Titlebook: Rare Genetic Disorders; Advancements in Diag Muhammad Umair,Misbahuddin Rafeeq,Qamre Alam Book 2024 The Editor(s) (if applicable) and The A

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Drug Discovery and Development for Rare Genetic Disorders,ologies for orphan diseases are discussed. Genome and pharmacogenetics studies provide interpretation for the disease etiology and treatment. Regarding the road map of small-molecule drug development, building up a compound library and bioassay development, virtual and experimental screening, hit co

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Rare Genetic Disorders: Unraveling the Pathophysiology, Gene Mutations, and Therapeutic Advances inre integral components of Fabry disease management. Marfan syndrome is primarily associated with mutations in the FBN1 gene, encoding truncated or nonfunctional fibrillin-1. Altered fibrillin-1 structure disrupts connective tissue homeostasis, resulting in diverse clinical manifestations. Pathophysi

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Current Insights into the Potential of Gene Therapy to Treat Rare Mitochondrial Diseases,s therapy is still in its early stages, further research is needed to determine its effectiveness and safety. This chapter explores the biology of the mitochondria, mutations, and prospective uses of gene therapy in the future to treat rare mitochondrial diseases.

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Challenges and Future Opportunities in Rare Genetic Disorders: A Comprehensive Review,pment costs and little commercial potential. Next-generation sequencing (NGS) has greatly shortened diagnosis time. Genome or exome sequencing can discover causative mutations even in rare or undiagnosed illnesses. This technology and global collaborative networks like the Undiagnosed Diseases Netwo

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K. Kumaran,Suruthi Abirami,Abna Ajeesh,J. Hemarangan,T. L. Vasanth Kanth,P. Shriya,K. N. Aruljothid behavioral science, are described among the 300 authoritative yet highly readable entries. Students will find a world of information and insight behind the familiar façade of the social networks in which they978-1-4614-6170-8

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Nithar Ranjan Madhu,Goutam Biswas,Soumosish Paul,Suman Adhikari,Bhanumati Sarkar,Misbahuddin M. Rafed behavioral science, are described among the 300 authoritative yet highly readable entries. Students will find a world of information and insight behind the familiar façade of the social networks in which they978-1-4614-6170-8

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he 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 978-981-99-9325-3978-981-99-9323-9