Primer on medical genomics part I: History of genetics and sequencing of the human genome.

  title={Primer on medical genomics part I: History of genetics and sequencing of the human genome.},
  author={Cindy Pham Lorentz and Eric D. Wieben and Ayalew Tefferi and David A. H. Whiteman and Gordon W. Dewald},
  journal={Mayo Clinic proceedings},
  volume={77 8},
In comparison with most other disciplines of science, the field of genetics is still in its youth. The majority of scientific work in genetics has been done in the past 150 years. The successful preliminary sequencing of the human genome was announced in 2001. Nonetheless, interest in heredity and in other concepts within the field of genetics has existed since the beginning of humanity. This article provides an account of the history of genetics, spanning from humankind's initial attempts to… 
Primer on medical genomics. Part XIII: Ethical and regulatory issues.
This article describes some but not all aspects of the ethical, legal, and social implications of genomics in clinical practice.
Personalized medicine, genomics, and pharmacogenomics: a primer for nurses.
  • Andrew Blix
  • Medicine, Biology
    Clinical journal of oncology nursing
  • 2014
Nurses need to understand related issues such as the role of genetic and genomic counseling, the ethical and legal questions surrounding genomics, and the growing direct-to-consumer genomics industry to provide advocacy and education for patients and their families.
Microarray approaches to gene expression analysis
A powerful suite of new technologies now makes it possible to measure simultaneously the expression of many thousands of genes directly from a clinical sample, and technologies for measuring gene expression are already beginning to have many applications in clinical diagnosis.
An Historical Perspective on the Clinical Diagnostic Laboratory
Events that, in my opinion, have shaped how and/or why clinical laboratories have arrived at their present position in the practice of medicine are highlighted.
Impact of Paternal Age at Conception on Human Health.
Major health issues associated with an increased paternal age at conception to better model public health systems are summarized and the cases of autism spectrum disorder and schizophrenia are discussed, as well as several childhood cancers.
A practical approach to genetic testing for von Willebrand disease.
This article provides a practical approach to utilization of genetic testing in von Willebrand disease and shows how judicious use will be increasingly important for appropriate genetic-counseling of patients with vWD and their family members.
Impact of molecular medicine on pathophysiology, medical practice, and medical education.
Various aspects of the growing impact of molecular medicine on clinical practice are discussed: diagnostic and predictive testing, gene and targeted therapy, and pharmacogenomics.
Occupational and Environmental Health in the 21st Century: The New Frontier in Genetics and Disease Prevention
This research has profound implications for understanding occupational disease and will present ethical challenges to occupational health practice and the public must be educated about the potential promise and threats posed by emerging genetic technologies.
Mayo Clinic Proceedings 2004: A View of the Present, a Peek at the Future
This journal marks the beginning of the sixth year of a self-improvement initiative described as the “evolution of Mayo Clinic Proceedings,” and it is the editorial board’s goal that journal content become more relevant and more readily accessible to physicians in the authors' target audience.


The application of DNA recombinant technology to the analysis of the human genome and genetic disease
Recombinant DNA technology permits the isolation of libraries of DNA sequences corresponding to either the whole genome of an individual or the expressed sequences of a given cell type, which allows the development of antenatal diagnoses for monogenic diseases even in the absence of an understanding of the biochemical defect.
Molecular genetics of Huntington's disease.
It is to be hoped that cloning and characterizing the disease gene will also yield the necessary information to develop an effective therapy, and this increased capability for DNA markers will soon provide presymptomatic diagnosis for this disorder.
The Sequence of the Human Genome
  • J. Gern
  • Biology, Medicine
  • 2001
Two assembly strategies—a whole-genome assembly and a regional chromosome assembly—were used, each combining sequence data from Celera and the publicly funded genome effort to determine the genetic sequence of the entire human genome.
Joseph Adams (1756-1818): a forgotten founder of medical genetics.
Few systematic accounts of hereditary diseases in man appear to have been published before the twentieth century, but the striking sex-linked character of traits, such as color blindness and hemophilia, had also been established near the end of the eighteenth century and the beginning of the twenties.
Origins of the human genome project
  • J. Watson, R. Cook-Deegan
  • Biology
    FASEB journal : official publication of the Federation of American Societies for Experimental Biology
  • 1991
The purpose of genome projects is to assemble data on the structure of DNA in human chromosomes and those of other organisms, and a second goal is to develop new technologies to perform mapping and sequencing.
The Human Genome
Even in this unpolished state, these two books provide the most comprehensive look at the human genome ever possible; they offer a tantalizing glimpse at the wealth of information contained in the sequence.
The DNA sequence of human chromosome 22
The sequence of the euchromatic part of human chromosome 22 is reported, which consists of 12 contiguous segments spanning 33.4 megabases, contains at least 545 genes and 134 pseudogenes, and provides the first view of the complex chromosomal landscapes that will be found in the rest of the genome.
Human Genome Project.
A century of DNA. A history of the discovery of the structure and function of the genetic substance
A Century of DNA traces the history of DNA research across interrelated subjects, including embryology, biophysics, organic chemistry, histology, physiological chemistry, and genetics, and incorporates biographical material on researchers involved in these discoveries.
Initial sequencing and analysis of the human genome
The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence.