Genetic Variation And Human Disease

Recent developments in molecular and computational methods have made it possible to identify the genetic basis of any biological trait, and have led to spectacular advances in the study of human disease. This book provides an overview of the concepts and methods needed to understand the genetic basis of biological traits, including disease, in humans. Using examples of qualitative and quantitative phenotypes, Professor Weiss shows how genetic variation may be quantified, and how relationships between genotype and phenotype may be inferred. This book will appeal to many biologists and biological anthropologists interested in the genetic basis of biological traits, as well as to epidemiologists, biomedical scientists, human geneticists and molecular biologists.

The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.

This book assesses the scientific value and merit of research on human genetic differencesâ€"including a collection of DNA samples that represents the whole of human genetic diversityâ€"and the ethical, organizational, and policy issues surrounding such research. Evaluating Human Genetic Diversity discusses the potential uses of such collection, such as providing insight into human evolution and origins and serving as a springboard for important medical research. It also addresses issues of confidentiality and individual privacy for participants in genetic diversity research studies.

"A subject collection from Cold Spring Harbor perspectives in medicine."

Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.

The new field of toxicogenomics presents a potentially powerful set of tools to better understand the health effects of exposures to toxicants in the environment. At the request of the National Institute of Environmental Health Sciences, the National Research Council assembled a committee to identify the benefits of toxicogenomics, the challenges to achieving them, and potential approaches to overcoming such challenges. The report concludes that realizing the potential of toxicogenomics to improve public health decisions will require a concerted effort to generate data, make use of existing data, and study data in new waysâ€"an effort requiring funding, interagency coordination, and data management strategies.

The integration of biology, genomics, and health has opened the possibility of applying genomics technology to nutrition. In 2001, scientists associated with the Human Genome Project announced the successful mapping of the reference sequence of the human genome. Since then, a body of information has emerged. Genomics and related areas of research have contributed greatly to efforts to understand the cellular and molecular mechanisms underlying diet-disease relationships. Integration and application of genetic and genomics technology into nutrition research is, therefore, needed to develop nutrition research programs that are aimed at the prevention and control of chronic disease through genomics-based nutritional interventions. Of interest is the integration of relevant computational methods into nutritional genomics research; the enhancement of tools applicable to systems biology; and the effective dissemination of genomics-derived information to scientists, policy makers, and the interested public. To address these issues, a workshop was held on June 1 and 2, 2006. The workshop included presentations that were structured around three focus sessions: human genetic variation, epigenetics, and systems biology. A fourth session presented discussions on the implications of nutrigenomics for the future of nutrition science research. Numerous themes emerged from the workshop presentations. First, nutrigenomics is a complex field because it addresses issues related to multigenetic traits that can be modified by a number of nutritional and other environmental factors. Such complexity presents a challenge to the field; and the ensuing research opportunities will require cooperative work among scientific disciplines and across government, academic, and industrial centers, as well as adequate funding, to be realized. Additionally, the ability to stretch the limits of conventional research methodologies afforded by new genetic and genomic applications at the level of the individual opens the door to a wealth of potential benefits to areas such as disease prevention and wellness, bearing in mind the necessity of ethical safeguards. This potential, however, must be wisely exploited to avoid the pitfalls of overpromising research results and prematurely setting unrealistic expectations for beneficial outcomes. Finally, careful and rigorous research must be employed to optimize outcomes and assure acceptance by the scientific community. In summary, nutrition science is uniquely poised to serve as the crossroads for many disciplines and, using genomics tools, can bring this knowledge together to better understand and address diet-related chronic diseases and molecular responses to dietary factors.

The mapping of human genes is proceeding rapidly. Genes associated with specific inherited diseases are being identified, often providing insight into the molecular cause of the disease. At the moment, however, little consideration is being given to the variation present in different human populations. Variation in the Human Genome discusses methods of analysing population genetic data and how contemporary genetic heterogeneity arises during the evolution and migration of human populations. Specific disorders such as cystic fibrosis, beta-thalassaemia, fragile X, phenylketonuria and tumour development susceptibility are used to illustrate this genetic variability and mechanisms of gene mutation and evolution.