Academic Lectures

Presentation by: Victor McKusick, M.D. of
The McKusick-Nathans Institute of Genetic Medicine

The Clinical Legacy of Jonathan Hutchinson (1828-1913) Syndromology and Dysmorphology Meet Genomics

Welcome: Lloyd B. Minor, M.D., Andolet Professor and Director of Otolaryngology-Head and Neck Surgery; The Johns Hopkins University School of Medicine -video-

Remarks: Jack Levine, M.D., Professor, Laboratory Medicine and Medicine; University of California, San Francisco -video-

Introduction of Speaker: James J. Sciubba, D.M.D., Ph.D., Professor and Director, Division of Dental and Oral Medicine; Department of Otolaryngology-Head and Neck Surgery; The Johns Hopkins University School of Medicine -video-

Speaker: Victor A. McKusick, M.D.; University Professor of Medical Genetics; McKusick-Nathans Institute of Genetic Medicine; The Johns Hopkins University School of Medicine -video-

Voice over Power Point Slide
- Directions for viewing lectures-
Lectures are in approximately 15 minute segment

1. 1800's Jonathan Hutchinson's Career History-Slides 1-24
Two Genetic Syndromes first described by Jonathan Hutchinson Progeria and Spots Syndrome

2. 1947 Dr. Victor McKusick- Osler Service-Slides 25-49
Dr. Victor McKusick's first experience with Peutz-Jeugers Syndrome was when Harold Parker came to the Osler Service- Clinical Case Jeujeunal Pylops

3. 1970's Heyday of Gene Mapping-Slides 50-71
The Gene Protein Paradox

  • Through Alternative splicing and various processing, 1 gene could encode multiple proteins
  • The Candidiate Gene approach used to define DNA defect in Progeria
  • The stereotypic Mutant Genotype of Hutchinson-Gilford Syndrome
  • Laminopathies-typical nuclear change
  • OMIM

4. Paradigm Shifts-Slides 72-95
The Paradigm Shifts

  • Single gene disorders-->Complex Traits (Multifactorial Disorders)
  • Genetic Disease Diagnosis-->Common Disease Prediction (Susceptibility
  • Etiology (Specific Mutation)-->Pathogenesis (Mechanism)
  • One Gene at a Time approach-->Families of Genes, pathways, systems
  • Genomics-->Proteomics