Clinical and Translational Perspectives on WILSON DISEASE brings together the genetics, cell and structural biology of Wilson Disease into one contemporary, easy to navigate handbook. Created to meet the diverse needs of the clinical and research communities surrounding Wilson Disease, this reference provides a worldwide approach that is concise and translational. Specifically, it provides a basis for clinicians to appreciate 'basic science' aspects of Wilson disease, presenting a guide for researchers to understand the clinical disorder on which their research is focused and fostering constructive dialogue and progress for this puzzling disorder.
- Delivers numerous, succinct, expert chapters with summaries designed for quick reference
- Includes a 'How-to appendix' for diagnosis and management tips
- Contains access to a companion website with a self-help teaching module, links to key resources, and an extended reference list
1. Introduction 2. History
Cellular physiology 3. Biological aspects of copper 4. Cu uptake (CTR1 etc) 5. Wilson ATPase structure 6. Wilson ATPase function 7. COMMD1 8. Cu in mitochondria 9. Ceruloplasmin 10. Metalloproteomics 11. Cu disposition in bacteria 12. Cu disposition in yeast 13. Animal models-KO mouse
ATP7B gene 14. Characteristics of gene; genetic diagnosis 15. Epigenetics
Clinical aspects 16. WD in adults 17. WD in children 18. Neuro-WD 19. Psychiatric-WD 20. Ophthalmological-WD 21. Biochemical diagnosis 22. Direct determination of NCB-Cu 23. Histopathology 24. Imaging--CNS 25. Role of scoring systems 26. Screening (population; kindreds) 27. Genetic counselling
WD around the world 28. Regional WD: northern Europe 29. Regional WD: Sardinia/ Mediterranean Europe 30. Regional WD: Israel 31. Regional WD: Brazil 32. Regional WD: India 33. Regional WD: China
Treatment 34. Treatment: D-penicillamine 35. Treatment: trientine 36. Treatment: zinc 37. Adherence to medications 38. Liver transplantation 39. New treatment modalities
Special issues related to Wilson disease 40. Wilsonian fulminant hepatic failure 41. Pregnancy 42. WD-mimics 43. ATP7B and Alzheimer disease
Related issues of copper disposition and disease 44. ATP7A disorders 45. Other disorders of copper-handling
Dr. Kerkar trained at King's College Hospital, London, United Kingdom as a pediatric gastroenterologist/transplant physician and has been practicing in the United States since 2002. She is a senior academic physician, and is currently Professor of Pediatrics at Keck School of Medicine, USC and Medical Director of the Liver/Small Bowel Transplant Program at Children's Hospital of Los Angeles. She is actively engaged in highly-productive clinical research relating to children's liver diseases; she is a member of several research consortia in the United States, including the NIDDK-funded ChiLDReN consortium.
Roberts, Eve A
Dr. Roberts was trained as an internist/hepatologist but spent her academic medical career as a pediatric hepatologist and researcher at the Hospital for Sick Children in Toronto; she was the clinician on the team which identified the gene abnormal in Wilson disease and she collaborated to develop metalloproteomics as a research strategy for Wilson disease; she has written extensively about Wilson disease. Previously a full professor and senior scientist, she is currently an adjunct professor of Paediatrics, Medicine and Pharmacology & Toxicology at the University of Toronto, and adjunct scientist in the Genetics and Genomic Medicine program of the Hospital for Sick Children Research Institute. Having recently completed a PhD in Philosophy (Philosophy of Science/Scientific Epistemology) at Dalhousie University, she is currently a Research Associate at the University of King's college in Halifax, NS