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Degenerative Retinopathies
This book represents the proceedings of the Sixth World Congress of the International Retinitis Pigmentosa Association (IRPA), Dublin, Ireland, July 20-22, 1990. It is intended for all research workers and ophthalmologists interested in the etiologies and diagnosis of inherited degenerative retinopathies. The book contains 22 original papers, many of which are genetically oriented. The genetic focus is due to the fact that highly significant progress in genetic research has been made over the last few years. Topics addressed in the book include proteins of the visual transduction cycle and their effect in the etiologies of RP, identification of more mutations, and new technologies for genetic analysis. The new technologies, in particular, will interest specialists in molecular genetics and researchers seeking information about more clinical applications and the implications of research of inherited retinopathies.
Metabolomics in Neurodegenerative Disease
The range of human neurodegenerative diseases continues to pose significant unmet medical needs for societies around the world. The progressive and terminal nature of these conditions places a considerable personal burden on the individual affected but also on public health systems and health services. Tens of millions of people are indiscriminately affected by various dementias, which are rising at an alarming rate. There are no cures for many conditions, and it is clear that treatments applied as early as possible could greatly improve outcomes for patients. Therefore, new disease classification and diagnostic tools should be a key priority. Metabolomics represents a relatively new field o...
Retinal Degenerative Diseases
Retinal Degenerations is the result of the International Symposium on Retinal degeneration which has become perhaps the most important research meeting in the field. THe topics in this volume explore the etiology, cellular mechanisms, epidemiology, genetics, models and potential therapeutic measures for the blinding diseases of retinitis pigmentosa and age-related macular degeneration.
Retinal Degeneration
During the last few years, an explosion of infonnation has come from human genetics and molecular and cell biological studies as to the genetic basis for a number of fonns of inherited retinal degenerations. These disorders have plagued mankind for millennia because they take from otherwise healthy individuals the precious gift of sight. The fundamental advances in recent years have identified a number of genes involved in the groups of diseases which hopefully will lead to discoveries that may, in the not too distant future, allow the prevention and possible cure of some of these blinding eye disorders. To foster a forum for discussions of studies on degenerative retinal disorders, we conve...
Retinal Dystrophies
Retinal dystrophies are the major causes of incurable blindness in the Western world. Our insight into their aetiology has improved remarkably over the past decade and a number of key genes have been identified. Together with a more detailed understanding of disease processes, this knowledge is stimulating new approaches to therapeutic strategies involving gene therapy, growth factors and retinal cell transplantation. Molecular genetic studies have provided detailed information on the pathogenesis of retinal dystrophies. An important proof of principle that gene therapy holds great promise for the treatment of these conditions was demonstrated in the rds mouse: introduction of a functional c...
Degenerative Diseases of the Retina
In 1984, we organized a two-day symposium on retinal degenerations as part of the biennial meeting of the VI International Society for Eye Research, held in Alicante, Spain. The success of this first meeting led to the second held, two years later in Sendai, Japan, organized as a satellite of the VII ISER. We were fortunate that these meetings began at a time of vigorous research activity in the area of retinal degenerations, thanks to the financial support of the Retinitis Pigmentosa Foundation and the strong encouragement of its scientific director, Dr. Alan Laties. Significant advances were made so that every two years scientists were eager to meet to share their findings. The programs in...
Advances in Vision Research, Volume II
This second volume continues with a focus on the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disea...
Molecular Biology and Physiology of Water and Solute Transport
Biophysical studies in the 1950ies and 1960ies led to the realization that the water permeability of certain biological membranes must be due to the presence of water transporting proteins. This hypothesis was confirmed in 1991 and 1992 with the pioneering discovery of the first molecular membrane water channel, CHIP28, by Agre and coworkers. This integral membrane protein, which is abundant in the erythrocyte membrane and in many epithelial cells, is now called aquaporin-1 or AQP1. Thus the terms water channel or aquaporin are synonymous. In July 2000 more than 200 researchers came together in Gothenburg, Sweden, for the `3rd International Conference on the Molecular Biology and Physiology of Water and Solute Transport" to discuss progress in this emerging research field. 58 different presentations from this conference are the basis for this book. Cumulatively, these 58 short chapters provide a balanced overview complementing numerous recent reviews in this field.
New Insights Into Retinal Degenerative Diseases
Since 1984, we have organized satellite symposia on retinal degenerations that are held in conjunction with the biennial International Congress of Eye Research. The timing and location of our Retinal Degeneration Symposia have allowed scientists and clinicians from around the world to convene and present their exciting new findings. The symposia have been arranged to allow ample time for discussions and one-on-one interactions in a relaxed atmosphere, where international friendships and collaborations could be established. The IXth International Symposium on Retinal Degeneration was held on October 9-14, 2000 in Durango, Colorado and was attended by over 100 scientists from six continents. T...
