Implications of the Human Genome for Understanding Human Biology and Medicine

Abstract

Clinical researchers, practicing physicians, patients, and the general public now live in a world in which the 2.9 billion nucleotide codes of the human genome are available as a resource for scientific discovery. Some of the findings from the sequencing of the human genome were expected, confirming knowledge presaged by many decades of research in both human and comparative genetics. Other findings are unexpected in their scientific and philosophical implications. In either case, the availability of the human genome is likely to have significant implications, first for clinical research and then for the practice of medicine. This article provides our reflections on what the new genomic knowledge might mean for the future of medicine and how the new knowledge relates to what we knew in the era before the availability of the genome sequence. In addition, practicing physicians in many communities are traditionally also ambassadors of science, called on to translate arcane data or the complex ramifications of biology into a language understood by the public at large. This article also may be useful for physicians who serve in this capacity in their communities. We address the following issues: the number of protein-coding genes in the human genome and certain classes of noncoding repeat elements in the genome; features of genome evolution, including large-scale duplications; an overview of the predicted protein set to highlight prominent differences between the human genome and other sequenced eukaryotic genomes; and DNA variation in the human genome. In addition, we show how this information lays the foundations for ongoing and future endeavors that will revolutionize biomedical research and our understanding of human health.

The challenges for molecular nutrition research 1: linking genotype to healthy nutrition

“…Sequencing of the human genome in 2001 [57] revealed not only fewer human genes than expected (latest estimates in the region of 22,000 [6]), but also significant genetic heterogeneity within human populations. Approximately 3.4 million single nucleotide polymorphisms (SNPs) (dbSNP [11]) have been detected to date.…”

Exploring the Public Understanding of Basic Genetic Concepts

“…There are likely to be many areas of medicine and public health affected by genetics in the near future, with immense opportunity for far-reaching benefits (Subramanian, Adams, Venter, & Broder, 2001;Williams, 2001). These benefits, however, can be enhanced if people have an understanding of basic genetic concepts and terminology (Burke et al, 2002).…”

Tasisulam Sodium, an Antitumor Agent That Inhibits Mitotic Progression and Induces Vascular Normalization

“…Xenografts were grown to an average tumor volume of 200 mm 3 , and the mice were randomized at baseline according to tumor volume and body weight (n ¼ 8). Physiologic saline and tasisulam doses were administered daily by intravenous injection for 5 days followed by 2 days of rest.…”

“…The human genome project has provided hope for a new era of cancer therapeutics by identifying novel molecular targets for drug discovery (3)(4)(5). Despite the promise of genomics-centered drug discovery, it is likely that phenotypic-based approaches will continue to play a valuable, complementary role through interrogation of the cell as a target (6)(7)(8).…”