03651nam a22004575i 4500001001800000003000900018005001700027007001500044008004100059020001800100024003500118050001400153072001700167072002300184072001600207245015400223250001800377264007200395300004400467336002600511337002600537338003600563347002400599505071600623520127301339650001402612650002402626650002202650650002702672650002402699650002202723700007802745700008202823700007402905710003402979773002603013776003603039776003603075776003603111856004603147978-981-99-9323-9DE-He21320251030112031.0cr nn 008mamaa240507s2024    si |    s    |||| 0|eng d  a97898199932397 a10.1007/978-981-99-9323-92doi 4aQH426-470 7aPSAK2bicssc 7aSCI0290002bisacsh 7aPSAK2thema10aRare Genetic Disordersh[electronic resource] :bAdvancements in Diagnosis and Treatment /cedited by Muhammad Umair, Misbahuddin Rafeeq, Qamre Alam.  a1st ed. 2024. 1aSingapore :bSpringer Nature Singapore :bImprint: Springer,c2024.  aXIII, 275 p. 1 illus.bonline resource.  atextbtxt2rdacontent  acomputerbc2rdamedia  aonline resourcebcr2rdacarrier  atext filebPDF2rda0 aChapter 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.  aThis 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. 0aGenetics. 0aMolecular genetics. 0aMedical genetics.14aGenetics and Genomics.24aMolecular Genetics.24aMedical Genetics.1 aUmair, Muhammad.eeditor.4edt4http://id.loc.gov/vocabulary/relators/edt1 aRafeeq, Misbahuddin.eeditor.4edt4http://id.loc.gov/vocabulary/relators/edt1 aAlam, Qamre.eeditor.4edt4http://id.loc.gov/vocabulary/relators/edt2 aSpringerLink (Online service)0 tSpringer Nature eBook08iPrinted edition:z978981999322208iPrinted edition:z978981999324608iPrinted edition:z978981999325340uhttps://doi.org/10.1007/978-981-99-9323-9