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Rare genetic disorders = advancements in diagnosis and treatment /

Record Type:	Electronic resources : Monograph/item
Title/Author:	Rare genetic disorders/ edited by Muhammad Umair, Misbahuddin Rafeeq, Qamre Alam.
Reminder of title:	advancements in diagnosis and treatment /
other author:	Umair, Muhammad.
Published:	Singapore :Springer Nature Singapore : : 2024.,
Description:	xiii, 275 p. :ill., digital ;24 cm.
[NT 15003449]:	Chapter 1. Introduction to rare genetic disorders -- Chapter 2. Techniques for genetic disorders -- Chapter 3. Prenatal screening and counseling for rare genetic disorders -- Chapter 4. Disease models for Rare Genetic Disorders -- Chapter 5. Research and clinical approaches to undiagnosed rare genetic disorders -- Chapter 6. Drug discovery and development for Rare Genetic Disorders -- Chapter 7. Rare Genetic Disorders: Unraveling the Pathophysiology, Gene Mutations and Therapeutic Advances in Fabry Disease and Marfan Syndrome -- Chapter 8. Current insights into the potential of gene therapy to treat rare mitochondrial diseases -- Chapter 9. Challenges and future opportunities in Rare Genetic Disorders.
Contained By:	Springer Nature eBook
Subject:	Genetic disorders. -
Online resource:	https://doi.org/10.1007/978-981-99-9323-9
ISBN:	9789819993239

Rare genetic disorders = advancements in diagnosis and treatment /
Rare genetic disordersadvancements in diagnosis and treatment /[electronic resource] :edited by Muhammad Umair, Misbahuddin Rafeeq, Qamre Alam. - Singapore :Springer Nature Singapore :2024. - xiii, 275 p. :ill., digital ;24 cm.

Chapter 1. Introduction to rare genetic disorders -- Chapter 2. Techniques for genetic disorders -- Chapter 3. Prenatal screening and counseling for rare genetic disorders -- Chapter 4. Disease models for Rare Genetic Disorders -- Chapter 5. Research and clinical approaches to undiagnosed rare genetic disorders -- Chapter 6. Drug discovery and development for Rare Genetic Disorders -- Chapter 7. Rare Genetic Disorders: Unraveling the Pathophysiology, Gene Mutations and Therapeutic Advances in Fabry Disease and Marfan Syndrome -- Chapter 8. Current insights into the potential of gene therapy to treat rare mitochondrial diseases -- Chapter 9. Challenges and future opportunities in Rare Genetic Disorders.

This book introduces different Rare Genetic Disorders (RGDs), and challenges in their diagnosis. The chapters of the book discuss the emerging research and clinical approaches for the diagnosis of rare genetic disorders. It further reviews the future of genetic therapies for the treatment of rare genetic diseases and examine the recent advancements in the field of genetic testing for the diagnosis of these diseases. The book also covers the role of variants in the genome (genetic modifiers) that alleviate (suppress) or exacerbate (enhance) the severity of the disease, resulting in the variability of phenotypic outcomes. Further, the book examines different animal models for critical understanding of disease mechanisms, and the opportunity to evaluate the effect of therapeutic compounds in pre-clinical studies. The subsequent chapters present the state-of-the-art drug discovery strategies and biological approaches for the treatment of rare genetic disorders. Towards the end, the book reviews the current challenges in the diagnosis and treatment of the patients of rare genetic disorders and future opportunities. This book is useful for clinical geneticists, molecular and biochemical geneticists, researchers working in gene therapy and genome editing.

ISBN: 9789819993239

Standard No.: 10.1007/978-981-99-9323-9doiSubjects--Topical Terms:

750480
Genetic disorders.

LC Class. No.: RB155.5

Dewey Class. No.: 616.042

Rare genetic disorders = advancements in diagnosis and treatment /
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245 0 0 $a Rare genetic disorders $h [electronic resource] : $b advancements in diagnosis and treatment / $c edited by Muhammad Umair, Misbahuddin Rafeeq, Qamre Alam.
260 $a Singapore : $b Springer Nature Singapore : $b Imprint: Springer, $c 2024.
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505 0 $a Chapter 1. Introduction to rare genetic disorders -- Chapter 2. Techniques for genetic disorders -- Chapter 3. Prenatal screening and counseling for rare genetic disorders -- Chapter 4. Disease models for Rare Genetic Disorders -- Chapter 5. Research and clinical approaches to undiagnosed rare genetic disorders -- Chapter 6. Drug discovery and development for Rare Genetic Disorders -- Chapter 7. Rare Genetic Disorders: Unraveling the Pathophysiology, Gene Mutations and Therapeutic Advances in Fabry Disease and Marfan Syndrome -- Chapter 8. Current insights into the potential of gene therapy to treat rare mitochondrial diseases -- Chapter 9. Challenges and future opportunities in Rare Genetic Disorders.
520 $a This book introduces different Rare Genetic Disorders (RGDs), and challenges in their diagnosis. The chapters of the book discuss the emerging research and clinical approaches for the diagnosis of rare genetic disorders. It further reviews the future of genetic therapies for the treatment of rare genetic diseases and examine the recent advancements in the field of genetic testing for the diagnosis of these diseases. The book also covers the role of variants in the genome (genetic modifiers) that alleviate (suppress) or exacerbate (enhance) the severity of the disease, resulting in the variability of phenotypic outcomes. Further, the book examines different animal models for critical understanding of disease mechanisms, and the opportunity to evaluate the effect of therapeutic compounds in pre-clinical studies. The subsequent chapters present the state-of-the-art drug discovery strategies and biological approaches for the treatment of rare genetic disorders. Towards the end, the book reviews the current challenges in the diagnosis and treatment of the patients of rare genetic disorders and future opportunities. This book is useful for clinical geneticists, molecular and biochemical geneticists, researchers working in gene therapy and genome editing.
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650 2 4 $a Molecular Genetics. $3 3591651
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700 1 $a Umair, Muhammad. $3 3717979
700 1 $a Rafeeq, Misbahuddin. $3 3717980
700 1 $a Alam, Qamre. $3 3717981
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