Name: Genetic Testing for Rare Diseases
Price: 885.37 ZAR
Availability: InStock
Author: José Millán
ISBN: 9783036537283

portada Genetic Testing for Rare Diseases

Type

Physical Book

Illustrated by

José Millán

Publisher

Mdpi AG

Author

José Millán

Language

English

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 "

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.

José Millán

(Illustrated by)

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(Vizcaya, Spain, 1958) Humanistic Astrologer. In 1980, he graduated in Physics from the University of Bilbao and, years later, in Telematics and Organization from the Free University of Brussels. He was a systems analyst at a financial entity in the Basque Country from 1982 to 1986, the year he joined the European Commission in Brussels, where he held various positions until 2014. His more than twenty-seven years of community experience brought him into contact with various sectors of European political activity, from telecommunications to the environment, industry, and technology.

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