My main interest is in Bleeding and Thrombosing disorders: Molecular genetic aspects of hemophilia and von Willebrand disease. My research experience was with Dr. Steve S. Sommer, M.D., Ph.D., studying the molecular genetics of coagulation proteins. I worked on isolating and sequencing members of the factor IX gene family (factors X, VII, and protein C) in non-mammalian species. The members of this family play an important role in blood coagulation. They share in common certain amino acids that have been conserved through evolution. Using the nucleotide bases that code for these amino acids, we are able to design primers for the PCR isolation and amplification of these genes in non-mammalian species such as fish, chicken, alligator, and hawk. We have been successful in isolating and determining the sequence of at least one member of the family (factors IX, X, VII, and protein C) in each species. The information that we can elucidate from determining the above will:
- Help to define those amino acids essential for factor specific interactions.
- Test the critical/spacer model of protein structure where certain amino acids are found to be essential (critical) for protein function and others act as spacers, i.e., they hold the critical amino acids in the correct configuration for normal protein function.
- Contribute to our knowledge of evolution and the process of mutation.
In fish and birds, "orphan" genes have been found with certain domains (in the gene) called Gla, EGF, activiation, and serine protease domains, but these have no homology (similarity) to any of the factors in the above mentioned factor IX gene family. We will search for these orphan genes in mammals.
In addition, to the above, I received training in DNA-based diagnosis. My experience provided a foundation for future research and diagnostic laboratory work in molecular hematology.