Human Genome Research Summaries

Written by Damien Knight



DeSalle, Rob, and Michael Yudell. Welcome to the genome: a user’s guide to the genetic past, present, and future. Hoboken, NJ: Wiley-Liss, 2005. Print.


Welcome to the Genome: A User’s Guide to  the Past, Present, and Future is a basic introductory to the relatively new field of genomics and its influence on human social and political issues.  Genomics is a merge of many sciences biology included.  The science of genomics started with the ideas of heredity and where we come from. What are our differences or similarities? The answers it came upon were startling. It discussed how race is not biologically supported.  To understand the human genome one has to understand DNA and genetics. Without an understanding of what the building blocks of life were one cannot go forward into genetics. The Human genome itself contains 3 billion units of DNA code that defines the human species. The human genome is 99.9% identical.  Several things had to push the science forward, first basic sequencing of DNA. Then the capability to read the genetic code had to be developed. After which we had to understand how DNA was made. After all this is done we go from examining genes to sequencing the human genome.  The book touches social issues that could be caused by genomics such as genetic discrimination. Still the study of the human genome may help make great strides in the field of medicine. The book also covers how legislation is being made to prevent misuse of genetic information.

The authors are Rob Desalle and Micheal Yudell. Rob Desalle  and Micheal Yudell both have worked at the American Museum of Natural History. Desalle presently works at the Sackler Institute for Comparative Genomics and has assisted in several books on DNA and genetics. Yudell works presently as an assistant professor in the Department of Community Health and Prevention at Drexel University. Like Desalle he has worked on several other books involving the study of DNA. His primary focus is on genetics and health. Welcome to the Genome: A User’s Guide to  the Past, Present, and Future  was published in 2005.

Sternberg, S. (2010, August 10). The human genome: Big advances, many questions. USA Today,

The USA today article focused on how genomics is now a growing field of study in the classroom. Students would learn about themselves by looking at their own DNA. It discusses how it took ten years for the Human Genome project to decode the genome. Now with new technology what took years and over 3 billion dollars now can take weeks and about 10,000 dollars. They also mention that in non-African decent humans our genome carries between 1% and 4% of the genetics of the Neanderthal. The article also discusses how these discoveries created another whole new science called synthetic biology. It discusses how genetic scientists can now using technology it used to dissect the genome can create synthetic cells. It brought up concerns of the future of these synthetic cells and their usage. The article states we are 99.5% identical. This means that one pair to every 5000 varies.

USA today is a popular news publication in the United States. The article itself sources previous articles within the publication’s history concerning the genome and having interviewed people involved. USA Today has a reputation for making the news easy to understand and accessible to the general public. The article was written in 2010.

U.S., GOV. (2008, April 30). Researchers produce first sequence map of large scale structural variation in human genome. Retrieved from

The National Institute of Health produced the first sequence based map of large scale structural variation of the human genome. Small scale variation maps have been made before but with large scale they can see how some diseases, like susceptibility to HIV, might be caused by the placement of DNA structures. Understanding both small and large differences in the human genome can make finding normal differences and abnormal ones easier. The hope is to use this to identify genetic structures that set apart things like Autism. They compared the donor DNA to the DNA sequenced from the completed Human Genome in 2003. If a match was not made, they realized there had to be a structural difference between the samples and recorded these differences. Large scale structural difference according to the article is differences that go between a few thousand to a million DNA Bases. In this project they used the genome of eight people of varying background.

The article was on a government website for the National Institute of Health. Those who participated in the experiment described in the article were top scientists who research for the government. The leading researcher was Evan Eichler. The article was published in 2008 by the NIH News. They sourced another journal, Nature, in which full details of the work had been published.

Gross L (2007) A New Human Genome Sequence Paves the Way for Individualized Genomics. PLoS Biol 5(10): e266. doi:10.1371/journal.pbio.0050266

This article discussed how two of the scientists behind the completion of the Genome sequenced their own genome. J. Craig Venter of Celera not only sequences his genome but publishes it for the public to see. The head of the Human Genome Project, James Watson, also had his own genome sequenced. Unlike Celera’s founder he did not at the time publish it to the public. Public publication is a big deal because this may expose embarrassing genetic deficiencies, but the Celera Leader also hopes that one day such knowledge of each person’s genetics will lead to individualized genetic medicine. He also hopes to publish his own genome will help convince others we need a cheaper way to continue sequencing DNA. While having these sequences are powerful tools to help us learn what causes some diseases, it will not be a solution for everything. Some diseases are also affected by environment so even if you find the genes that cause them a person may or may not develop an illness. A person must not only allow for sequencing but answer a personal history for it to work accurately which Venter did.

This article was a peer reviewed biology publication through PLoS Biology. It was written in 2007. PLoS Biology is a Public Library of Science publication available to the public for public knowledge and use. The author is Liza Gross who has a background in writing science news to help public understanding.

MacDougall, R. (2011, May 19). Researchers identify key to molecular signals in disease affecting Mediterranean populations. Retrieved from

This article discusses genetic research of a specific disease, FMF, or Familial Mediterranean Fever. The study incorporated data gathered from those with FMF and studies done with mice. They learned that FMF resulted from a mutation of one letter in the human Genome. Using this information, they did two studies with knock-out mice or mice with no pyrin and knock-in mice or mice with defective pyrin. The results showed that the second set of mice had similar symptoms of FMF. This meant that the letter change in the human genome affected the function of pyrin and did not affect the production of it. With this knowledge scientist can test drugs for those who have FMF that will be more effective than the ones they have now. They also learned that bone marrow transplants worked to cure it in the mice.  They hope future studies will reveal why FMF is so prevalent in the Mediterranean area.

This article was published on May 19, 2011 making it a recent article. The author is a NHGRI staff writer. The NHGRI, National Human Genome Institute, is a government program that does genetic research. The NHGRI is part of the National institute of health and the study was published in the journal Immunity.


One comment on “Human Genome Research Summaries

  1. Garrile Blog says:

    genetics have always been to me an interesting field of study although I didn’t follow a career in science/biology. Funny enough at a family gathering my cousin who is now finishing his masters degree in genetics, ended up touching on the human genome project explaining that ( If I recall correctly) that was the very first time that produced for the first time an actual human dna sequence.


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