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6th Edition of Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease
The 6th Edition of Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease, Volumes 1 and 2 comprise in 1,800 pages a thorough and comprehensive text describing the neuroscientific basis and clinical features of neurological and psychiatric disorders written by international scholars and authorities in each field. The text first appeared in 1992 with Roger N. Rosenberg, MD as the Founding and Principal Editor and now has been joined by Juan M. Pascual, MD, PhD as Co-Editor for the 5th and 6th Editions.
This edition has been fully revised and expanded to include new chapters on Precision Medicine in Neurology, Genomics of Human Neurological Disorders, Epigenomics of Neurological Disease, Immunogenetics of neurological disease, CRISPR-Cas immune systems and genome engineering, Adeno-associated virus-mediated gene therapy in central nervous system genetic disorders, Application of mouse genetics to human disease generation and analysis of mouse models, Antisense oligonucleotide drugs for neurological and neuromuscular disease, Genotype-phenotype considerations in neurogenetic disease, Neurological evaluation and management of autism spectrum disorders, Pyruvate dehydrogenase, pyruvate carboxylase, Krebs cycle, and mitochondrial transport disorders, Pantothenate kinase-associated neurodegeneration, Aceruloplasminemia, Cerebrotendinous xanthomatosis, Glucose transporter type 1 deficiency and other glucose flux disorders, Genomics of Alzheimer’s Disease, The neuronal ceroid-lipofuscinoses, Epilepsy genetics-considerations for clinical practice today and for the future, Pain Genetics, Dystrophinopathies, The Congenital myopathies, Hereditary inclusion-body myopathies, Fascioscapulohumeral muscular dystrophy, Coagulopathies, and Sickle Cell Disease. Clearly, neurogenetics and nutrigenomics have advanced rapidly and are now poised to develop in the next decade effective targeted neurotherapeutics. All of the previous chapters in the last edition have been extensively revised and updated.
The 200 years since Darwin’s birth, 150 years since the publication of Origin of Species, and the 27 years of the publication of the six editions of this book, is a brief time in human experience. The 6th edition builds on the development of neurogenetics, genomics/neuromics, and epigenomics during the past thirty years and documents the advances in whole and exomic genome sequencing, copy number variation, epistasis, epigenetics, single nucleotide variations, deletion or duplication variants, insertion/deletion variants, translocations and inversions, chromatin structural defects, the transcriptome, the methylome, the acetylome, the metabolome, RNA regulation of gene expression and stem cell applications to decipher how mutations in these genetic functions are causal of neurological and psychiatric diseases.
Chapter 2, Volume 1, by C. Thomas Caskey, et al. “Precision Medicine in Neurology” discusses in considerable detail the advancements in Precision Medicine and the findings that currently are implemented in the field of neurology. Read this complimentary chapter now.
Chapter 5, Volume 1, Immunogenetics of neurological disease by Philip L. De Jager, reviews the state of immunogenetics and use certain neurologic diseases to illustrate how that understanding has contributed to changing our perspective of their pathophysiology.
Chapter 10, Volume 1, Adeno-associated virus-mediated gene therapy in central nervous system genetic disorders by Widler Casy, et al addresses advancements and challenges in adeno-associated virus -mediated gene therapy.
Chapter 12, Volume 1, CRISPR-Cas immune systems and genome engineering by Sanne E. Klompe and Samuel H. Sternberg describes the incredibly exciting research utilizing this system to treat and potentially cure major genetic disorders of the nervous system. It summarizes the development and future neuroscientific applications of CRISPR-Cas, as developed initially by Jennifer Doudna, PhD and Emmanuelle Charpentier, recipients of the 2020 Nobel Prize in Chemistry.
Chapter 11, Volume 1, Genomics of human neurological disorders by Robert Nussbaum, provides a detailed analysis of new data of gene mutations causal of human neurological/psychiatric diseases developed with specific sequence data of the whole human genome.
Chapter 17, Volume 1, Antisense oligonucleotide drugs for neurological and neuromuscular disease by Roger M. Lane and Frank Bennett discuss the impressive progress to use ASO drugs to treat patients with spinal muscular atrophy, Huntington disease, Duchenne muscular dystrophy and the plans to expand this technology to many other disorders in the near future.
Chapter 1, Volume 2 “Genomics of Alzheimer’s Disease” by Roger N. Rosenberg et al describes the genotype-phenotype relationships with autosomal dominant mutations in the amyloid precursor protein gene, and presenilin 1 and 2 genes, autosomal recessive mutations and multiple polymorphisms increasing the risk for Alzheimer’s disease. Development of a DNA Abeta42 trimer vaccine to prevent Alzheimer’s disease from his laboratory is highlighted. Read this complimentary chapter now.
Chapter 17 Volume 2 Epilepsy by Alica M. Goldman and Jeffrey L. Noebels focus on epilepsy disorders resulting from a presumed or known molecular defect in which seizures are an early core symptom, that is the genetic epilepsies.
Chapter 20 Volume 2 Amyotrophic lateral sclerosis by Jemeen Sreedharan et al discuss a set of genes that may robustly be considered ALS genes, as they provide molecular insights into ALS biology and causality of clinical ALS.
The Prologue to the 6th Edition was written by Nobel Laureate Thomas C. Sudhof, MD, Stanford University, who said: “This book presents, in a herculean effort, an attempt to communicate our current understanding o the molecular and genetic basis of brain disorders. In 112 chapters, written by experts in the field, the book provides an overview of this very important area of neuroscience. It is a much needed effort because neuroscience has become balkanized, divided into fiefdoms that are often separated by cognitive walls. By compiling chapters illustrating different approaches and subjects, the current book enables neuroscientists to achieve a more integrative view of translational biology and facilitates further studies on that most magical of all organs, that is, the brain.”
The Foreword to the 6th Edition was written by Nobel Laureate Bruce Beutler, MD, University of Texas Southwestern Medical Center at Dallas. He was formerly a Neurology Resident in the Department of Neurology with Dr. Rosenberg when he served as Chair of the Department. Dr. Beutler wrote, “Anyone who has absorbed the chapters of this book will understand that it is not enough to create or discover an interesting phenotype and know its genetic cause. A long road lies beyond that achievement. One must grasp the mechanism by which the mutation causes the phenotype, and often this requires a great effort. A “combined arms” doctrine may be used, in the hope the best tools of structural biology, biochemistry, and cell biology will yield mechanism”.
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Editors of the 6th Edition:
Roger N. Rosenberg, MD is a graduate of Northwestern University Medical School, with Distinction, and was subsequently trained in Neurology with H. Houston Merritt, MD at the Neurological Institute, Columbia University, New York, was Chief Resident and then was a Post-Doctoral Fellow with Nobel Laureate Marshall Nirenberg at the NIH in the Laboratory of Biochemical Genetics. He is Board Certified by the American Board of Psychiatry and Neurology. He is holder of the (Abe) Brunky, Morris and William Zale Distinguished Chair and Professor of Neurology and Neurotherapeutics at the University of Texas Southwestern Medical Center at Dallas since 1973 and developed the department for 18 years as Chair from 1973-1991.
He described for the first time in 1975 Machado Joseph disease, an autosomal dominant cerebellar degeneration, which produces imbalance and impaired coordination, and showed it was due to a unique expansion of DNA in the causal gene. It is the most common inherited form of impaired coordination in the world and his research has provided a genetic marker to eliminate it in large families in future generations.
He has served as the Founding Director of the UT Southwestern NIH funded Alzheimer’s Disease Center and Principal Investigator of the NIH Center Grant from 1987-2020.
Dr. Rosenberg directs an active laboratory effort in Alzheimer’s Disease. He is developing a DNA Aβ42 trimer vaccine for Alzheimer’s disease for which he was awarded a US Patent “Amyloid Beta Gene Vaccines” in January 2009. It has been tested in mouse, transgenic mouse, New Zealand white rabbits and rhesus monkeys. The vaccine produces effective anti-Aβ42 peptide antibody levels and is non-inflammatory in all three species. The vaccine reduces by 40% Aβ42 peptide and by 50% tau and phospho-tau in the brains of 3X AD Tg mice, the two main pathologies of Alzheimer’s disease, with high levels of anti-Aβ42 antibody and with a non-inflammatory immune response. He is preparing now a Phase 1 Clinical trial Grant – First in Human to determine its effectiveness and safety in human subjects.
He has published 297 original scientific articles, chapters, reviews, and editorials. Dr. Rosenberg served as Editor in Chief from 1997 through 2017 for JAMA Neurology (formerly Archives of Neurology), a major international neurology journal, published by the American Medical Association. During his tenure, he raised the Impact Factor of the journal from 3.0 to 10.2, placing JAMA Neurology as #1 of all US publications in neurology.
He is the founding editor of two of the landmark texts in neuroscience. Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease. The 6th edition was published in 2020. The Atlas of Clinical Neurology, 4th edition, has also been published in 2020.
He is a former President of the American Academy of Neurology, former Vice-President of the American Neurological Association, an Honorary Member of both organizations, and a Fellow of the American Association for the Advancement of Science. He received the first Science Medal in 2009 from the World Federation of Neurology for his contributions to neuro-genetics, for his original clinical and molecular genetics research on Machado-Joseph disease, and the development of the DNA Abeta42 trimer vaccine for Alzheimer’s disease.
Juan M. Pascual, M.D., Ph.D., is the inaugural holder of The Once Upon a Time Foundation Professorship in Pediatric Neurologic Diseases and also holds the Ed and Sue Rose Distinguished Professorship in Neurology.
His laboratory research interests span virtually the entire field of neuroscience, including medical neuroscience, from molecular structure and function (including drug action), neural physiology and metabolism at the cellular, circuit and whole-brain level and neurogenetics, all of which is complemented with neurological patient care and clinical trials. Laboratory research greatly influences his clinical activities and patient observations guide his laboratory research direction.
As a clinician, Dr. Pascual specializes in genetic and metabolic diseases of the nervous and neuromuscular systems of infants, children, and adults with a particular emphasis on complex diagnostic problems, second opinions for patients visiting from the rest of the U.S. and abroad, and in clinical trials. Dr. Pascual has special clinical research expertise in undiagnosed and rare diseases, glucose metabolism, mitochondrial, degenerative, and multi-organ disorders.
Dr. Pascual is a tenured faculty member in four Departments at UT Southwestern Medical Center: Neurology and Neurotherapeutics, Physiology, Pediatrics, and the Eugene McDermott Center for Human Growth & Development / Center for Human Genetics. He is also Director of the Rare Brain Disorders Program (Clinic and Laboratory). He is also a member of the Division of Pediatric Neurology, of the graduate Ph.D. programs in Neuroscience and Integrative Biology, and of the postgraduate clinical training programs in Neurology, Pediatric Neurology, Pediatrics, and Medical Genetics. He teaches at UT Southwestern Medical School.
In addition, Dr. Pascual is an adjunct professor in the Department of Biological Sciences at the School of Natural Sciences and Mathematics, The University of Texas at Dallas.
Dr. Pascual directs a highly collaborative research laboratory and is credentialed campus-wide at Children’s Medical Center Dallas, UT Southwestern University Hospitals and Clinics, and Parkland Memorial Hospital, where he consults on inpatients and outpatients with particularly complex or severe diseases. Much of his research is funded by the National Institutes of Health.
Dr. Pascual received his M.D. degree with unique distinction from the Universidad de Granada, Spain, one of the oldest universities in the world, founded in 1349 by Yusuf I, Sultan of Granada and one of the builders of the Alhambra. He received his Ph.D. degree in Molecular Physiology and Biophysics from Baylor College of Medicine in Houston, Texas, under Arthur M. Brown, M.D., Ph.D., McCollum Professor and Chair. His postdoctoral research was conducted under Arthur Karlin, Ph.D., Higgins Professor and Director of the Center for Molecular Recognition, College of Physicians and Surgeons of Columbia University and, later, at the Colleen Giblin Research Laboratories for Pediatric Neurology at the same institution under a Neurological Sciences Academic Development Award from the National Institute of Neurological Disorders and Stroke. He also received residency training in Pediatrics at Washington University School of Medicine – St. Louis Children’s Hospital and in Neurology and Pediatric Neurology at the Neurological Institute of New York – Columbia University Medical Center. He received certification in Neurology with Special Qualification in Child Neurology from the American Board of Psychiatry and Neurology.
As one of few actively practicing pediatric neurologists in the nation who is also a laboratory scientist, Dr. Pascual is interested in the molecular mechanisms that cause inherited metabolic and excitability disorders using electrophysiology and nuclear magnetic resonance (MRI) both in human subjects and in models of human diseases. His laboratory is located in the newest biomedical research building (NL) at UT Southwestern and is an integral part of the Department of Neurology and Neurotherapeutics. The laboratory is home to scientists from very broad backgrounds and levels of training and expertise who have joined efforts to endow both pediatric neurology and human developmental neuroscience with a strong scientific basis.
Dr. Pascual has co-authored over two dozen scientific, medical and philosophical textbooks. He is the editor, together with Dr. Roger Rosenberg, of Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease (5th and 6th editions, Academic Press). His textbook Progressive Brain Disorders in Childhood (Cambridge University Press) was published in 2017. He is working on a new book, provisionally entitled Sense & Nonsense in Medical Neuroscience: Inference & Fallacy, to be published by Cambridge University Press.
An avid reader and speaker, Dr. Pascual is also interested in the philosophy of mind. He is particularly concerned with the proper study of the human condition. Thus, he is a critic of errors commonly made by cognitive neuroscientists. As a research and clinical neurogeneticist, he has also grown disillusioned with the current simplistic overreliance on genes as an explanation of biology or disease.
Dr. Pascual has no interest in – nor is he sponsored by – any business that conducts medical research or lobbies for financial gain.
The scientific study of the nervous system is entering a new golden age. Researchers and clinicians continue to advance the treatment of conditions such as Alzheimer’s syndrome, Parkinson’s disease, epilepsy, and traumatic brain injury. Public initiatives like the federal Brain Research Through Advancing Innovative Neurotechnologies (BRAIN) program in the United States, announced in April 2013, ensure that funding and resources will continue to be applied to this rapidly growing field. Elsevier’s journals, books, eBooks, online references, and tools are respected around the world for everything from physiology and pathology to behavioral genetics and nerve repair. Our publications are a gateway to the latest advancements in neuroscience research and leading-edge data for professionals, students, and academics alike.