Name: Genetic Testing for Rare Diseases (in English)
Price: 44.32 USD
Availability: InStock
Author: Jose Millan
ISBN: 9783036537283

portada Genetic Testing for Rare Diseases (in English)

Type

Physical Book

Illustrated by

Jose Millan

Publisher

Mdpi AG

Author

Jose Millan

Language

Inglés

Pages

146

Format

Hardcover

Dimensions

24.4 x 17.0 x 1.4 cm

Weight

0.52 kg.

ISBN13

9783036537283

Synopsis "Genetic Testing for Rare Diseases (in English)"

Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disability that entail and hinder the development of a normal vital subject, not only in those who suffer from them, but also their families; therefore, a comprehensive social health approach is necessary to address this problem.About 80% of rare diseases have a genetic origin, mainly monogenic; thus, genetic testing is mandatory for the confirmation of clinical diagnostics and to ensure correct genetic counseling. Next-generation sequencing (NGS) has enabled a revolution in genetic diseases, specially in rare diseases. However, their complexity makes diagnoses difficult even with the advent of NGS.In this Special Issue, we present several examples of the complexity of genetic diagnosis for most of these diseases and the consequences that genetic testing implies for genetic counseling. There are examples of the genetic heterogeneity of hearing loss, some metabolic and lisosomal disorders, ataxia, Prader-Willi syndrome, and three comprehensive reviews on syndromic retinal dystrophies, the complexity of the molecular diagnosis of neuromuscular disorders, and the value of genetic counseling before and after a genetic test.

Jose Millan

(Illustrated by)

View Author's Page

(Vizcaya, España, 1958) Astrólogo Humanística. En 1980 se licenció en Física por la Universidad de Bilbao y, años más tarde, en Telemática y Organización por la Universidad Libre de Bruselas. Fue analista de sistemas en una entidad financiera del País Vasco de 1982 a 1986, año en el que se incorporó a la Comisión Europea en Bruselas, donde desempeñó diversas funciones hasta 2014. Sus más de veintisiete años de experiencia comunitaria le pusieron en contacto con diversos sectores del quehacer político europeo, desde el campo de las telecomunicaciones al medio ambiente, la industria y la tecnología.

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