03979nam a22005415i 4500 978-981-99-9323-9 DE-He213 20251030112031.0 cr nn 008mamaa 240507s2024 si | s |||| 0|eng d 9789819993239 978-981-99-9323-9 10.1007/978-981-99-9323-9 doi QH426-470 PSAK bicssc SCI029000 bisacsh PSAK thema Rare Genetic Disorders [electronic resource] : Advancements in Diagnosis and Treatment / edited by Muhammad Umair, Misbahuddin Rafeeq, Qamre Alam. 1st ed. 2024. Singapore : Springer Nature Singapore : Imprint: Springer, 2024. XIII, 275 p. 1 illus. online resource. text txt rdacontent computer c rdamedia online resource cr rdacarrier text file PDF rda 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. Genetics. 68863 Molecular genetics. Medical genetics. 64976 Genetics and Genomics. 68866 Molecular Genetics. Medical Genetics. 64976 Umair, Muhammad. editor. edt http://id.loc.gov/vocabulary/relators/edt 76495 Rafeeq, Misbahuddin. editor. edt http://id.loc.gov/vocabulary/relators/edt 76496 Alam, Qamre. editor. edt http://id.loc.gov/vocabulary/relators/edt 76497 SpringerLink (Online service) Springer Nature eBook Printed edition: 9789819993222 Printed edition: 9789819993246 Printed edition: 9789819993253 https://doi.org/10.1007/978-981-99-9323-9 ZDB-2-SME ZDB-2-SXM 59702 59702