Genes and Disease is a collection of articles that discuss genes and the diseases that they cause. These genetic disorders are organized by the parts of the body that they affect. As some diseases affect many body systems, they appear in more than one chapter.
One goal of genetic research is to better understand the mechanisms of disease so that new treatment approaches and preventative measures can be proposed. Technology has come a long way in this regard, and it is currently possible to simultaneously interrogate almost one million sites in any individual’s genomic DNA with the goal of finding associations between a given disease and genetic variation. However, technological advances have also created new problems for scientists, such as how best to handle the millions of data points involved in genetic studies of disease. Mathematical and statistical models must be improved to accommodate the growing amount of data generated by today’s research. Scientists must also continue to rethink clinical descriptions of disease.
Because researchers now understand that the genetic contribution to many diseases is complex and that the same disease does not manifest in the same way in all people, descriptions that involve gradients of sickness and health are typically more effective than those that classify individuals as either “sick” or “healthy.”
A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes).
With each genetic disorder, the underlying mutation(s) is discussed, along with clinical features and links to key websites. We can browse through the articles online, and we can also download a printable file (PDF) of each chapter.
From Genes and Disease we can delve into many online related resources with free and full access. For example, we can visit the human genome to see the location of the genes implicated in each disorder. We can also find related gene sequences in different organisms. And for the very latest information, we can search for complete research articles, and look in other books in the NCBI Bookshelf. Currently over 80 genetic disorders have been summarized, and the content of Genes and Disease is continually growing.
The sequence of the human genome is providing us with the first holistic view of our genetic heritage. While not yet complete, continued refinement of the data brings us ever closer to a complete human genome reference sequence. This will be a fundamental resource in future biomedical research.
Most of the genetic disorders featured on this web site are the direct result of a mutation in one gene. However, one of the most difficult problems ahead is to find out how genes contribute to diseases that have a complex pattern of inheritance, such as in the cases of diabetes, asthma, cancer and mental illness. In all these cases, no one gene has the yes/no power to say whether a person has a disease or not. It is likely that more than one mutation is required before the disease is manifest, and a number of genes may each make a subtle contribution to a person’s susceptibility to a disease; genes may also affect how a person reacts to environmental factors.