Clinical Ophthalmic Genetics and Genomics
Academic Press Inc (Verlag)
978-0-12-813944-8 (ISBN)
Dr. Graeme Black, an internationally recognised authority on Genetic Ophthalmology, is Professor and Honorary Consultant of Genetics and Ophthalmology at the University of Manchester, England. Graeme’s major research focus is the molecular and phenotypic characterisation of inherited developmental disorders, aiming to improve diagnosis, management and treatment. He has >250 peer-reviewed publications. Graeme runs a busy supraregional clinical service and oversees the scientific team that provides accredited genomic testing for patients with ophthalmic disorders (2004-date). Concurrently, Graeme has held a number of key strategic clinical academic leadership positions (e.g Director, NIHR Manchester Biomedical Research Centre (2009-12), Manchester Institute of Human Development (2012-15), Manchester Centre for Genomic Medicine and North West England Genomic Laboratory Hub (2015-2021). Dr. Jane Ashworth is a Consultant Pediatric Ophthalmologist at Manchester Royal Eye Hospital and Honorary Professor at the University of Manchester. She has a busy clinical and surgical paediatric ophthalmology practice, with regular multidisciplinary subspecialty clinics in pediatric cataract, ophthalmic genetics, pediatric uveitis and metabolic disease. Jane has a major role in teaching and training as Head of School of Ophthalmology in Health Education England North West. Dr. Panagiotis (Panos) Sergouniotis is a Senior Lecturer and Consultant in Genetic Ophthalmology at the University of Manchester. His research involves working at the intersection of genomics, bioinformatics and clinical ophthalmology and his contributions span the translational spectrum from basic biology to implementation science. Panos runs the supraregional pediatric ophthalmic genetic clinic specialising in genetic disorders of the retina.
Section I. Genomics and the eye
1. Genetic disorders and genetic variants
2. Genetic testing techniques
3. Genetic variant interpretation
4. Genetic counselling and family support
5. Syndromic conditions and the eye
6. Ophthalmic phenotyping. Electrophysiology
7. Ophthalmic phenotyping. Imaging
8. Gene therapy and treatment trials
Section II. Genetic disorders affecting the anterior segment
9. Genetic disorders affecting the cornea
10. Anterior segment developmental disorders
11. Cataract
12. Ectopia lentis
Section III. Genetic disorders affecting the posterior segment
13. Genetic disorders affecting the retina, choroid and RPE
14. Familial vitreoretinopathies
15. Genetic disorders affecting the optic nerve
Section IV. Genetic disorders affecting both the anterior and posterior segment
16. Developmental eye disorders
17. Aniridia
18. Albinism
Section V. Genetic disorders affecting ocular motility
19. Infantile nystagmus
20. Congenital cranial dysinnervation disorders
21. Progressive external ophthalmoplegia
Section VI. Tumour predisposition syndromes
22. Phakomatoses
23. Naevoid basal cell carcinoma syndrome
24. Congenital hypertrophy of retinal pigment epithelium (CHRPE)
25. Retinoblastoma
| Erscheinungsdatum | 18.01.2022 |
|---|---|
| Verlagsort | San Diego |
| Sprache | englisch |
| Maße | 216 x 276 mm |
| Gewicht | 1540 g |
| Themenwelt | Informatik ► Weitere Themen ► Bioinformatik |
| Medizin / Pharmazie ► Medizinische Fachgebiete ► Augenheilkunde | |
| Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik | |
| Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie | |
| ISBN-10 | 0-12-813944-7 / 0128139447 |
| ISBN-13 | 978-0-12-813944-8 / 9780128139448 |
| Zustand | Neuware |
| Informationen gemäß Produktsicherheitsverordnung (GPSR) | |
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