Asunto(s)
Genoma Humano/genética , Genómica/normas , Genómica/tendencias , Cromosomas Humanos/genética , ADN Intergénico/genética , Eucromatina/genética , Haploidia , Historia del Siglo XXI , Proyecto Genoma Humano/historia , Humanos , Proteínas/genética , Estándares de Referencia , Secuencias Repetitivas de Ácidos Nucleicos/genéticaAsunto(s)
Genoma Humano/genética , Genómica/tendencias , África/etnología , Estudio de Asociación del Genoma Completo , Objetivos , Haplotipos/genética , Historia del Siglo XXI , Proyecto Genoma Humano/historia , Migración Humana , Humanos , Polimorfismo de Nucleótido Simple/genética , Grupos Raciales/genéticaAsunto(s)
Genética Médica/estadística & datos numéricos , Genoma Humano/genética , Proyecto Genoma Humano , ADN Intergénico/genética , Descubrimiento de Drogas , Genes/genética , Enfermedades Genéticas Congénitas/genética , Predisposición Genética a la Enfermedad , Genética Médica/tendencias , Historia del Siglo XXI , Proyecto Genoma Humano/historia , Humanos , Terapia Molecular Dirigida , Polimorfismo de Nucleótido Simple/genética , Proteínas/genéticaAsunto(s)
Genoma Humano/genética , Genómica/tendencias , Difusión de la Información , Estudios de Cohortes , Bases de Datos Genéticas/historia , Bases de Datos Genéticas/provisión & distribución , Conjuntos de Datos como Asunto , Predisposición Genética a la Enfermedad , Privacidad Genética , Estudio de Asociación del Genoma Completo , Genómica/historia , Genómica/organización & administración , Historia del Siglo XX , Historia del Siglo XXI , Proyecto Genoma Humano/historia , Humanos , Difusión de la Información/historia , National Institutes of Health (U.S.) , Publicación de Acceso Abierto/historia , Publicación de Acceso Abierto/tendencias , Propiedad , Reproducibilidad de los Resultados , Estados UnidosAsunto(s)
Variación Genética , Genoma Humano/genética , Genómica/ética , Genómica/tendencias , Equidad en Salud , Difusión de la Información , Publicación de Acceso Abierto , Recolección de Datos/ética , Recolección de Datos/normas , Bases de Datos Factuales/ética , Bases de Datos Factuales/normas , Privacidad Genética/ética , Genética Médica/tendencias , Genómica/historia , Disparidades en Atención de Salud , Historia del Siglo XX , Historia del Siglo XXI , Proyecto Genoma Humano/historia , Humanos , Pueblos Indígenas/genética , Difusión de la Información/historia , Almacenamiento y Recuperación de la Información , Consentimiento Informado/ética , Cooperación Internacional , Publicación de Acceso Abierto/historia , Grupos Raciales/genética , SARS-CoV-2/genética , Factores de TiempoRESUMEN
Between 1988 and 2007, during the courses of the European School of Genetic Medicine, many of us had the opportunity to appreciate the tolerant and open-minded personality of Victor McKusick. He was gifted with a unique foresight for the innovations introduced into medicine through the development of the Human Genome Project. The aim of our separate contributions in this article is to document how his insights had an important impact on the European medical training system.
Asunto(s)
Genética Médica/historia , Proyecto Genoma Humano/historia , Europa (Continente) , Genética Médica/educación , Historia del Siglo XX , Historia del Siglo XXI , HumanosRESUMEN
The Human Genome Organization (HUGO) was initially established in 1988 to help integrate international scientific genomic activity and to accelerate the diffusion of knowledge from the efforts of the human genome project. Its founding President was Victor McKusick. During the late 1980s and 1990s, HUGO organized lively gene mapping meetings to accurately place genes on the genome as chromosomes were being sequenced. With the completion of the Human Genome Project, HUGO went through some transitions and self-reflection. In 2020, HUGO (which hosts a large annual scientific meeting and comprises the renowned HUGO Gene Nomenclature Committee [HGNC], responsible for naming genes, and an outstanding Ethics Committee) was merged with the Human Genome Variation Society (HGVS; which defines the correct nomenclature for variation description) and the Human Variome Project (HVP; championed by the late Richard Cotton) into a single organization that is committed to assembling human genomic variation from all over the world. This consolidated effort, under a new Executive Board and seven focused committees, will facilitate efficient and effective communication and action to bring the benefits of increasing knowledge of genome diversity and biology to people all over the world.
Asunto(s)
Bases de Datos Genéticas/historia , Genoma Humano/genética , Genética Humana/historia , Proyecto Genoma Humano/historia , Variación Genética/genética , Genómica/historia , Historia del Siglo XX , HumanosRESUMEN
Victor Almon McKusick (VAM) is widely recognized as the father of the field of medical genetics. He established one of the first medical genetics clinics in the United States at Johns Hopkins in 1957 and developed a robust training program with the tripartite mission of education, research, and clinical care. Thousands of clinicians and scientists were educated over the years through the Short Course in Medical and Molecular Genetics, which VAM founded with Dr. Thomas Roderick in 1960. His Online Mendelian Inheritance in Man (OMIM), a catalog of human genes and genetic disorders, serves as the authoritative reference for geneticists around the globe. Throughout his career he was an advocate for mapping the human genome. He collaborated with Dr. Frank Ruddle in founding the International Human Gene Mapping Workshops in the early 70's and was an avid proponent of the Human Genome Project. He was the founding President of the Human Genome Organization and a founding editor of the journal Genomics. His prodigious contributions to the field of medical genetics were recognized by multiple honors, culminating with the Japan Prize in 2008.
Asunto(s)
Bases de Datos Genéticas/historia , Genética Médica/historia , Genoma Humano/genética , Distinciones y Premios , Mapeo Cromosómico , Historia del Siglo XX , Historia del Siglo XXI , Proyecto Genoma Humano/historia , Humanos , Estados UnidosRESUMEN
Dr. Victor McKusick was a founding member of the joint NIH-DOE working group that designed the federal effort to address the ethical, legal, and social implications of the US Human Genome Project in 1989. A key feature of this effort was its commitment to anticipating genomics-driven questions before they became urgent practical dilemmas, by complementing the scientific effort to map and sequence the human genome with projects by a wide range of social scientists, humanities scholars, legal experts, and public educators designed to equip society with the foresight required to optimize the public welfare benefits of new genomic information. This article describes the origins of that experiment and the model of anticipatory science policy that it produced, as one piece of Dr. McKusick's extraordinary intellectual legacy.
Asunto(s)
Investigación Genética/historia , Genoma Humano/genética , Genómica/historia , Proyecto Genoma Humano/historia , Historia del Siglo XX , Historia del Siglo XXI , HumanosRESUMEN
Victor McKusick's contributions to the field of medical genetics are legendary and include his contributions as a mentor, as creator of Mendelian Inheritance in Man (now Online Mendelian Inheritance in Man [OMIM®]), and as a leader in the field of medical genetics. McKusick's full bibliography includes 772 publications. Here we review the 453 papers authored by McKusick and indexed in PubMed, from his earliest paper published in the New England Journal of Medicine in 1949 to his last paper published in American Journal of Medical Genetics Part A in 2008. This review of his bibliography chronicles McKusick's evolution from an internist and cardiologist with an interest in genetics to an esteemed leader in the growing field of medical genetics. Review of his bibliography also provides a historical perspective of the development of the discipline of medical genetics. This field came into its own during his lifetime, transitioning from the study of interesting cases and families used to codify basic medical genetics principles to an accredited medical specialty that is expected to transform healthcare. Along the way, he helped to unite the fields of medical and human genetics to focus on mapping the human genome, culminating in completion of the Human Genome Project. This review confirms the critical role played by Victor McKusick as the founding father of medical genetics.
Asunto(s)
Bases de Datos Genéticas/historia , Genética Médica/historia , Genoma Humano/genética , Historia del Siglo XX , Historia del Siglo XXI , Proyecto Genoma Humano/historia , Humanos , Estados UnidosRESUMEN
John Sulston changed the way we do science, not once, but three times - initially with the complete cell lineage of the nematode Caenorhabditis elegans, next with completion of the genome sequences of the worm and human genomes and finally with his strong and active advocacy for open data sharing. His contributions were widely recognized and in 2002 he received the Nobel Prize in Physiology and Medicine.
Asunto(s)
Biología Evolutiva/historia , Neurociencias/historia , Animales , Caenorhabditis elegans/citología , Caenorhabditis elegans/embriología , Caenorhabditis elegans/genética , Caenorhabditis elegans/fisiología , Linaje de la Célula , Clonación Molecular/métodos , Mapeo Contig/historia , Criopreservación , Biblioteca de Genes , Genoma , Historia del Siglo XX , Historia del Siglo XXI , Proyecto Genoma Humano/historia , Humanos , Larva , Sistema Nervioso/citología , Sistema Nervioso/embriología , Sistema Nervioso/crecimiento & desarrollo , Neuronas/citología , Análisis de Secuencia de ADN/historia , Transmisión SinápticaAsunto(s)
Ética en Investigación , Publicaciones Periódicas como Asunto/historia , Publicaciones Periódicas como Asunto/normas , Investigación/historia , Investigación/tendencias , Animales , Aniversarios y Eventos Especiales , Astronomía/historia , Autoria , ADN/química , ADN/historia , Ética en Investigación/historia , Fósiles , Calentamiento Global/legislación & jurisprudencia , Calentamiento Global/prevención & control , Calentamiento Global/estadística & datos numéricos , Procesos de Grupo , Historia del Siglo XIX , Historia del Siglo XX , Historia del Siglo XXI , Hominidae , Proyecto Genoma Humano/historia , Humanos , Cooperación Internacional , Ozono/análisis , Ozono/historia , Paleontología/historia , Revisión de la Investigación por Pares , Publicaciones Periódicas como Asunto/tendencias , Física/historia , Reproducibilidad de los Resultados , Investigación/educación , Investigación/normasAsunto(s)
Genómica/historia , Biología Molecular/historia , Repeticiones Palindrómicas Cortas Agrupadas y Regularmente Espaciadas , Enfermedades Genéticas Congénitas/diagnóstico , Enfermedades Genéticas Congénitas/terapia , Genética Médica/historia , Genómica/ética , Historia del Siglo XX , Historia del Siglo XXI , Proyecto Genoma Humano/historia , Humanos , National Academies of Science, Engineering, and Medicine, U.S., Health and Medicine Division/historia , Estados UnidosRESUMEN
The Human Genome Project (HGP) is one of the most important international achievements in life sciences, to which Japanese scientists made remarkable contributions. In the early 1980s, Akiyoshi Wada pioneered the first project for the automation of DNA sequencing technology. Ken-ichi Matsubara exhibited exceptional leadership to launch the comprehensive human genome program in Japan. Hideki Kambara made a major contribution by developing a key device for high-speed DNA sequencers, which enabled scientists to construct human genome draft sequences. The RIKEN team led by Yoshiyuki Sakaki (the author) played remarkable roles in the draft sequencing and completion of chromosomes 21, 18, and 11. Additionally, the Keio University team led by Nobuyoshi Shimizu made noteworthy contributions to the completion of chromosomes 22, 21, and 8. In April 2003, the Japanese team joined the international consortium in declaring the completion of the human genome sequence. Consistent with the HGP mandate, Japan has successfully developed a wide range of ambitious genomic sciences.
Asunto(s)
Proyecto Genoma Humano/historia , Historia del Siglo XX , Historia del Siglo XXI , Humanos , JapónRESUMEN
A common account sees the human genome sequencing project of the 1990s as a "natural outgrowth" of the deciphering of the double helical structure of DNA in the 1950s. The essay aims to complicate this neat narrative by putting the spotlight on the field of human chromosome research that flourished at the same time as molecular biology. It suggests that we need to consider both endeavors - the human cytogeneticists who collected samples and looked down the microscope and the molecular biologists who probed the molecular mechanisms of gene function - to understand the rise of the human genome sequencing project and the current genomic practices. In particular, it proposes that what has often been described as the "molecularization" of cytogenetics could equally well be viewed as the turn of molecular biologists to human and medical genetics - a field long occupied by cytogeneticists. These considerations also have implications for the archives that are constructed for future historians and policy makers.
Asunto(s)
Cromosomas Humanos/genética , Genoma Humano , Genómica/historia , Proyecto Genoma Humano/historia , Biología Molecular/historia , Historia del Siglo XX , Historia del Siglo XXI , HumanosRESUMEN
The genomics community has frequently compared advances in sequencing to advances in microelectronics. Lately there have been many claims, including by the National Human Genome Research Institute (NHGRI), that genomics is outpacing developments in computing as measured by Moore's law - the notion that computers double in processing capability per dollar spent every 18-24 months. Celebrations of the "$1000 genome" and other speed-related sequencing milestones might be dismissed as a distraction from genomics' slowness in delivering clinical breakthroughs, but the fact that such celebrations have been persistently encouraged by the NHGRI reveals a great deal about the priorities and expectations of the American general public, the intended audience of the genomics-computing comparison. By delving into the history of speculative thinking about sequencing and computing, this article demonstrates just how much more receptive to high-risk/high-payoff ventures the NIH and the general public have become. The article also provides access to some of the roots and consequences of the association of "innovation talk" with genomics, and the means to look past that association to the less glamorous (but arguably much more important) contributions of the NHGRI to building the field of genomics.
Asunto(s)
Computadores/estadística & datos numéricos , Genómica/historia , Proyecto Genoma Humano/historia , Invenciones/estadística & datos numéricos , National Human Genome Research Institute (U.S.)/historia , Genómica/instrumentación , Historia del Siglo XX , Historia del Siglo XXI , Estados UnidosRESUMEN
In this article we examine the history of the production of microarray technologies and their role in constructing and operationalizing views of human genetic difference in contemporary genomics. Rather than the "turn to difference" emerging as a post-Human Genome Project (HGP) phenomenon, interest in individual and group differences was a central, motivating concept in human genetics throughout the twentieth century. This interest was entwined with efforts to develop polymorphic "genetic markers" for studying human traits and diseases. We trace the technological, methodological and conceptual strategies in the late twentieth century that established single nucleotide polymorphisms (SNPs) as key focal points for locating difference in the genome. By embedding SNPs in microarrays, researchers created a technology that they used to catalog and assess human genetic variation. In the process of making genetic markers and array-based technologies to track variation, scientists also made commitments to ways of describing, cataloging and "knowing" human genetic differences that refracted difference through a continental geographic lens. We show how difference came to matter in both senses of the term: difference was made salient to, and inscribed on, genetic matter(s), as a result of the decisions, assessments and choices of collaborative and hybrid research collectives in medical genomics research.
Asunto(s)
Marcadores Genéticos , Genómica/historia , Análisis de Secuencia por Matrices de Oligonucleótidos/historia , Polimorfismo de Nucleótido Simple , Historia del Siglo XX , Proyecto Genoma Humano/historia , HumanosRESUMEN
The Bermuda Principles for DNA sequence data sharing are an enduring legacy of the Human Genome Project (HGP). They were adopted by the HGP at a strategy meeting in Bermuda in February of 1996 and implemented in formal policies by early 1998, mandating daily release of HGP-funded DNA sequences into the public domain. The idea of daily sharing, we argue, emanated directly from strategies for large, goal-directed molecular biology projects first tested within the "community" of C. elegans researchers, and were introduced and defended for the HGP by the nematode biologists John Sulston and Robert Waterston. In the C. elegans community, and subsequently in the HGP, daily sharing served the pragmatic goals of quality control and project coordination. Yet in the HGP human genome, we also argue, the Bermuda Principles addressed concerns about gene patents impeding scientific advancement, and were aspirational and flexible in implementation and justification. They endured as an archetype for how rapid data sharing could be realized and rationalized, and permitted adaptation to the needs of various scientific communities. Yet in addition to the support of Sulston and Waterston, their adoption also depended on the clout of administrators at the US National Institutes of Health (NIH) and the UK nonprofit charity the Wellcome Trust, which together funded 90% of the HGP human sequencing effort. The other nations wishing to remain in the HGP consortium had to accommodate to the Bermuda Principles, requiring exceptions from incompatible existing or pending data access policies for publicly funded research in Germany, Japan, and France. We begin this story in 1963, with the biologist Sydney Brenner's proposal for a nematode research program at the Laboratory of Molecular Biology (LMB) at the University of Cambridge. We continue through 2003, with the completion of the HGP human reference genome, and conclude with observations about policy and the historiography of molecular biology.
Asunto(s)
Genómica/historia , Proyecto Genoma Humano/historia , Difusión de la Información/historia , Biología Molecular/historia , Política Organizacional , Bermudas , Genómica/legislación & jurisprudencia , Genómica/normas , Historia del Siglo XX , Historia del Siglo XXI , Proyecto Genoma Humano/legislación & jurisprudencia , Humanos , Difusión de la Información/legislación & jurisprudencia , Difusión de la Información/métodos , Reino Unido , Estados UnidosRESUMEN
The sequence of the human genome has dramatically accelerated biomedical research. Here I explore its impact, in the decade since its publication, on our understanding of the biological functions encoded in the genome, on the biological basis of inherited diseases and cancer, and on the evolution and history of the human species. I also discuss the road ahead in fulfilling the promise of genomics for medicine.