Names, CVs (as available), locations and contact details of Investigators are available to Subscribers.
To subscribe, please contact Emma Taylor at emma@specialistinfo.com or 01423 727 724 for details on subscription costs. |
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| Phrase | Consultant | Town | Special Interests |
| cardiovascular manifestations of rare genetic and metabolic disease | *Consultant(s)* | *Towns* | Inherited cardiovascular diseases, cardiomyopathies, inherited arrhythmia, cardiovascular manifestations of rare genetic and metabolic disease, sudden cardiac death |
| familial risk and genetic breast cancer | *Consultant(s)* | *Towns* | Surgical oncology, breast cancer and breast diseases, intraoperative radiotherapy, tobacco eradication, screening for breast cancer, TARGIT intraoperative radiotherapy, familial risk and genetic breast cancer, HRT - hormone replacement therapy, lumpectomy surgery, mastectomy, sentinal node biopsy and axillary clearance, neoadjuvant chemotherapy |
| genetic causes of kidney disease | *Consultant(s)* | *Towns* | Paediatric nephrology, polycystic kidney disease, genetic causes of kidney disease, obstructive uropathy, hypertension, nephrotic syndrome, rare disease lead |
| genetic conditions in which the corticospinal tract motor neuron axons degenerate | *Consultant(s)* | *Towns* | Hereditary spastic paraplegias, genetic conditions in which the corticospinal tract motor neuron axons degenerate, hereditary ataxias, hereditary motor and sensory neuropathies |
| Genetic dermatology | *Consultant(s)* | *Towns* | Genetic dermatology, paediatric dermatology, atopic disorders, assessment of pigmented skin lesions |
| genetic disorders of the thyroid axis | *Consultant(s)* | *Towns* | Thyroid disease, Addison's disease, genetic disorders of the thyroid axis |
| genetic endocrinology | *Consultant(s)* | *Towns* | Vitamin D, genetic endocrinology, renal disease in diabetes, inherited diabetes, metabolic disorders, Von Hippel-Lindau disease, pituitary and adrenal diseases |
| genetic eye disease | *Consultant(s)* | *Towns* | Paediatric ophthalmology, genetic eye disease |
| genetic eye disease | *Consultant(s)* | *Towns* | Medical retina, cataracts, diabetic and vascular retinal eye disease, genetic eye disease |
| genetic eye disease | *Consultant(s)* | *Towns* | Paediatric ophthalmology, strabismus, paediatric cataract, genetic eye disease, diagnosis and management of infantile and childhood cataract, inherited eye disorders |
| genetic eye disease | *Consultant(s)* | *Towns* | Medical retina, diabetic retinopathy, age-related macular disease, genetic eye disease, retinal vein occlusions |
| genetic eye disorders | *Consultant(s)* | *Towns* | Brown-Vilaetto-Van Laere syndrome, central nervous system hypo/dysmyelinating disorders, neurodevelopmental disorders, clinical dysmorphology, neurofibromatosis 1, genetic eye disorders |
| genetic eye problems | *Consultant(s)* | *Towns* | Prenatal diagnosis, genetic eye problems, cancer genetics |
| genetic heart disease | *Consultant(s)* | *Towns* | Interventional cardiology, congenital heart disease, cardiac pacing, valvuloplasty, genetic heart disease, maternal heart disease |
| genetic hyperlipidaemia | *Consultant(s)* | *Towns* | Lipidology, genetic hyperlipidaemia, high cholesterol, risk factors for heart disease and stroke, nutrition and obesity |
| genetic metabolic and rare liver disease | *Consultant(s)* | *Towns* | Hepatology, genetic metabolic and rare liver disease, viral hepatitis, therapeutic endoscopy, IBD - inflammatory bowel disease, colonoscopy, autoimmune liver disease, general internal medicine |
| genetic muscle disease | *Consultant(s)* | *Towns* | Neuromuscular disorders, genetic muscle disease, myasthenia gravis |
| genetic neurological disorders | *Consultant(s)* | *Towns* | Movement disorders including Parkinson's disease, ataxia, genetic neurological disorders, headache |
| genetic oncology | *Consultant(s)* | *Towns* | Gynaecological oncology, genetic oncology, genito-urinary medicine, women's health, minimal access surgery |
| genetic oncology | *Consultant(s)* | *Towns* | Medical oncology, cancer genetics, genetic oncology, pharmacogenomics, breast cancer, ovarian cancer |
| genetic renal disease | *Consultant(s)* | *Towns* | Peritoneal dialysis, genetic renal disease, polycystic kidney disease |
| genetic retinal diseases | *Consultant(s)* | *Towns* | Medical retina, AMD - age-related macular degeneration, diabetic retinopathy, uveitis, genetic retinal diseases, cataract surgery |
| genetic skin disease | *Consultant(s)* | *Towns* | Epidermolysis bullosa, genetic skin disease, paediatric dermatology |
| genetic syndromes | *Consultant(s)* | *Towns* | Clinical genetics, paediatric genetics, dysmorphology, genetic syndromes, congenital malformations, cardiac genetics |
| genetic tumour syndromes | *Consultant(s)* | *Towns* | Gastrointestinal pathology, colorectal cancer, gynaecological pathology, genetic tumour syndromes |
| hearing disorders in cleft palate and other craniofacial syndromes/genetic hearing loss | *Consultant(s)* | *Towns* | Auditory neuropathy spectrum disorder - ANSD, auditory processing disorder - APD, ototoxicity, hearing disorders in cleft palate and other craniofacial syndromes/genetic hearing loss, vestibular disorders - acute vertigo, chronic persistent dizziness,benign paroxysmal positional vertigo - BPPV, paediatric vestibular disorders, newborn hearing screening, aetiology of hearing loss in children and adults, assessment of children with developmental delay and complex needs, dizziness and balance disorders in children, multisensory disequilibrium |
| hereditary genetic testing | *Consultant(s)* | *Towns* | Fetal medicine, ultrasound, reproductive medicine, assisted conception, feto-maternal medicine, recurrent miscarriage, early pregnancy unit, hereditary genetic testing, hereditary cancer testing, cancer screening |
| preimplantation genetic diagnosis | *Consultant(s)* | *Towns* | Prenatal genetics, preimplantation genetic diagnosis, disorders of sexual dysgenesis |
| preimplantation genetic diagnosis | *Consultant(s)* | *Towns* | Infertility, preimplantation genetic diagnosis, reproductive medicine and surgery, IVF, fertility preservation |
| Preimplantation genetic diagnosis | *Consultant(s)* | *Towns* | Infertility, IVF, Preimplantation genetic diagnosis |
| prenatal diagnosis and preimplantation genetic testing | *Consultant(s)* | *Towns* | ELSI - Ethical, Legal and Social Implications, skeletal dysplasias, prenatal diagnosis and preimplantation genetic testing |
| research interests in the epidemiology and genetic epidemiology of rheumatic disease | *Consultant(s)* | *Towns* | Clinical interest in general rheumatology, management of inflammatory joint disease and osteoarthritis, research interests in the epidemiology and genetic epidemiology of rheumatic disease, interest in measuring outcomes of chronic disease and orthopaedic interventions, and in understanding risk factors determining outcome |
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