Education and Training
Undergraduate: Case Western Reserve University 5/90
B.A., magna cum laude
Medical School: Case Western Reserve University 8/96
Doctor of Medicine
Internship/Residency: The Ohio State University 6/99
Medical Genetics University of Pittsburgh Medical Center 6/14
Fellowship Pittsburgh, PA
Clinical Research University of Pittsburgh 8/14
Education Fundamental skills in clinical research
for physicians – 8 week intensive course
at the Institute for Clinical Research
Education with funding from the NIH
As a medical geneticist, a family physician, and a veteran, I possess a unique set of skills and experiences that has prepared me to be thorough, organized, and efficient. In my years of practice as a family physician, I became interested in the familial predispositions for common illness and response to therapies. I realized that improved recognition and understanding of the genetic basis of disease would impact management, monitoring, and therapeutic choices. As it is increasingly clear to me that genetics is playing an increasing role in all fields of medicine, I felt compelled to enter medical genetics training. Adult genetic disease is an area of particular interest to me, as I believe that this is an area in which my skills are particularly needed. As there is an increasing recognition of later onset metabolic diseases with milder symptoms or altered presentations, I believe that there is a great need for geneticists who are knowledgeable about usual and unusual presentations of adult disease.
As I have practiced in diverse settings in and out of the military, I have had the opportunity to be involved in planning and implementing process improvement. I have provided continuity clinical experiences for nurse practitioners, family practice residents and medical students. I was instrumental in organizing an ongoing weekly lecture series for our second year clinical genetic residents at UPMC. I have provided regular lectures to the family practice residents and faculty during my genetics fellowship, and plan to continue these endeavors.
I performed research in the Pittsburgh Cytogenetics Laboratory of UPMC on microarray analysis and interpretation in conjunction with phenotypic findings. I also explored unique and undiagnosed cases and attempted to narrow the genes and regions of interest. I participated in the REACH program in the summer of 2014 offered by UPMC through the Institute for Clinical Research Education that provided education to enhance clinical research skills among physicians. I believe that this unique set of skills and experiences makes me well suited to assist in identifying and studying monogenic diabetes, so that we can improve recognition and treatment for these patients.
Contributions to Science
As a medical genetics resident at the University of Pittsburgh Medical Center, I investigated microarray abnormalities in similar regions on chromosome 13, lending further evidence that EFBN2 may be involved in in utero sexual development of males. I presented data from the analysis and literature review at Endo 2013 and the ACMG annual meeting in 2014.
As a medical student on a summer research internship, I assisted in the lab of Dr. Thomas and Theresa Pretlow, who were evaluating the utility of PSA and prostate specific acid phosphatase as possible markers of prostate cancer metastasis.
As a research assistant in a mucin biochemistry lab, I assisted in collecting and analyzing samples from pig submaxillary glands. The major objective of this research was to further elucidate the structure and function of the cystic fibrosis trans-membrane conductance regulator.