel community-based service. Participants completed postal questionnaires at baseline (n=373), 4 weeks (n=276) 6 months (n=263) assess perceived risk cancer, subjective objective understanding screening issues, distress, worry health behaviours. For participants...
Abstract Objective . We proposed two anatomical models for head and neck patients to predict changes during the course of radiotherapy. Approach Deformable image registration was used build models: (1) average model (AM) simulated systematic progressive across patient cohort; (2) refined individual (RIM) a patient’s CT images acquired treatment update prediction each patient. Planning CTs weekly were from 20 nasopharynx patients. This dataset included 15 training 5 test For patient, spot...
Purpose In pencil beam scanning proton therapy, target coverage is achieved by the laterally in x‐ and y‐directions delivering spots of dose to positions at a given radiological depth (layer). Dose delivered on different layers beams energy until entire volume has been irradiated. The aim this study investigate implementation planning parameters (spot spacing, layer spacing margins) four commercial treatment systems ( TPS s): Eclipse, Pinnacle 3 , RayStation XiO. Materials Methods Using...
We investigated the knowledge of cystic fibrosis and views about neonatal carrier screening in 216 school students aged 14 to 16 years. This work was completed before published identification gene September 1989. Although initial low (only 17% knew that disease affected lungs), there good recall basic information recessive inheritance after a brief lecture. A total 86% considered detection should be offered routinely 88% felt an offer prenatal diagnosis for made if both prospective parents...
One hundred and sixty one patients with motor neurone disease (MND), from the Lothian Region of Scotland, were studied in an attempt to identify factors important aetiology. Onset was between 1961 1981 incidence highest 1968 1975. The probability developing MND greatest ages 65 69, a greater proportion female than males had onset bulbar muscles. Some 5% positive family history MND. There no evidence that infective agents aetiology disease. suggestion patient group contained number electrical...
The CCG rich sequence immediately 3' to the CAG repeat that is expanded in Huntington's disease (HD) has recently been shown be polymorphic with at least 4 alleles differing by multiples of 3 bp being found normal population. We have studied allele distribution 180 HD families resident Scotland and very strong evidence for disequilibrium this For 131 where phase was unambiguously determined, 130 were a 176 cosegregating chromosome. This observation significantly different population 31%...
In treatment planning we depend upon accurate knowledge of geometric and range uncertainties. If the uncertainty model is inaccurate then plan will produce under-dosing target and/or overdosing OAR. We aim to provide a method for which centre site-specific population due inter-fraction motion can be quantified improve in proton planning. Daily volumetric MVCT data from previously treated radiotherapy patients has been used investigate changes water equivalent path-length (WEPL)....
At eight weeks of pregnancy a couple were informed that the prospective father9s mother had died Huntington9s disease (HD). There no living affected members in immediate family to confirm diagnosis. By inspection local genetic register, it was established indeed HD segregating extended family. Genotyping and father, unaffected his maternal grandmother carried out using battery polymorphic DNA markers, including new probe which has very low recombination rate with locus. Analysis from...
Between 1977 and 1985 there was a 65% increase in births to women aged 35 or more England Wales, but only 15% all births. Two factors of roughly equal importance were responsible for this differential increase. Firstly, the proportion older (35-44) among reproductive age (15-44) increased from 28% 31% 1985; and, secondly, same period fertility rate 35-39 18·2 24·1 per 1000 40-44 4·1 4·6 1000. The is not due an extension delay childbearing. This seen married once also those who had remarried....
A postal questionnaire was sent to all 797 general practitioners (GPs) in the Lothians, Borders, and Fife (Scotland), enquiring about attitudes presymptomatic testing for Huntington9s disease. The response rate 74%. Eighty-two percent were favour of principle predictive majority those not prepared refer their patients testing. However, three-quarters GPs unfamiliar with details DNA based linkage analysis. Half respondents felt that disclosure test result subsequent counselling support...
To evaluate current guidelines criteria for inclusion of women in special 'breast cancer family history' surveillance programmes, records were reviewed referred to Scottish breast clinics between January 1994 and December 2003 but discharged as at 'less than 'moderate' familial risk'. The Cancer Registry was then interrogated determine subsequent age-specific incidence this cohort corresponding population figures. Among 2074 women, with an average follow-up 4.0 years, 28 invasive cancers...
In a Scottish family in which Huntington's disease (HD) was segregating, recombination observed between the D4S115/S111 and D4S43/S95 loci, with HD gene associated more proximal locus. Analysis of linkage disequilibrium families showed significant non-random association alleles at D4S95 D4S98 loci. This adds to previous evidence that locus is not sited telomere chromosome 4.
The aim was to assess the relative importance of genetic factors in carcinoma stomach, colon, rectum, prostate, and bladder Scottish males.Cancer cases controls were compared terms coefficient relationship by isonymy (Ri).Surname distributions for cancer derived from Cancer Register years 1959-85. Control all births, marriages deaths Scotland 1976.Analysis carried out on a total 60,933 registrations 101,836 marriages, over 12 local government regions Scotland.Comparisons Ri within between...
Two sibships, each with two affected males but no other family members, are described. All four patients at birth had small eyes white masses visible behind clear lenses. Support for a diagnosis of Norrie's disease lies in the probable mental retardation and sudden death one child families, strong support sensorineural deafness family. A necropsy was performed on dead child. Both showed retinae to be totally non-attached. The optic nerves were thin. If is (highly probable), second supports...