(a) |
Identify questions to investigate related to genetics. |
(b) |
Provide examples of genetic conditions whose causes and cures are not understood according to current scientific and technological knowledge (e.g., some causes of male infertility, cystic fibrosis, Down’s syndrome, and muscular dystrophy). |
(c) |
Recognize that the nucleus of a cell contains genetic information and identify the relationship among chromosomes, genes, and DNA in transmitting genetic information. |
(d) |
Identify examples of dominant and recessive traits in humans and other living things. |
(e) |
Observe, collect, and analyze class and/or family data of human traits that may be inherited from parents (e.g., eye colour, chin shape, ear lobes, and tongue rolling). |
(f) |
Discuss environmental factors and personal choices that may lead to changes in a cell’s genetic information (e.g., toxins, carcinogens, pesticides, smoking, overexposure to sunlight, and alcohol abuse). |
(g) |
Provide examples of Saskatchewan and Canadian contributions to the science and technology of genetics and reproductive biology in plants and animals. |
(h) |
Select and synthesize information from various sources to illustrate how developments in genetics, including gene therapy and genetic engineering, have had an impact on global and local food production, populations, the spread of disease, and the environment. |
(i) |
Describe careers in Saskatchewan or Canada that require an understanding of genetics or reproductive biology. |
This episode also covers the next leap forward - recombinant DNA or genetic engineering - and the initial alarm that this caused in the 1970s among the scientists themselves, which led to public protests against this new technology. Once these initial fears were dispelled, both the biotech industry and the new revolution in DNA technology began in earnest. Also features Nobel laureates Joshua Lederberg and James Watson.
Two sets of clues led to the discovery of the double helix structure of DNA, one from physics and the other from chemistry. James Watson recounts how he and Francis Crick put these clues together for the first time. The poignant story of Rosalind Franklin, whose X-ray data they relied upon, is recounted by her closest colleague, Sir Aaron Klug. Four Nobel laureates are featured in the film, including Sydney Brenner, another founder of molecular genetics.
The history of research on the reproductive system is presented and the future of research in this field is considered. Current controversies and dilemmas are also explored. Reproductive system diseases and disorders, symptoms and treatments are discussed, including infertility, sexually transmitted diseases such as HIV and AIDS, complications with pregnancy and genetic diseases such as Huntington's disease. This book includes a glossary, resources for further information and contact information for organizations and national health institutions.
The next task is to work out the function of the proteins produced by these genes. Since many different proteins can be derived from the same gene, this a daunting long term project. Protein function is studied using experimental techniques such as "site-directed mutagenesis," which is explained by its inventor, Canadian Nobel laureate Michael Smith. The "holy grail" of genomics is to program computers to predict the function of a protein from the sequence of its gene - still a distant goal. Another challenge will be to work out which genes act together in networks to produce a "complex" trait. A key tool in uncovering these networks is the gene chip, which is explained in a visual, easy to understand way.
Small variations in our DNA play a crucial role in disease. The most important human diseases are caused by combinations of variant genes, interacting with environmental and lifestyle factors. These variant networks are far more difficult to track down than the single mutations that cause classic genetic diseases like cystic fibrosis. One way around this problem is to study isolated populations with a high incidence of a particular disease. One such group is the Cochin Jews of Israel, who suffer from a very high rate of asthma. The end result will be a new kind of medicine, based on genetic testing and prevention rather than after-the-fact diagnosis and treatment. This episode also features John Sulston, Eric Lander, Sydney Brenner and Joshua Lederberg.
These key technologies gave scientists the first maps of the human genome, which in turn allowed them to hunt down human genes, with no prior knowledge of their location. This culminated in the 1989 discovery of the gene for cystic fibrosis, which was the finish line for an exciting international race. We are guided by Sir Alec Jeffries, the inventor of DNA fingerprinting; Hamilton Smith, who won a Nobel Prize for discovering the key tool of restriction enzymes; Michael Smith, who won a Nobel Prize for a DNA-based technique to create pinpoint mutations, and Lap-Chee Tsui, who led the Toronto team that won the race to the cystic fibrosis gene.
The major surprise was how few genes there actually are in the human genome. We compensate in part by using RNA splicing to create different proteins from the same gene. Having the complete sequence at hand has greatly simplified the search for new disease genes and created the new fields of genomics and bioinformatics. To illustrate all this, we focus on Chromosome 7 and one of its most fascinating stories, that of Williams Syndrome, which produces an unusual mix of mental deficits, strengths, musical talent and affability. We meet A.J., a Williams Syndrome kid in San Diego who plays a mean set of drums.