
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition
Volume 1
- 7th Edition, Volume 1 - September 27, 2024
- Editors: Roger N. Rosenberg, Juan M. Pascual
- Language: English
- Hardback ISBN:9 7 8 - 0 - 4 4 3 - 1 9 0 4 1 - 4
- eBook ISBN:9 7 8 - 0 - 4 4 3 - 1 9 0 4 2 - 1
Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Seventh Edition, provides a comprehensive introduction and reference to the foundations and key pr… Read more

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Request a sales quoteRosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Seventh Edition, provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to neurologic and psychiatric disease. This volume has been thoroughly revised and includes newly commissioned chapters on ethics, genetic counselling and genet therapy for the central nervous system disorders. A favorite of over four generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the previous edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community at large.
- Both volumes combined provide a comprehensive coverage on the neurogenetic foundation of neurological and psychiatric disease
- This volume provides a detailed introduction on both the clinical and basic research implications of molecular and genetics surrounding the brain
- Includes new chapters on genomics of human neurological disorders, CRISPR and genome engineering
Practitioners including neurologists, psychiatrists and genetic counselors, trainee physicians and laboratory researchers interested in neurogenetics and molecular neuroscience
- Title of Book
- Cover image
- Title page
- Table of Contents
- Copyright
- The editors
- Dedication
- List of Contributors
- About the editors
- Foreword for the sixth edition
- Prologue for the sixth edition
- Introduction to the seventh edition
- Section I: General concepts and tools
- Chapter 1. Mendelian, non-Mendelian, multigenic inheritance, and epigenetics
- Abstract
- Introduction
- Mendelian traits
- Repeat expansion disorders
- Non-Mendelian inheritance
- Chromosomal and genomic disorders
- Multigenic inheritance
- Complex traits
- Epigenetics
- Assessing variation in the human genome
- Next-generation sequencing
- Conclusion
- References
- Chapter 2. Precision medicine in neurology
- Abstract
- Introduction
- Technologies contributing to precision medicine
- Metabolomics
- Imaging
- Wearable devices
- Early precision medicine advancements
- Initiation of precision medicine programs in the United States
- Precision medicine results at individualized level (N-of-1)
- Pharmacogenomics
- Incorporation of precision diagnostics with targeted therapy
- Summary
- Acknowledgments
- References
- Chapter 3. Epigenomics of neurological disorders
- Abstract
- Introduction
- Types and mechanisms of epigenetic modifications
- Epigenetic therapeutic strategies in neurological disorders
- Conclusions
- References
- Chapter 4. What genes can and cannot do
- Abstract
- Conceptual confusions in neurology and genetics
- Genes are malleable
- Biological causation: from and to genes and on to more important levels
- What biological level(s) control the organism?
- The crooked paths between genes and phenotypes
- Abnormalities leading to normality
- The generation of novel biology
- Types of genes based on modifiability
- Are misconceptions harmless?
- Conclusion
- Acknowledgments
- References
- Chapter 5. Genotype–phenotype considerations in neurogenetic disease
- Abstract
- Introduction
- Genotype
- Phenotype
- Genotype–phenotype correlation: definition and clinical use
- Penetrance
- Expressivity
- Clinical heterogeneity
- Complex disease and polygenic risk
- Genotype–phenotype considerations for the neurogenetic evaluation
- Conclusions
- Funding
- Conflict of interest
- References
- Chapter 6. Immunogenetics of neurological disease
- Abstract
- Introduction
- Lessons from immunogenetics
- Immune cell states
- Major histocompatibility complex
- Neurodegeneration and the immune system
- Neurologic adverse events from immunotherapy: role of immunogenetics
- Immunosenescence
- Immunogenetics and the future of neurologic disease
- References
- Further reading
- Chapter 7. Pharmacogenomic approaches to the treatment of sporadic Alzheimer’s disease
- Abstract
- Genetic risk factors and sporadic Alzheimer’s disease
- Genetic risk factors, cholinergic dysfunction, and Alzheimer’s disease
- APOE4 and cholinomimetic drugs in Alzheimer’s disease
- Experimental drugs and their relationship to the APOE4 genotype
- Acetylcholinesterase and butyrylcholinesterase genetic variants in dementia
- Pharmacogenomics of adverse side effects
- Acknowledgments
- References
- Chapter 8. Application of mouse genetics to human disease: generation and analysis of mouse models
- Abstract
- Creating mouse models
- Phenotypic analysis of mouse models
- Summary
- References
- Chapter 9. DNA sequencing and other methods of exonic and genomic analyses
- Abstract
- DNA sequencing technologies
- Application of next-generation sequencing to elucidating Mendelian-trait diseases
- Search for de novo mutations based on whole-exome sequencing/whole-genome sequencing analyses of trios
- References
- Chapter 10. Association, cause, and causal association. Revision 2: playing the changes
- Abstract
- Considerations
- Learning from infectious disease
- Causal “guidelines” and observational versus experimental designs
- A path forward and artificial intelligence
- The progression of complexity into public health
- References
- Chapter 11. Adeno-associated virus-mediated gene therapy in central nervous system genetic disorders
- Abstract
- Introduction
- Part I: development of adeno-associated virus as a central nervous system gene transfer vector
- Part II: development of AAV-mediated gene therapy for CNS diseases
- Part III: clinical translation, milestones, and challenges
- Conclusion
- Acknowledgments
- References
- Chapter 12. Genomics of human neurological disorders
- Abstract
- “-Omics”
- Technology
- Human variation
- Clinical impact of human variation
- Comparative genomics
- Functional genomics
- Single cell transcriptomics
- Applying human genomics to understanding disorders of the nervous system
- References
- Chapter 13. CRISPR/Cas9-based genetic engineering for translational research in neurological disorders
- Abstract
- Introduction
- CRISPR and its working mechanisms
- DNA cleavage via conventional CRISPR/Cas9 in neurological disorders
- The expanding family of CRISPR effectors and toolkits for gene editing
- Challenges toward a fruitful translation of CRISPR technologies for clinical neurology
- Concluding remarks
- Acknowledgments
- References
- Chapter 14. Neural cells derived from pluripotent stem cells and directly induced from somatic cells
- Abstract
- Introduction
- Direct induction of neural stem cells from somatic cells
- Direct induction of neurons from somatic cells
- References
- Chapter 15. Neuroimaging in dementia
- Abstract
- Neuroimaging technologies
- Alzheimer’s disease
- Dementia with Lewy bodies
- Frontotemporal dementia
- Imaging vascular contributions to cognitive impairment and dementia
- Recent efforts in the field of dementia
- References
- Chapter 16. Neuroethics
- Abstract
- Animal ethics
- Research on human subjects
- Diagnosis-related issues
- Lifesaving and quality of life
- Treatment versus enhancement
- Neuroprivacy
- Moral status “in the dish”
- Brain death and disorders of consciousness
- Personal identity
- Neurodiversity
- Conclusion
- Chapter 17. Genetic counseling
- Abstract
- Introduction to genetic counseling
- Components of genetic counseling and case preparation
- Genetic testing
- Ethical issues
- Conclusion
- References
- Chapter 18. Antisense oligonucleotide drugs for neurological and neuromuscular diseases
- Abstract
- Introduction
- Opportunities for ASOs in neuroscience
- Mechanisms of action of ASOs
- Chemical modification of ASOs
- Potential adverse effects of ASOs
- Pharmacokinetics/delivery of ASOs
- Preclinical studies of ASOs in the central nervous system
- Clinical development of ASOs
- Conclusions
- Disclosure statement
- Acknowledgments
- References
- Chapter 19. Autophagy and neurological disorders
- Abstract
- Introduction to autophagy
- Autophagy and brain health
- Autophagy in neurodegenerative disorders
- Alzheimer’s disease
- Parkinson’s disease
- Huntington’s disease
- Amyotrophic lateral sclerosis
- Autophagy and prion disease
- Autophagy and stroke
- Autophagy and multiple sclerosis
- Conclusion: the potential of autophagy therapeutics in neurological disorders
- References
- Chapter 20. The aging brain
- Abstract
- Introduction
- Clinically defining and characterizing healthy brain aging
- Epidemiology of unhealthy brain aging
- Brain aging through the lens of the hallmarks of aging
- Brain aging interventions
- Concluding statements and perspectives
- References
- Section II: Neurologic diseases
- Chapter 21. Cerebral malformations
- Abstract
- Malformations of cortical development
- Malformations related to abnormal proliferation of neurons and glia
- Malformations due to abnormal neuronal migration
- Malformations related to abnormal cortical organization
- References
- Chapter 22. Global developmental delay and intellectual disability
- Abstract
- Introduction
- Diagnosis of global developmental delay and intellectual disability
- Evaluation and investigation of individuals with global developmental delay or intellectual disability
- Genetic etiologies
- Disease mechanisms
- Management
- References
- Chapter 23. Aging and dementia in Down syndrome
- Abstract
- Clinical features
- Molecular genetics
- Alzheimer disease mechanisms in Down syndrome
- Factors affecting Alzheimer disease diagnosis
- Management
- Current research
- Acknowledgments
- References
- Chapter 24. An overview of Rett syndrome
- Abstract
- Introduction
- Clinical features
- Molecular genetics
- Disease mechanisms
- Management
- References
- Chapter 25. Fragile X clinical features and neurobiology
- Abstract
- Summary
- Clinical features
- Molecular genetics
- Disease mechanisms
- Differential diagnosis
- Testing
- Management
- Acknowledgments
- References
- Chapter 26. Neurological evaluation and management of autism spectrum disorder
- Abstract
- Summary
- Medical testing
- Analytical testing clinical and ancillary testing: imaging, physiological, electrodiagnostic
- Clinical features
- Fragile X syndrome
- Molecular genetics
- Rett syndrome
- Natural history
- Molecular genetics
- Genotype–phenotype correlations
- Angelman syndrome
- Natural history
- Molecular genetics
- Disease mechanisms
- Differential diagnosis—nongenetic causes of autism
- Management
- Pharmacotherapy
- Conclusion
- References
- Chapter 27. Angelman syndrome
- Abstract
- Summary
- Clinical features
- Molecular genetics
- Disease mechanisms
- Differential diagnosis
- Testing
- Management
- References
- Chapter 28. The prion diseases
- Abstract
- Summary
- Clinical features
- Clinical subtypes of prion disease
- Molecular genetics
- Disease mechanisms
- Differential diagnosis
- Diagnostic studies
- Management
- References
- Chapter 29. Leptin-related disorders of the nervous system
- Abstract
- Leptin as a link between metabolic and neurological disorders
- Leptin functions
- Leptin in neurodevelopment
- Leptin in neurological disorders
- Leptin replacement therapy in leptin disorders
- References
- Chapter 30. Genetics of autonomic disorders
- Abstract
- Introduction
- Genetic mechanisms of autonomic dysfunction
- Hereditary sensory autonomic neuropathies
- Other inherited small fiber (sensory and autonomic) neuropathies
- Familial autonomic ganglionopathy due to mutations of ganglionic AChR
- Inherited disorders of catecholamine synthesis
- Genetics of neurodegenerative autonomic disorders
- Summary
- References
- Section III: Neurometabolic disorders
- Chapter 31. The mitochondrial genome
- Abstract
- Mitochondrial origins
- Genome organization
- Mitochondrial Inheritance
- Segregation and heteroplasmy
- DNA replication
- Transcription
- Translation
- Protein importation
- Acknowledgments
- References
- Chapter 32. Mitochondrial disorders due to mutations in the mitochondrial genome
- Abstract
- Clinical features
- Molecular genetic
- Disease mechanisms
- Differential diagnosis
- Testing
- Management
- References
- Chapter 33. Mitochondrial disorders due to mutations in the nuclear genome
- Abstract
- Clinical overview and history
- Prevalence
- Clinical presentation
- Molecular genetics and disease mechanisms
- Testing
- Management
- References
- Chapter 34. Pyruvate dehydrogenase, pyruvate carboxylase, Krebs cycle, and mitochondrial transport disorders
- Abstract
- Pyruvate dehydrogenase deficiency
- Pyruvate carboxylase deficiency
- Disorders of the Krebs cycle
- E3 deficiency
- Succinate dehydrogenase deficiency
- Fumarase deficiency
- Mitochondrial transporter disorders
- Adenine nucleotide translocator deficiency
- Malate–aspartate shuttle deficiency
- Voltage-dependent anion channels deficiency
- Carnitine transporter deficiency
- Acknowledgments
- References
- Chapter 35. Gaucher disease—neuronopathic forms
- Abstract
- Clinical features
- Early treatments
- Mode of inheritance and prevalence
- Natural history and clinical syndromes
- Typical specific features
- Auditory dysfunction
- Myoclonus
- Pathophysiology
- Differential diagnosis
- References
- Chapter 36. The Niemann–Pick diseases
- Abstract
- Summary
- Clinical features and diagnostic evaluation
- Neuroimaging and neurophysiologic studies
- Cellular pathology
- Type C Niemann–Pick disease
- Biochemical findings
- Brain immunochemical findings
- Mechanism of disease
- Molecular genetics
- Animal models
- Type C Niemann–Pick disease
- Therapy
- Type C Niemann–Pick disease
- Conclusion
- References
- Chapter 37. GM2-gangliosidoses
- Abstract
- Clinical features
- Molecular genetics
- Disease mechanisms
- Differential diagnosis
- Testing
- Management
- References
- Chapter 38. Metachromatic leukodystrophy and multiple sulfatase deficiency
- Abstract
- Introduction
- Clinical features
- Natural history
- Multiple sulfatase deficiency
- Molecular genetics
- Disease mechanisms
- Differential diagnosis
- Testing
- Management
- Therapies under investigation
- References
- Chapter 39. Krabbe disease: globoid cell leukodystrophy
- Abstract
- Clinical features
- Molecular genetics
- Disease mechanisms
- Differential diagnosis
- Testing
- Management
- Acknowledgments
- References
- Chapter 40. Leukodystrophies—an overview
- Abstract
- Introduction
- Classification and pathophysiology
- Diagnosis
- Treatment
- References
- Chapter 41. The mucopolysaccharidoses
- Abstract
- Summary
- History
- Clinical features
- Management
- References
- Further reading
- Chapter 42. The mucolipidoses
- Abstract
- Summary
- Clinical features
- Sialidosis types I and II
- Biochemical and molecular studies
- Galactosialidosis
- Biochemical and molecular studies
- Mucolipidosis II (I-cell disease)
- Biochemical and molecular studies
- Mucolipidosis III (pseudo-Hurler polydystrophy)
- Biochemical and molecular studies
- Mucolipidosis IV
- Biochemical and molecular studies
- Management
- References
- Chapter 43. Disorders of glycoprotein degradation: α-mannosidosis, β-mannosidosis, fucosidosis, sialidosis, and aspartylglycosaminuria
- Abstract
- Introduction
- Biosynthesis and biodegradation of glycoproteins
- Principle of treatment
- Acknowledgments
- References
- Chapter 44. GM1 gangliosidosis, Morquio disease, galactosialidosis, and sialidosis
- Abstract
- Biochemistry of the B-gal, protective protein cathepsin A, and neuraminidase 1 complex
- GM1 gangliosidosis and Morquio B disease
- Galactosialidosis
- Sialidosis
- References
- Chapter 45. Acid ceramidase deficiency: Farber lipogranulomatosis, spinal muscular atrophy associated with progressive myoclonic epilepsy and peripheral osteolysis
- Abstract
- Introduction
- Clinical picture
- Diagnosis
- Pathology
- Clinical genetics
- Molecular genetics
- Animal models
- Therapy
- Conclusion and future directions
- References
- Chapter 46. Wolman disease
- Abstract
- Clinical features
- Molecular genetics
- Disease mechanisms
- Differential diagnosis
- Testing
- References
- Chapter 47. Lysosomal membrane disorders: lysosome-associated membrane protein-2 deficiency (Danon disease)
- Abstract
- Human muscle disorder due to lysosomal membrane defect
- Danon disease
- Clinical features
- Muscle pathology
- LAMP-2
- LAMP-2 gene mutations
- LAMP-2 knock-out mouse and other LAMP-2 deficiency models
- Other autophagic vacuolar myopathies
- Management
- References
- Further reading
- Chapter 48. Fabry disease: α-galactosidase A deficiency
- Abstract
- Clinical features
- Mode of inheritance, incidence, and prevalence
- Natural history and clinical manifestations
- Biochemical genetics
- Molecular genetics
- Disease pathology/pathophysiology
- Differential diagnosis
- Medical management
- Summary
- Acknowledgments
- References
- Chapter 49. Schindler disease: deficient α-N-acetylgalactosaminidase activity
- Abstract
- Introduction
- Clinical features and diagnostic results
- Neuropathology
- Diagnostic evaluation
- Biochemistry
- Molecular genetics
- Relation to other gene loci
- Animal model
- Therapy
- Future research directions
- Acknowledgment
- References
- Section IV: Metabolic disorders
- Chapter 50. Organic acid disorders
- Abstract
- Summary
- Clinical features
- Mode of inheritance and prevalence
- Natural history of organic acid disorders
- Pathophysiology
- Differential diagnosis
- Molecular genetics in diagnosis
- Testing
- Treatment
- References
- Chapter 51. Glycogen and polyglucosan storage diseases
- Abstract
- Introduction
- Clinical features
- Diagnostic evaluation
- Pathology
- Biochemical findings
- Molecular genetic findings
- Animal models
- Therapy
- Conclusion
- Acknowledgment
- References
- Chapter 52. Disorders of galactose metabolism
- Abstract
- Introduction
- Classic galactosemia
- Uridine diphosphate galactose 4-epimerase deficiency
- Galactokinase deficiency
- Galactose mutarotase deficiency
- Fanconi–Bickel syndrome
- Neonatal onset type II citrullinemia
- Portosystemic venous shunting and hepatic arteriovenous malformations
- References
- Chapter 53. Inborn errors of amino acid metabolism
- Abstract
- Introduction
- Classic organic acidemias
- Maple syrup urine disease
- Glutaric aciduria type I
- Phenylketonuria and disorders of biopterin metabolism
- Tyrosinemia type 1
- Tyrosinemia type 2
- Nonketotic hyperglycinemia
- Homocystinuria
- 4-Hydroxybutyric aciduria
- Canavan disease
- Conclusion and future research directions
- References
- Chapter 54. Urea cycle disorders
- Abstract
- Summary
- Clinical features
- Neonatal presentation
- Late-onset presentations
- Disease-specific manifestations
- Outcomes
- Molecular genetics
- Expression of urea cycle enzymes and nitrogen metabolism
- Disease mechanisms/pathophysiology
- Neurological and neuroimaging aspects
- Differential diagnosis
- Testing
- Management
- Diet management
- Drug therapy
- Transplantation
- Current research
- References
- Chapter 55. Glucose transporter type I deficiency and other glucose flux disorders
- Abstract
- Overview of glucose transport
- Clinical features of SGLT1 deficiency
- Clinical features of GLUT2 deficiency
- Clinical features of GLUT1 deficiency
- Molecular genetics of GLUT1 deficiency
- Disease mechanisms in GLUT1 deficiency
- Animal models of GLUT1 deficiency
- Differential diagnosis of GLUT1 deficiency
- Testing for GLUT1 deficiency
- Treatment of GLUT1 deficiency
- Barriers to treatment development
- Acknowledgments
- References
- Chapter 56. Maple syrup urine disease: biochemical, clinical, and therapeutic considerations
- Abstract
- Introduction
- Clinical presentation of classic maple syrup urine disease
- Neuropathology of maple syrup urine disease
- Variant types of maple syrup urine disease
- Genetics and prevalence
- Macromolecular organization and component reactions
- The thiamine-responsive phenotype is linked to the presence of mutant E2 proteins
- Animal models for classic and intermediate maple syrup urine disease
- Treatments of classic maple syrup urine disease
- Domino liver transplantation in classical MSUD patients
- Small-molecule inhibitors targeting branched-chain α-ketoacid dehydrogenase kinase
- Gene therapy in MSUD model organisms
- Concluding remarks
- Acknowledgments
- References
- Chapter 57. Congenital disorders of N-linked Glycosylation
- Abstract
- Clinical features
- Molecular genetics
- Disease mechanisms
- Differential diagnosis
- Testing
- Management
- Conclusion
- References
- Chapter 58. Disorders of glutathione metabolism
- Abstract
- Glutathione and the γ-glutamyl cycle
- Disorders of enzymes in the γ-glutamyl cycle
- Excitatory amino acid transporters
- Disorders of EAAC1 leading to glutathione depletion
- Neurodegenerative diseases leading to glutathione depletion
- Neurodegenerative diseases and microRNA regulation of glutathione level
- Conclusions
- References
- Chapter 59. Canavan disease
- Abstract
- Summary
- Clinical features
- Biochemical studies
- Clinical features
- Molecular genetics
- Disease mechanisms
- Differential diagnosis
- Epidemiology
- Prevention/prenatal diagnosis
- Management
- Therapy
- References
- Chapter 60. Neurotransmitter disorders
- Abstract
- Summary
- Disorders of monoamines
- Defects of synthesis
- Aromatic L-amino acid decarboxylase deficiency
- Dopamine β-hydroxylase deficiency
- Defects of catabolism
- Defects of transport
- Defects of cofactors
- Guanosine triphosphate cyclohydrolase-I deficiency
- Sepiapterin reductase deficiency
- Disorders of γ-aminobutyric acid
- Succinic semialdehyde dehydrogenase deficiency
- GABA-transaminase deficiency
- Glutamic acid decarboxylase deficiency
- GABA receptor subunits and transporter-related diseases
- Pyridoxine-related diseases
- New categories of neurotransmission disorders
- Disorders of the synaptic vesicle cycle
- Glutamate neurotransmitter disorders
- Glycine neurotransmitter disorders
- Choline neurotransmitter disorders
- Abbreviations
- References
- Chapter 61. Peroxisomal disorders
- Abstract
- Introduction
- Clinical features
- Molecular genetics
- Disease mechanisms
- Differential diagnosis
- Diagnostic testing
- Clinical features
- Molecular genetics
- Disease mechanisms
- Differential diagnosis
- References
- Chapter 62. Purines and pyrimidines
- Abstract
- Introduction
- Disorders of purine metabolism
- Disorders of pyrimidine metabolism
- References
- Chapter 63. The acute porphyrias
- Abstract
- Introduction
- Pathophysiology
- Clinical aspects
- Diagnosis
- Treatment
- References
- Index
- No. of pages: 1010
- Language: English
- Edition: 7
- Volume: 1
- Published: September 27, 2024
- Imprint: Academic Press
- Hardback ISBN: 9780443190414
- eBook ISBN: 9780443190421
RR
Roger N. Rosenberg
JP
Juan M. Pascual
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.