Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Chromosome abnormalities, collected works. --- Genetics --- Hereditary diseases, collected works. --- Medical genetics. --- Biochemical, collected works. --- Medical, collected works. --- Atlases. --- CHROMOSOME ABNORMALITIES, collected works --- GENETICS --- HEREDITARY DISEASES, collected works --- BIOCHEMICAL, collected works --- MEDICAL, collected works --- CHROMOSOME ABNORMALITIES, collected works. --- HEREDITARY DISEASES, collected works. --- BIOCHEMICAL, collected works. --- MEDICAL, collected works. --- Human genetics --- Monograph

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

"The sequencing of the human genome and the identification of associations between specific genetic variants and diseases have led to an explosion of genomic-based diagnostic tests. These tests have the potential to direct therapeutic interventions, predict risk or onset of disease, or detect residual disease. As research progresses and an increasing number of associations are found, further tests will be developed that can aid in providing personalized treatment options for patients. However, the adoption of genomic diagnostic tests by health care providers has been limited due to a lack of evidence regarding the clinical utility of many tests. Health funders and practitioners lack the data necessary to distinguish which tests can improve practice or the clinical settings in which tests will provide the greatest value. The Roundtable on Translating Genomic-Based Research for Health held a workshop in November 2010 to determine what evidence is needed and how it is viewed by different stakeholders in order to develop genomic diagnostic tests of clinical value. Genome-Based Diagnostics summarizes the presentations and discussions that took place throughout the workshop. Two presentations, in particular, sparked extensive discussion. One presentation proposed that all genomic diagnostic tests be reviewed and approved by the Food and Drug Administration. The other observed that venture capitalists are no longer investing substantially in the development of genomic diagnostic tests because of a lack of clarity surrounding regulatory and reimbursement pathways. Both presentations suggested the need for major changes in the systems used to develop, regulate, and reimburse genomic diagnostic tests. The report also presents the perspectives of different stakeholders in the development of genomic diagnostic tests. Each stakeholder group has a different set of needs and issues of importance, yet commonalities among them are apparent, such as the need to put patients and health outcomes at the center of discussion and action"--Publisher's description.

Congenital diseases --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Human chromosome abnormalities --- Genetic disorders --- Disorders, Genetic --- Diseases --- Medical genetics --- Human chromosomes --- Chromosome abnormalities --- Diagnosis --- Abnormalities

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Contributions to this study are drawn both from health professionals engaged in genetic counselling and from observers and critics with backgrounds in law, philosophy, biology, and the social sciences. This diversity will enable health professonials to examine their activities with a fresh eye, and will help the observer-critic to understand the ethical problems that arise in genetic counselling practice, rather than in imaginary encounters. Most examinations of the ethical issues raised by genetics are concerned in a broad sense with the application of new technology to human reproduction.

Genetic counseling --- Health counseling --- Moral and ethical aspects. --- #GBIB:CBMER --- Moral and ethical aspects --- Abnormalities. --- Ethics, Medical. --- Genetic Counseling. --- Genetic Screening. --- Hereditary Diseases. --- Sociology, Medical.

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

When a child is born without a complete iris, it is usually a symptom of a broader condition. Known as aniridia, this condition can also be a sign other parts of the eye are underdeveloped as well. Moreover, recent research shows that the gene involved can also affect the kidneys, pancreas and forebrain, so aniridia can coincide with a range of symptoms known as WAGR syndrome. Until recently, however, there was very little information available on aniridia and WAGR Syndrome. Even now, not all of the available information is current or correct, so that when a child is diagnosed with aniridia, the parents often find or are given information that is confusing and even frightening. Our hope is to enlighten and encourage those affected by aniridia and WAGR Syndrome by providing patient support and medical information.

Iris (Eye) --- Genetic disorders --- Syndromes --- Diseases --- Pathology --- Symptoms --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Medical genetics --- Uvea

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Progress in molecular and cellular biology has greatly enhanced our ability to accurately diagnose diseases that are caused by gene mutations, changes in genome structures, and altered gene expression; increased emphasis is now placed on translational research and the clinical treatment of these genetically determined diseases. Seeking Cures outlines the progress and implications of science's quest to identify therapeutic targets and initiate novel treatments at the gene, RNA, protein, and physiological levels. Also considered are aspects of treatment at the cellular level (e.g., those with he

Genetic disorders. --- Gene therapy. --- Therapy, Gene --- Genetic engineering --- Therapeutics --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics