Edward E.r. Mccabe M.d. Ph.d

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Professor Emeritus, Department of Bioengineering
Professor & Mattel Executive Endowed Chair,
Department of Pediatrics
Professor, Department of Human Genetics

 

Education

  • B.A., Johns Hopkins University, 1967
  • M.D., Ph.D., University of Southern California, 1974

Awards and Recognitions

  • Elected to the Institute of Medicine in 2001
  • Elected a Fellow of the American Association for the Advancement of Science in 2003.
  • Member of the Health and Human Services Select Panel on Newborn Screening for the Maternal and Child Health Bureau (1987-2000). 
  • Chaired the Committee on Genetics of the American Academy of Pediatrics (1987-1991). 
  • In 1990, he co-founded the Section on Genetics of the American Academy of Pediatrics and served as Chair (1993-1995) of the Executive Committee. 
  • Chaired the Scientific Advisory Committee on Neural Tube Defects of the Texas Department of Health (1992-1994). 
  • Member of the Medical Genetics Residency Review Committee for the Accreditation Council for Graduate Medical Education (1993-1997). 
  • President of the American Board of Medical Genetics (1995-1996). 
  • Chaired the Basil O’Connor Award Committee for the March of Dimes and Birth Defects Foundation. 
  • Member of the National Advisory Child Health and Human Development Council of the National Institutes of Health (1995-1999). 
  • Member of the Committee on Certification, Subcertification and Recertification (COCERT) of the American Board of Medical Specialities (1996-2000). 
  • Co-Chair of the May 1999 Newborn Screening Task Force sponsored by the American Academy of Pediatrics and the Maternal and Child Health Bureau. 
  • Member of the Human Cloning Panel, Committee on Science, Engineering and Public Policy, National Academy of Sciences (2001-2002). 
  • Chair of the Secretary’s Advisory ommittee on Genetic Testing (1998-2002). 
  • President (2001-2002) of the American College of Medical Genetics and President of the Western Society for Pediatric Research (2002). 
  • Member of the American Pediatric Society Council (2002-2007)
  • Chair of the Secretary’s Advisory Committee on Genetics, Health and Society (2002-Present).

Research Interests

Our group was one of the first to develop a systematic structure to explain why genotype did not predict phenotype for human genetic diseases, and why the phenotypes of even “simple” Mendelian disorders are complex traits. We are now using cultured cells and model organisms to explore this complexity, focusing on the following genetic diseases. Glycerol kinase deficiency (GKD) can be caused by a contiguous gene deletion syndrome (complex GKD of cGKD) involving Xp21 or point mutations affecting only the GK gene. We are developing methods and algorithms to identify small gene deletions using representational oligonucleotide microarray analysis (ROMA) for Xp21 and other genomic deletions as well as genome-wide single nucleotide polymorphism (SNP) analyses to identify modifier loci. To investigate the pathogenesis of isolated GKD we are examining gene expression microarrays using tissues from Gyk knockout (KO) mice and systems biology algorithms to reduce the high dimensionality microarray data to low dimensionality output. These results are identifying other pathways in which the GK protein is involved, including apoptosis. Investigations of the gene immediately telomeric to GK, known as DAX1or NR0B1, are being performed in zebrafish. In humans, loss of DAX1 function leads to abnormal development of the adrenal glands and death. We have demonstrated DAX1 expression in the interrenal gland (adrenal equivalent) in zebrafish. We are using methods developed in Dr. James Dunn’s laboratory (also in Bioengineering) in mice to attempt to identify adrenal stem cells in zebrafish, and we are developing micro-devices to separate these stem cells from the larger bulk of cells – essentially fluorescence activated cell sorting (FACS) on a chip. Dax1 is the earliest expressed marker in zebrafish tooth development and we are investigating its role in initiation of the primary tooth and in enamelogenesis. Our investigations in adrenal and tooth development are proposed to have eventual applications in regenerative medicine. We are collaborating on a variety of device-development projects to facilitate our research and that of others.

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