Judith friedman, Ph.D.
Dr. Judith Friedman studies human diseases with non-Mendelian patterns of heredity. In her dissertation “Coming Full Circle: The Development, Rise, Fall, and Return of the Concept of Anticipation in Hereditary Disease,” she traced the history of one such pattern of inheritance in which certain hereditary diseases strike earlier and often more severely in succeeding generations. Judith is continuing to explore the ways in which different groups of researchers (physicians, human geneticists and medical geneticists) approach the study of several groups of diseases that involve unusual patterns of heredity. She is also examining how research into medical conditions which did not fit into the previously standard Mendelian mould were affected by the presence or absence of a scientifically demonstrated and acceptable causative mechanism.
As a Stetten Fellow affiliated with the National Institute of Neurological Disorders and Stroke (NINDS), Judith is researching two projects in which the NIH played an important role in the study of non-Mendelian forms of inheritance. She will examine how the NIH contributed to funding fundamental research into the sequencing of the mitochondrial genome and in the search for diseases associated with mutations in that genome, including Leber’s Hereditary Optic Neuropathy. Judith will also examine the role of the NIH in the discovery of expanding trinucleotide repeats. In expanding DNA diseases, the expansion of a segment of DNA in succeeding generations is associated with an earlier age of onset and more severe manifestation of disease. This peculiar pattern of heredity perplexed researchers until the discovery of the underlying genetic cause in the early 1990s.
Judith Friedman received her Ph.D. in History from the University of Victoria, Canada, in November 2008. From 2008-2010 she taught classes in the Department of History and Classics and in the Science, Technology and Society Program at the University of Alberta in Edmonton, Canada. She was a Postdoctoral Fellow at the Max Planck Institute for the History of Science, Berlin in 2010 and joined the Office of NIH History in October 2010.