[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-569192-105":59,"doc-detail-569192-en":130},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":123,"head_meta":125,"extra_data":127,"updated_unix":129},105,"en","the-new-human-genetics-how-gene-splicing-helps-researchers-fight-inherited-disease","THE NEW HUMAN GENETICS - HOW GENE SPLICING HELPS RESEARCHERS FIGHT INHERITED DISEASE","","National Institute of General Medical Sciences (NIGMS) outlines how gene-splicing advances research that helps address inherited disease. The brochure explains NIGMS’s role in supporting basic medical science, including cell and molecular biology and genetics, and highlights interdisciplinary studies. It describes the evolution of prenatal detection methods—from blood-based approaches to DNA analysis—then introduces recombinant DNA techniques and genetic tools that identify disease-related genes and DNA 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General Medi-cal Sciences(NIGMS)is unique amongthe components of the National Insti-tutes of Health (NIH)in that its mainmission is the advancement of the basicmedical sciences.It supports selectedresearch and research training programsin areas that underlie all medical investi-gation,such as cell and molecular biol-ogy and genetics.Ten of the scientistswhom it funded have won Nobel Prizessince 1970 for their pioneering work onthe structure and function of genetic ma-terial,the action of hormones,and thestructure of the cell.Knowledge resultingfrom this work contributes directly to theprogress of research on specific dis-eases in the other Institutes of NIH.NIGMS also develops and supports in-terdisciplinary studies in biophysics,pharmacology,biorelated chemistry,physiology,and trauma and burn re-search.Many of the researchers men-tioned in this brochure worked withNIGMS support.  \nTHE NEWHUMAN GENETICS  \nHOW GENE SPLICING  \nHELPS RESEARCHERS FIGHTINHERITED DISEASE  \nU.S.DEPARTMENT OF HEALTHAND HUMAN SERVICESPublic Health ServiceNational Institutes of HealthNational Institute ofGeneral Medical Sciences  \nWritten by Maya Pines under contract 263-MD-332131-2Produced by the Office of Research ReportsNational Institute of General Medical Sciences  \nIntroduction…………………………………………………………………………………………5  \nThe Beginning of Human Genetics…………………………………………………………8  \nUnlocking the Secrets of DNA…………………………………………………………………………14  \nThe Development of  \nRecombinant DNA Techniques……………………………………………………………18  \nA New Understanding of  \nSickle-Cell Disease and  \nOther Blood Disorders …………………………………………………………………………………………22  \nHow to Use DNA Fragments  \noDetect a Disease……………………………………………………  \n…………………………………………………………25  \nHow DNA Probes  \nFind Their Match……………………………………………………  \n…………………………………………………………28  \nStalking the Most  \nElusive Genes ………………………………………………………………  \n………………………………………………………………31  \nThe Rapid Growth of  \nGene Mapping……………………………………………………………………………………………………………36  \nZeroing in on  \nCancer Genes……………………………………………………………  \n………………………………………………………………44  \nA Bank of Living  \nHuman Cells……………………………………………………………………………………………………………………………………………47  \nGenBank: A National  \nDatabase of  \nNucleic Acid Sequences………………………………………………  \n………………………………………………………52  \nThe Promise of  \nGenetic Therapy…………………………………………………………………  \n……………………………………………………53  \nGlossary………………………………………………………………………………  \n………………………………………………56  \nWith the aid of new techniques,geneticistsdetermined that this baby had inherited onlyone of his parents'genes for thalassemia andwill be unaffected by this blood disorder.  \n# INTRODUCTION\n\nAt first the young couple from Be-thesda,Maryland,thought theywould never dare to have childrenof their own.Though they were per-fectly healthy,they knew that theyboth carried a gene for thalassemia,a life-threatening hereditary blooddisease.Any child of theirs wouldhave a 25 percent chance of inherit-ing a double dose of this gene andacquiring the disease—a chancethey were not willing to take.  \nThey changed their minds in thelate 1970's,when more sensitivetests of red blood cells allowed sci-entists to detect this genetic disordereven in fetal blood.At about thesame time,it became possible towithdraw blood samples from thefetus through a technique calledfetoscopy.  \nThe young woman became preg-nant in 1979 and went to be testedat the Yale University MedicalSchool's Genetics Center in NewHaven,Connecticut,much of whosebasic research is supported by theNational Institute of General Medi-cal Sciences(NIGMS).To her in-tense relief,she learned that the fe-tus was unaffected by the disease.The baby is now a healthy and ac-tive preschooler.However,the pro-cedure is not without hazard and hisparents were not too eager to risk itagain.  \nBy 1982,the science of humangenetics had advanced so muchthat it was no longer necessary totake ","cbCaid2QPuK7gubh","https://ap.wps.com/l/cbCaid2QPuK7gubh","pdf",4009331,68,"English","# Introduction\n# The Beginning of Human Genetics\n# Unlocking the Secrets of DNA\n# The Development of Recombinant DNA Techniques\n# A New Understanding of Sickle-Cell Disease and Other Blood Disorders\n# How to Use DNA Fragments to Detect a Disease\n# How DNA Probes Find Their Match\n# Stalking the Most Elusive Genes\n# The Rapid Growth of Gene Mapping\n# Zeroing in on Cancer Genes\n# A Bank of Living Human Cells\n# GenBank: A National Database of Nucleic Acid Sequences\n# The Promise of Genetic Therapy\n# Glossary","[{\"question\":\"What is the main mission of NIGMS according to the brochure?\",\"answer\":\"NIGMS is focused on advancing the basic medical sciences underlying all medical investigation, including genetics and related fields.\"},{\"question\":\"How did prenatal detection of thalassemia shift over time?\",\"answer\":\"Early approaches involved detecting the disorder through fetal blood and later shifted to safer sampling combined with direct DNA analysis from fetal cells.\"},{\"question\":\"What role do recombinant DNA (gene-splicing) techniques play in the research described?\",\"answer\":\"The brochure presents gene-splicing as enabling scientists to examine DNA and genetic errors more directly, supporting diagnosis and expanding understanding of inherited diseases.\"}]","THE NEW HUMAN GENETICS - HOW GENE SPLICING HELPS RESEARCHERS FIGHT INHERITED DISEASE | PDF",1791874472,171]