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

Associate Professor

Endowed Title: The Once Upon a Time Foundation Professorship in Pediatric Neurologic Diseases

Department: Neurology & Neurotherapeutics, Eugene McDermott Center for Human Growth & Development, Pediatrics, Physiology

Graduate Programs: Integrative Biology, Neuroscience

Biography

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Juan M. Pascual is the inaugural holder of The Once Upon a Time Foundation Professorship in Pediatric Neurologic Diseases. He is a tenured faculty member in the Departments of Neurology and Neurotherapeutics, Physiology and Pediatrics and in 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.

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 from the Universidad de Granada, Spain (founded in 1526 by Emperor Charles V). He received his Ph.D. degree in Molecular Physiology and Biophysics from Baylor College of Medicine in Houston, Texas. His postdoctoral research was conducted at the Center for Molecular Recognition, College of Physicians and Surgeons of Columbia University and 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, in press). He is now writing his new textbook Progressive and Degenerative Brain Disorders in Children (Cambridge University Press, scheduled for publication in 2015).

An avid reader, speaker and humanist, Dr. Pascual is also interested in metaphysics and the philosophy of mind. He is particularly concerned with the study of autonomy (both as a predicate of historical significance and as a human developmental phenomenon) and with the definition and appearance of sentience in man. He is a member of the North Texas Bioethics Network, tasked with enhancing community service, promoting public and professional education and increasing collaborative opportunities for research, teaching and contributions to the literature in the field of bioethics.

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)

Education

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 - NY (2002), Pediatric Neurology

Specialty Areas

Clinical Interests

  • Complex, Rare and Undiagnosed Brain Disorders
  • Mitochondrial Disorders
  • Neurodegenerative Diseases of Children
  • Neurogenetics
  • Neurological and Genetic Disorders

Research Interests

  • 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

Publications

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Featured Publications

A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome.

Ali Z, Xing C, Anwar D, Itani K, Weakley D, Gong X, Pascual JM, Mootha VV Mol. Vis. 2014 20 368-75

Alternating Hemiplegia of Childhood With a de Novo Mutation in ATP1A3 and Changes in SLC2A1 Responsive to a Ketogenic Diet.

Ulate-Campos A, Fons C, Artuch R, Castejón E, Martorell L, Ozelius L, Pascual J, Campistol J Pediatr. Neurol. 2013 Dec

Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.

Chanprasert S, Wang J, Weng SW, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ Mol. Genet. Metab. 2013 Jul

Modeling of brain metabolism and pyruvate compartmentation using (13)C NMR in vivo: caution required.

Jeffrey FM, Marin-Valencia I, Good LB, Shestov AA, Henry PG, Pascual JM, Malloy CR J. Cereb. Blood Flow Metab. 2013 May

Atlas of Inherited Metabolic Diseases, 3rd ed.

Pascual JM Arch. Neurol. 2012 Nov 69 11 1521-2

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Books

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Featured Books

Honors/Awards

  • 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)

Professional Associations/Affiliations

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