Juan Pascual, M.D., Ph.D.
Professor

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Juan M. Pascual is the inaugural holder of The Once Upon a Time Foundation Professorship in Pediatric Neurologic Diseases and the holder of the Ed and Sue Rose Distinguished Professorship in Neurology. He is a tenured Professor in four Departments at The University of Texas Southwestern Medical Center at Dallas: Neurology and Neurotherapeutics, Physiology, Pediatrics and the Eugene McDermott Center for Human Growth & Development / Center for Human Genetics, and is 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 also teaches at the 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, MD, PhD, McCollum Professor and Chair. His postdoctoral research was conducted under Arthur Karlin, PhD, 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 practising 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.

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 rare diseases, glucose metabolism, mitochondrial, degenerative, and multi-organ disorders. 

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 edition, Academic Press, 2015; 6th edition in preparation). His textbook Progressive Brain Disorders in Childhood (Cambridge University Press; 1st edition) was published in 2017.

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, which Dr. Peter Hacker has made patent. 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, just as Dr. Denis Noble has argued. Dr. Pascual is a member of the North Texas Bioethics Network.

Dr. Pascual has no interest in - nor is he sponsored by - any business that conducts medical research or lobbies for financial gain.

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Patient referrals to the clinic and location of the research laboratory

Clinical research studies

Publications listed in PubMed (National Library of Medicine)

Medical School

Universidad de Granada (1990)

Graduate School

Baylor College of Medicine (1995)

Internship

Washington University. St. Louis (1999), Pediatrics

Residency

Columbia Presbyterian Medical Center (2002), Pediatric Neurology

• 2-hit, multiple-gene and explanatory validity of complex causation models
• Brain metabolism
• Clinical trials for neurological and genetic disorders
• Complex, rare and undiagnosed diseases
• Final common pathways shared by diseases of neural development
• Functional brain imaging
• Human brain development
• Mitochondrial disorders
• Neural excitability: synaptic transmission
• Neurodegenerative diseases of children
• Neurogenetics
• Sentience, autonomy and sources of truth
• Whole exome and genome analyses in neurological disorders

Featured Publications

Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency.

Jakkamsetti V, Marin-Valencia I, Ma Q, Good LB, Terrill T, Rajasekaran K, Pichumani K, Khemtong C, Hooshyar MA, Sundarrajan C, Patel MS, Bachoo RM, Malloy CR, Pascual JM Sci Transl Med 2019 Feb 11 480

Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.

Meyer K, Kirchner M, Uyar B, Cheng JY, Russo G, Hernandez-Miranda LR, Szymborska A, Zauber H, Rudolph IM, Willnow TE, Akalin A, Haucke V, Gerhardt H, Birchmeier C, Kühn R, Krauss M, Diecke S, Pascual JM, Selbach M Cell 2018 Aug

Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice.

Stoodley CJ, D'Mello AM, Ellegood J, Jakkamsetti V, Liu P, Nebel MB, Gibson JM, Kelly E, Meng F, Cano CA, Pascual JM, Mostofsky SH, Lerch JP, Tsai PT Nat. Neurosci. 2017 Dec 20 12 1744-1751

Intramyocellular lipid excess in the mitochondrial disorder MELAS: MRS determination at 7T.

Golla S, Ren J, Malloy CR, Pascual JM Neurol Genet 2017 Jun 3 3 e160

Deregulation of mitochondrial F1FO-ATP synthase via OSCP in Alzheimer's disease.

Beck SJ, Guo L, Phensy A, Tian J, Wang L, Tandon N, Gauba E, Lu L, Pascual JM, Kroener S, Du H Nat Commun 2016 7 11483

A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.

Lee EE, Ma J, Sacharidou A, Mi W, Salato VK, Nguyen N, Jiang Y, Pascual JM, North PE, Shaul PW, Mettlen M, Wang RC Mol. Cell 2015 May

Triheptanoin for Glucose Transporter Type I Deficiency (G1D): Modulation of Human Ictogenesis, Cerebral Metabolic Rate, and Cognitive Indices by a Food Supplement.

Pascual JM, Liu P, Mao D, Kelly DI, Hernandez A, Sheng M, Good LB, Ma Q, Marin-Valencia I, Zhang X, Park JY, Hynan LS, Stavinoha P, Roe CR, Lu H JAMA Neurol 2014 Aug

Analysis of tumor metabolism reveals mitochondrial glucose oxidation in genetically diverse human glioblastomas in the mouse brain in vivo.

Marin-Valencia I, Yang C, Mashimo T, Cho S, Baek H, Yang XL, Rajagopalan KN, Maddie M, Vemireddy V, Zhao Z, Cai L, Good L, Tu BP, Hatanpaa KJ, Mickey BE, Matés JM, Pascual JM, Maher EA, Malloy CR, Deberardinis RJ, Bachoo RM Cell Metab. 2012 Jun 15 6 827-37

2-hydroxyglutarate detection by magnetic resonance spectroscopy in IDH-mutated patients with gliomas.

Choi C, Ganji SK, Deberardinis RJ, Hatanpaa KJ, Rakheja D, Kovacs Z, Yang XL, Mashimo T, Raisanen JM, Marin-Valencia I, Pascual JM, Madden CJ, Mickey BE, Malloy CM, Bachoo RM, Maher EA Nature medicine 2012 Jan

Legal and ethical implications of defining an optimum means of achieving unconsciousness in assisted dying.

Sinmyee S, Pandit VJ, Pascual JM, Dahan A, Heidegger T, Kreienbühl G, Lubarsky DA, Pandit JJ Anaesthesia 2019 Feb

 Featured Books

Progressive Brain Disorders in Childhood

Pascual JM (Author) (2017). Cambridge, UK, Cambridge University Press

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Fifth Edition

Pascual, JM (Ed.); Rosenberg, RN (Ed.) (2015). San Diego, Academic Press

Floppy infant syndrome. In Merritt's Neurology, 11th and 12th edition

Pascual JM, De Vivo DC (2009). Lippincott, Williams & Wilkins

Pediatric neurology. In On Call Neurology, 2nd and 3rd edition

Pascual JM (2007). W.B. Saunders

Glucose transporter type 1 deficiency syndrome. In Merritt's Neurology, 11th and 12th edition

De Vivo DC, Pascual JM, Wang D (2009). Lippincott, Williams & Wilkins

Disorders of glucose transport. In The Molecular and Genetic Basis of Neurologic and Psychiatric Disease, 3rd and 4th editions

De Vivo DC, Wang D, Pascual JM (2008). LWW

Developmental Neurology: a molecular perspective. In Molecular Neurology, 1st edition

Pascual JM (2007). Academic Press

Metabolic diseases of the nervous system. In Molecular Neurology, 1st edition

Pascual JM (2007). Academic Press

Genetic disorders of neuromuscular development. In Molecular Neurology, 1st edition

Pascual JM (2007). Academic Press

Encephalopathies. In Neurology and Clinical Neuroscience, 1st edition

Pascual JM (2007). Mosby Elsevier

Glucose transporter 1 deficiency syndrome. In National Organization for Rare Disorders' Guide to Rare Disorders

Pascual JM, K. Engelstad, D. Wang, D. C. De Vivo (2002). Lippincott, Williams, and Wilkins

Kernicterus. In Encyclopedia of the Neurological Sciences, 2nd edition

Pascual JM (2014). San Diego, Academic Press

The Can't and Don't of Psychopathy: Neuroimaging Technologies, Psychopaths and Criminal Responsibility. In Neuroethics: Issues at the Intersection of Neuroscience and Society

Jotterand F, Pascual JM, Sadler, JZ (In press). Cambridge University Press

Disorders of Muscle Excitability. In Basic Neurochemistry, 7th and 8th edition

Pascual JM (2011). Elsevier

Disorders of the Krebs cycle and of pyruvate metabolism and transport. In Rudolph's Pediatrics, 22nd edition

Pascual JM, DiMauro S (2011). McGraw-Hill

Pyruvate dehydrogenase, pyruvate carboxylase, Krebs cycle and mitochondrial transport disorders. In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Fifth Edition

Tondo, M; Marin-Valencia, I; Ma, Q; Pascual, JM (2015). San Diego, Academic Press

Menkes disease and other ATP7A disorders. In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Fifth Edition

Pascual, JM; Menkes, JH (2015). San Diego, Academic Press

Wolman disease. In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Fifth Edition

Marin-Valencia, I; Pascual, JM (2015). San Diego, Academic Press

Glucose transporter type I haploinsufficiency. In Movement Disorders, 2nd edition: Genetics and Models

Pascual JM (2014). San Diego, Academic Press

Glucose transporter type I deficiency and other glucose flux disorders. In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Fifth Edition

Pascual, JM; Wang, D; De Vivo, DC (2015). San Diego, Academic Press

• Miembro de honor
  Academia Malagueña de Ciencias (2015)
• 100% Patient satisfaction
  Division of Pediatric Neurology, Children's Medical Center Dallas (2013)
• Elected full member
  Académie Européenne des Sciences, des Arts et des Lettres (2013)
• Research Mentor Award
  Children's Medical Center Dallas (2012)
• Elected corresponding member
  Académie Européenne des Sciences, des Arts et des Lettres (2010)
• Miembro correspondiente
  Real Academia de Bellas Artes de San Telmo (2010)
• Young Investigator Award
  Neurobiology of Disease in Children (2009)
• Miembro correspondiente
  Real Academia Española (2004)
• Miembro de número
  Academia Norteamericana de la Lengua Española (2004)

• Children's Medical Center Dallas (2007)
• Parkland Memorial Hospital (2007)
• UT Southwestern Medical Center Hospitals and Clinics (2007)