James R Lupski M.D., Ph.D.

Professor, Molecular and Human Genetics and Pediatrics

Baylor College of Medicine Intellectual and Developmental Disabilities Center
Baylor College of Medicine
One Baylor Plaza
Houston, TX 77030
713-798-7353 (tel)
713-798-8704 (fax)

Biography/Curriculum Vitae:

Research Interests:
Bardet-Biedl syndrome; CMT Peripheral Neuropathy; Smith-Magenis syndrome

Narrative of Current Research Efforts:

  1. Identification of genes responsible for Bardet-Biedl syndrome
  2. CMT Peripheral Neuropathy: IV. Genes and Pathogenesis
  3. Molecular basis of the craniofacial anomalies in SMS
  4. Development of murine models for Smith-Magenis syndrome
  5. Chromosome Rearrangements and Mental Retardation Project II: Molecular mechanism for Smith-Magenis syndrome and its recombination reciprocal

Major Honors and Awards:

Representative Publications:

Created 10/27/2005 by
Last modified 10/28/2005 by