Research of Rare and Orphan Diseases

RE(ACT), International Congress on Research of Rare and Orphan Diseases, Basel, February/March 2012. Special Topic Issue: Molecular Syndromology 2012, Vol. 3, No. 5

Menzel (Herausgeber)

Buch | Softcover

54 Seiten

2012
Karger, S (Verlag)
978-3-318-02314-5 (ISBN)

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The medical community does not see rare diseases as a field of priority. In fact, poor characterization of the natural causes, pathologies and low numbers of cases make diagnosis difficult, often resulting in a real ordeal for patients and their families. This special issue of Molecular Syndromology presents six selected contributions of the First International Congress on Research of Rare and Orphan Diseases which brought together courageous researchers working on rare and orphan diseases. It shows the growing research interest in rare and orphan diseases, the new experimental approaches, such as next generation sequencing and therapeutic possibilities. Topics outlined in this issue are: Current debates on the emerging technical, medical and ethical issues Potential optimum use of the available technology Molecular genetics of Charcot-Marie-Tooth diseases Amelogenesis imperfecta - a clinically and genetically heterogeneous group of inherited defects of enamel formation Smith-Lemli-Opitz syndrome - an autosomal recessive disorder characterized by multiple congenital abnormalities and mental retardation Strategies for therapeutic suppression of nonsense mutations in inherited metabolic diseases Furthermore, the involvement of patient organizations in the development of orphan drugs for rare diseases is emphasized. This volume is essential reading for all researchers in the fields of human genetics and syndromology and everyone interested in the study of rare diseases.

Erscheint lt. Verlag	3.1.2013
Reihe/Serie	Molecular Syndromology
Zusatzinfo	11 fig., 6 in color, 10 tab.
Verlagsort	Basel
Sprache	englisch
Gewicht	224 g
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete ► Laboratoriumsmedizin
	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
	Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie
Schlagworte	General Medicine • Genetics • Medical Engineering • Molecular Biology • Zeitschrift/Magazin
ISBN-10	3-318-02314-0 / 3318023140
ISBN-13	978-3-318-02314-5 / 9783318023145
Zustand	Neuware