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Faculty Detail    
Campus Address KAUL 238 Zip 0024
Phone 205-934-9411
Other websites

Faculty Appointment(s)
Appointment Type Department Division Rank
Primary  Genetics   Genetics Chair Office Professor
Secondary  Neurobiology  Neurobiology Professor
Secondary  Pediatrics   Pediatrics Chair Office Professor
Center  Arthritis & Musculoskeletal Diseases Center  Arthritis & Musculoskeletal Diseases Center Professor
Center  Biomedical Engineering  Biomatrix Eng Regen Med (BERM) Ctr Professor
Center  Civitan International Research Center  Civitan International Research Center Professor
Center  Comprehensive Cancer Center  Comprehensive Cancer Center Professor
Center  General Clinical Research Center  Ctr for Clinical & Translational Sci Professor
Center  Neurology   Ctr Neurodegeneration & Exp Ther (CNET) Professor

Graduate Biomedical Sciences Affiliations
Cancer Biology 
Genetics and Genomic Sciences 
Hughes Med-Grad Fellowship Program 
Integrative Biomedical Sciences 
Integrative Genetics Graduate Program 

Biographical Sketch 
A.B., Cornell University, 1974.
Ph.D., The Rockfeller University (Genetics and Cell Biology), 1979.
M.D., Cornell University Medical College, 1980.
Intern in Pediatrics, Chidren's Hospital, Boston (1980-1981)
Junior Assistant Resident in Pediatrics, Chidren's Hospital, Boston, 1981-1982.
Junior Assistant Resident in Neurology, Harvard-Longwood Neurology Training Program, 1982-1983.
Senior Assistant Resident in Neurology, Harvard-Longwood Neurology Training Program, 1983-1984.
Chief Resident in Neurology, Harvard-Longwood Neurology Training Program, 1984-1985.
Fellow in Genetics, Harvard Medical School Genetics Training Program, 1982-1985.

Society Memberships
Organization Name Position Held Org Link
ACMG Foundation for Genetic and Genomic Medicine  President   
American College of Medical Genetics  President (former)   
American Society of Human Genetics  Board of Directors (former)   
Association of Professors of Human and Medical Genetics  President (former)   
National Human Genome Research Institute  Board of Scientific Counselors (former)   

Research/Clinical Interest
Neurofibromatosis Type 1
My research is focused on the genetics and management of neurofibromatosis type 1. In collaboration with Dr. Ludwine Messiaen in the Department of Genetics, we are looking at genotype-phenotype correlations and the role of genetic modifiers. Quantitative approaches are being used to asses the NF1 phenotype, including volumetric MRI and laser scanning to assess dermal tumors. I serve as the principal investigator for a national clinical trials consortium for neurofibromatosis.

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neurofibromatosis; neurogenetics; molecular diagnosis