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George H. Thomas, Ph.D.
Kennedy Krieger Institute
707 N. Broadway
Baltimore, MD 21205
Phone: (443) 923-2784
Dr. George H. Thomas is a research scientist at the Kennedy Krieger Institute. He is also a professor of pediatrics and pathology with a joint appointment in medicine at the Johns Hopkins University School of Medicine.
Dr. Thomas received his bachelor's of arts from Western Maryland College and went on to obtain a doctoral degree at the University of Maryland in 1963. He is a member of the American Board of Medical Genetics in clinical cytogenetics, the American Board of Medical Genetics in biochemical genetics and is a fellow of the American College of Medical Genetics.
Three to five percent of all newborn infants suffer some degree of intellectual disability and/or developmental disability. There are, moreover, data indicating that a significant number of these problems result from genetic defects (i.e., single gene defects, contiguous gene abnormalities and/or gross chromosomal alterations). Dr. George Thomas’ laboratory is interested in learning more about the role of such genes in both normal and abnormal mental, behavioral and physical development.
Throughout his 41 years at the Kennedy Krieger Institute and the Johns Hopkins University, Dr. Thomas’ main teaching, research and clinical interests have been in the area of medical genetics with particular focus on cytogenetic abnormalities and inborn errors of metabolism associated with developmental abnormalities, subnormal mental capacity and/or degenerative disorders in humans. Much of Dr. Thomas’ work has been directed towards obtaining a better understanding of the genetic and/or biochemical alterations associated with (and presumptively responsible for) handicapping conditions in children. In addition to his own interests, his laboratory provides a variety of specialized techniques required for genetic studies for the clinical staff as well as other investigators of the Kennedy Krieger Institute.
Currently, his laboratory is utilizing cytogenetic techniques to identify small chromosomal abnormalities (microdeletions, translocations, duplications, etc.) that appear to be associated with specific types of physical and/or mental abnormalities. With the availability of the sequence and mapping data available from the recent human genome publications, it is now possible to utilize many of the structural abnormalities to identify the causative gene(s) for specific syndromes, abnormalities and/or birth defects. Once such chromosomal abnormalities are identified, they are analyzed and, in so far as possible, characterized by FISH analyses. A computer search of various public databases is then carried out to identify candidate genes that might be disturbed by the chromosomal abnormalities in question. Once such genes are identified, molecular investigations are undertaken to determine if, in fact, there is evidence to support or rule out the involvement of the particular genes of interest.
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