Philadelphia University + Thomas Jefferson University

Uitto, Jouni J

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Jouni J. Uitto, MD, PhD

Contact Dr. Uitto

233 South Tenth Street
Bluemle Life Sciences Building, Suite 450
Philadelphia, PA 19107

(215) 503-5785

Medical School

MD, University of Helsinki - 1970
PhD, Biochemistry - 1970

Residency

Washington University School of Medicine, MO

Fellowship

Hospital of University of Pennsylvania (HUP)

Board Certification

Dermatology

Hospital Appointment

Thomas Jefferson University Hospital

Expertise and Research Interests

Jouni Uitto, MD, PhD, has been professor of dermatology and cutaneous biology, and biochemistry and molecular biology, and chair of the Department of Dermatology and Cutaneous Biology at Jefferson Medical College, in Philadelphia, Pennsylvania, since 1986. He is also Director of the Jefferson Institute of Molecular Medicine at Thomas Jefferson University. He received his MD and PhD degrees from the University of Helsinki, Finland, and completed his residency training in dermatology at Washington University School of Medicine, St. Louis, Missouri.

Dr. Uitto is internationally recognized for his research on connective tissue biochemistry and molecular biology in relation to cutaneous diseases and skin aging. Dr. Uitto's publications include 610 original articles in peer-reviewed journals, 285 textbook chapters and review articles, and 907 abstracts on presentations at national and international meetings.

Dr. Uitto has been the recipient of numerous national and international awards, including a Research Career Development Award from the National Institutes of Health, the Distinguished Service Award from the Dystrophic Epidermolysis Bullosa Research Association of America, the William Montagna Lectureship Award from the Society for Investigative Dermatology, the Hermann Pinkus as well as Elson B. Helwig Memorial Lectureship Awards from the American Society of Dermatopathology, the Earl of Litchfield Lectureship Award of Oxford University, The Dohi Memorial Lectureship Award from the Japanese Dermatological Society, and the Kung-Sun Oh Memorial Lectureship from Yonsei University, Seoul, Korea. In 1993, he was selected as the recipient of the Marion B. Sulzberger Memorial Award and Lectureship and was designated as the "Professor of the Year" by the American Academy of Dermatology. Dr. Uitto has been awarded the prestigious Matti Äyräpää Lectureship, the highest physician-scientist award in his native country, Finland. In 1996, Dr. Uitto was appointed as Anglo-American Visiting Professor of the Royal Society of Medicine, London, United Kingdom. Most recently, he was the recipient of the first SID Kligman/Frost Leadership Award presented at IID, Kyoto, Japan. He has received an Honorary Doctorate in Medicine from the University of Kuopio, the University of Oulu, and the University of Turku, Finland, as well as the Honorary Professor title from China Medical University, and Honorary Visiting Professor from the University of Helsinki.

Dr. Uitto has held office in several scientific and professional societies, including President of the Society for Investigative Dermatology, President and Chairman of the Board of Trustees, the Dermatology Foundation, Member and Chair of the General Medicine A Study Section, Board of Scientific Counselors, National Cancer Institute, and National Advisory Council, National Institute for Arthritis and Musculoskeletal and Skin Diseases, all at National Institutes of Health. Dr. Uitto is also section editor of the Journal of Investigative Dermatology and is on the editorial boards of numerous peer-reviewed journals.

Publications

Most Recent Peer-Reviewed Publications

  1. The Importance of Research Data Sharing: The Meeting Reports Section of the JID
  2. Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications
  3. Plasma PPi Deficiency Is the Major, but Not the Exclusive, Cause of Ectopic Mineralization in an Abcc6–/–Mouse Model of PXE
  4. Pro-Inflammatory Chemokines and Cytokines Dominate the Blister Fluid Molecular Signature in Patients with Epidermolysis Bullosa and Affect Leukocyte and Stem Cell Migration
  5. Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes
  6. Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa
  7. Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis
  8. Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation
  9. Expanding the genotypic spectrum of bathing suit ichthyosis
  10. Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum
  11. Misbalanced CXCL12 and CCL5 Chemotactic Signals in Vitiligo Onset and Progression
  12. SVEP1 plays a crucial role in epidermal differentiation
  13. Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium—2016
  14. Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity
  15. Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages
  16. Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability
  17. Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis
  18. Elevated dietary magnesium during pregnancy and postnatal life prevents ectopic mineralization in Enpp1asjmice, a model for generalized arterial calcification of infancy
  19. Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa
  20. Hyaline fibromatosis syndrome: A novel mutation and recurrent founder mutation in the CMG2/ANTXR2 gene