OrphaNews Europe has several suggestions for those who like to catch up on their rare disease reading during the summer months…
Title: Genetics of Mental Retardation: An Overview Encompassing Learning Disability and Intellectual Disability
Author: Knight, S.J.L –Ed.
Publisher: Karger, 2010
ISBN: 978-3-8055-9280-2
This work focuses on the importance of genetics in intellectual deficit, investigating the extent to which molecular diagnostic capability and the understanding of genetic causes have improved over recent years. In a single volume, a unique combination of key individuals and world-class clinical, diagnostic and research-based experts share specialised, state-of the-art knowledge. The parents’ perspective lies behind chapters dealing with issues such as: classification nomenclature; well-known syndromes; how modern technologies have resulted in newly identified syndromes; how genome architecture can influence disease; guidelines for clinical evaluation; valuable database resources for clinical, diagnostic and research departments; and more.
Title: Noonan Syndrome and Related Disorders - A Matter of Deregulated Ras Signaling
Author: Zenker, M. –Ed.
Publisher: Karger, 2009
ISBN: 978-3-8055-8653-5
In this book, internationally recognised experts review the most important advances regarding the group of human developmental disorders caused by constitutive dysregulation of the Ras-MAPK signalling pathway, including Noonan, cardiofaciocutaneous, LEOPARD and Costello syndromes.
Title: Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics
Author: Kwiatkowski D.J., Holets Whittemore, V., Thiele, E.A. -Eds
Publisher: Wiley-Blackwell, 2010
ISBN: 978-3-527-32201-5
This book provides a comprehensive overview of the molecular basis and clinical features of the genetic disorder tuberous sclerosis. Special focus is placed on novel insights into the signal transduction pathways affected by the disease and genotype phenotype correlations. Existing and potential therapies are also discussed in depth. The editors are leading experts in research and treatment of the disease.
Title: Guide to Paediatric Drug Development and Clinical Research
Authors: Rose, K., van den Anker, J.N. –Eds.
Publisher: Karger, 2010
ISBN: 978-3-8055-9362-5
This book offers an overview of the worldwide activities that increasingly include children in the development of new medicines. Triggered by both a better understanding of how the child’s body develops as well as recent legislation in the USA and in Europe, this comprises dosing, ethics, age-appropriate pharmaceutical forms and clinical trials, amongst other aspects. A wide spectrum of readers can profit from this book, including paediatricians, pharmacists, general practitioners and health care professionals involved in child care and paediatric research, clinical trial personnel, patient advocacy groups, ethics committees, politicians, parents and interested lay persons.
For those readers interested in brushing up their French skills while staying current on rare disease issues, the Presse Médicale has produced a supplementary issue entirely devoted to the contributions of specialists participating in the rare disease colloquium held in Montpelier, France last October. An array of leaders weigh in on the topics of R&D, public-private collaborations, regulatory assessment, the French rare disease plan, the role of the patient organisation, registries, diagnostics, centres of reference, emerging technologies, medical devices for rare diseases, biobanks, and the ever-thorny issue of financing. With the exchanges between participants faithfully recorded, this special issue provides some très intéressant reading.
Finally, a new journal is offering free access to articles from its debut issue. Molecular Syndromology features “research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings”.
Happy reading from the staff of OrphaNews Europe!