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视网膜退行性疾病的发病机制及实验治疗-Retinal Degenerative Diseases: Mechanisms and Experimental Therapy

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标题(title):Retinal Degenerative Diseases: Mechanisms and Experimental Therapy
视网膜退行性疾病的发病机制及实验治疗
作者(author):Catherine Bowes Rickman, Christian Grimm, Robert E. Anderson, John D. Ash, Matthew M. LaVail, Joe G. Hollyfield
出版社(publisher):Springer International Publishing
大小(size):22 MB (23326598 bytes)
格式(extension):pdf
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This book contains the proceedings of the XVIII International Symposium on Retinal Degeneration (RD2018). A majority of those who spoke and presented posters at the meeting contributed to this volume. The blinding diseases of inherited retinal degenerations have no treatments, and age-related macular degeneration has no cures, despite the fact that it is an epidemic among the elderly, with 1 in 3-4 affected by the age of 70. The RD Symposium focused on the exciting new developments aimed at understanding these diseases and providing therapies for them. Since most major scientists in the field of retinal degenerations attend the biennial RD Symposia, they are known by most as the “best” and “most important” meetings in the field.

The volume presents representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy.

While advances in these areas of retinal degenerations were described, there will be many new topics that either are in their infancy or did not exist at the time of the last RD Symposium, RD2016. These include the role of inflammation and immunity, as well as other basic mechanisms, in age-related macular degeneration, several new aspects of gene therapy, and revolutionary new imaging and functional testing that will have a huge impact on the diagnosis and following the course of retinal degenerations, as well as to provide new quantitative endpoints for clinical trials.

The retina is an approachable part of the central nervous system (CNS), and there is a major interest in neuroprotective and gene therapy for CNS diseases and neurodegenerations, in general. It should be noted that with successful and exciting initial clinical trials in neuroprotective and gene therapy, including the restoration of sight in blind children, the retinal degeneration therapies are leading the way towards new therapeutic measures for neurodegenerations of the CNS. Many of the successes recently reported in these areas of retinal degeneration sprang from collaborations established at previous RD Symposia, and many of those were reported at the RD2016 meeting and included in the current volume. We anticipate the excitement of those working in the field and those afflicted with retinal degenerations is reflected in the volume.






Table of contents :
Front Matter ....Pages i-xvi
Front Matter ....Pages 1-1
AMD-Associated HTRA1 Variants Do Not Influence TGF-β Signaling in Microglia (Isha Akhtar-Schaefer, Raphael Reuten, Manuel Koch, Markus Pietsch, Thomas Langmann)....Pages 3-7
A Review of Pathogenic Drivers of Age-Related Macular Degeneration, Beyond Complement, with a Focus on Potential Endpoints for Testing Therapeutic Interventions in Preclinical Studies (Mayur Choudhary, Goldis Malek)....Pages 9-13
GPR143 Signaling and Retinal Degeneration (Anna G. Figueroa, Brian S. McKay)....Pages 15-19
Isolation of Retinal Exosome Biomarkers from Blood by Targeted Immunocapture (Mikael Klingeborn, Nikolai P. Skiba, W. Daniel Stamer, Catherine Bowes Rickman)....Pages 21-25
Systemic Inflammatory Disease and AMD Comorbidity (Gloriane Schnabolk)....Pages 27-31
Adaptive and Maladaptive Complement Activation in the Retina (Sean M. Silverman, Wai T. Wong)....Pages 33-37
Long-Chain Polyunsaturated Fatty Acids and Age-Related Macular Degeneration (Dorota Skowronska-Krawczyk, Daniel L. Chao)....Pages 39-43
Melatonin as the Possible Link Between Age-Related Retinal Regeneration and the Disrupted Circadian Rhythm in Elderly (Nadezda A. Stepicheva, Joseph Weiss, Peng Shang, Meysam Yazdankhah, Sayan Ghosh, Imran A. Bhutto et al.)....Pages 45-49
Active Cholesterol Efflux in the Retina and Retinal Pigment Epithelium (Federica Storti, Christian Grimm)....Pages 51-55
Systematic Injection of Low-Dose LPS Transiently Improves the Retina Function and Structure of a Mouse Model of Geographic Atrophy (Brianna M. Young, Cristhian J. Ildefonso)....Pages 57-62
Front Matter ....Pages 63-63
Small Molecule-Based Inducible Gene Therapies for Retinal Degeneration (Shyamtanu Datta, Hui Peng, John D. Hulleman)....Pages 65-69
RNA-Based Therapeutic Strategies for Inherited Retinal Dystrophies (Alejandro Garanto)....Pages 71-77
A Comparison of Inducible Gene Expression Platforms: Implications for Recombinant Adeno-Associated Virus (rAAV) Vector-Mediated Ocular Gene Therapy (Daniel M. Lipinski)....Pages 79-83
Emerging Concepts for RNA Therapeutics for Inherited Retinal Disease (Spencer M. Moore, Dorota Skowronska-Krawczyk, Daniel L. Chao)....Pages 85-89
In Vivo Assessment of Potential Therapeutic Approaches for USH2A-Associated Diseases (Nachiket D. Pendse, Veronica Lamas, Basil S. Pawlyk, Morgan L. Maeder, Zheng-Yi Chen, Eric A. Pierce et al.)....Pages 91-96
Gene and Cell Therapy for AIPL1-Associated Leber Congenital Amaurosis: Challenges and Prospects (Pedro R. L. Perdigao, Jacqueline van der Spuy)....Pages 97-101
Advancing Gene Therapy for PDE6A Retinitis Pigmentosa (Simon M. Petersen-Jones, Laurence M. Occelli, Martin Biel, Stylianos Michalakis)....Pages 103-107
Systemic Delivery of Genes to Retina Using Adeno-Associated Viruses (Chiab P. Simpson, Susan N. Bolch, Ping Zhu, Frances Weidert, Astra Dinculescu, Ekaterina S. Lobanova)....Pages 109-112
Progress in Gene Therapy for Rhodopsin Autosomal Dominant Retinitis Pigmentosa (Raghavi Sudharsan, William A. Beltran)....Pages 113-118
A Discovery with Potential to Revitalize Hammerhead Ribozyme Therapeutics for Treatment of Inherited Retinal Degenerations (Alexandria J. Trujillo, Jason M. Myers, Zahra S. Fayazi, Mark C. Butler, Jack M. Sullivan)....Pages 119-124
Temporal Distribution Patterns of Alexa Fluor 647-Conjugated CeNPs in the Mouse Retina After a Single Intravitreal Injection (Lily L. Wong, Swetha Barkam, Sudipta Seal, James F. McGinnis)....Pages 125-130
Front Matter ....Pages 131-131
Dysflective Cones (Jacque L. Duncan, Austin Roorda)....Pages 133-137
Multimodal Imaging in Choroideremia (Katharina G. Foote, Austin Roorda, Jacque L. Duncan)....Pages 139-143
Functional Assessment of Vision Restoration (Juliette E. McGregor, David R. Williams, William H. Merigan)....Pages 145-149
Noninvasive Diagnosis of Regional Alteration of Retinal Morphology and Structure with Optical Coherence Tomography in Rodents (Fangfang Qiu, Meili Zhu, Yun-Zheng Le)....Pages 151-155
Front Matter ....Pages 157-157
Microglial Cell Dysfunction in CRB1-Associated Retinopathies (C. Henrique Alves, Jan Wijnholds)....Pages 159-163
Innate Immune Response Following AAV Administration (D. L. Dauletbekov, J. K. Pfromm, A. K. Fritz, M. D. Fischer)....Pages 165-168
The Role of Caveolin-1 in Retinal Inflammation (Jami M. Gurley, Michael H. Elliott)....Pages 169-173
Increased Protein Citrullination as a Trigger for Resident Immune System Activation, Intraretinal Inflammation, and Promotion of Anti-retinal Autoimmunity: Intersecting Paths in Retinal Degenerations of Potential Therapeutic Relevance (Alessandro Iannaccone, Marko Z. Radic)....Pages 175-179
Identification of a Unique Subretinal Microglia Type in Retinal Degeneration Using Single Cell RNA-Seq (Chen Yu, Daniel R. Saban)....Pages 181-186
Front Matter ....Pages 187-187
Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing (Iris Barny, Isabelle Perrault, Marlène Rio, Hélène Dollfus, Sabine Defoort-Dhellemmes, Josseline Kaplan et al.)....Pages 189-195
Detection of Large Structural Variants Causing Inherited Retinal Diseases (Stephen P. Daiger, Lori S. Sullivan, Sara J. Bowne, Elizabeth D. Cadena, Dan Koboldt, Kinga M. Bujakowska et al.)....Pages 197-202
A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa (Adrian Dockery, Matthew Carrigan, Niamh Wynne, Kirk Stephenson, David Keegan, Paul F. Kenna et al.)....Pages 203-207
Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration (Abigail T. Fahim, Debra A. Thompson)....Pages 209-213
Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies (Roser Gonzàlez-Duarte, Marta de Castro-Miró, Miquel Tuson, Valeria Ramírez-Castañeda, Rebeca Valero Gils, Gemma Marfany)....Pages 215-219
Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia (Imen Habibi, Mohamed Youssef, Eman Marzouk, Nihal El Shakankiri, Ghada Gawdat, Mohamed El Sada et al.)....Pages 221-226
Retinal Pigment Epithelial Cells: The Unveiled Component in the Etiology of Prpf Splicing Factor-Associated Retinitis Pigmentosa (Abdallah Hamieh, Emeline F. Nandrot)....Pages 227-231
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss (Sabrina Mechaussier, Sandrine Marlin, Josseline Kaplan, Jean-Michel Rozet, Isabelle Perrault)....Pages 233-238
Naturally Occurring Inherited Forms of Retinal Degeneration in Vertebrate Animal Species: A Comparative and Evolutionary Perspective (Freya M. Mowat)....Pages 239-243
RD Genes Associated with High Photoreceptor cGMP-Levels (Mini-Review) (François Paquet-Durand, Valeria Marigo, Per Ekström)....Pages 245-249
The Enigma of CRB1 and CRB1 Retinopathies (Thomas A. Ray, Kelly J. Cochran, Jeremy N. Kay)....Pages 251-255
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