{"product_id":"genetic-testing-for-rare-diseases-hardcover","title":"Genetic Testing for Rare Diseases - Hardcover","description":"\u003cp\u003eby \u003cb\u003eJose Millan\u003c\/b\u003e (Editor)\u003c\/p\u003e\u003cp\u003e\u003c\/p\u003e\u003cp\u003eRare 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.\u003c\/p\u003e\u003cp\u003eAbout 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. \u003c\/p\u003e\u003cp\u003eNext-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.\u003c\/p\u003e\u003cp\u003eIn 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.\u003c\/p\u003e\u003cdiv\u003e\n\u003cstrong\u003eNumber of Pages:\u003c\/strong\u003e 146\u003c\/div\u003e\u003cdiv\u003e\n\u003cstrong\u003eDimensions:\u003c\/strong\u003e 0.56 x 9.61 x 6.69 IN\u003c\/div\u003e\u003cdiv\u003e\n\u003cstrong\u003ePublication Date:\u003c\/strong\u003e March 31, 2022\u003c\/div\u003e","brand":"Books by splitShops","offers":[{"title":"Default Title","offer_id":47408966009010,"sku":"9783036537283","price":63.83,"currency_code":"USD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0770\/3891\/1666\/files\/55848889068c06cc06dbbdc824f6d253.webp?v=1778255492","url":"https:\/\/box.dadyminds.org\/products\/genetic-testing-for-rare-diseases-hardcover","provider":"DADYMINDS BOX","version":"1.0","type":"link"}