Dr. Michael Pfrender on Genomics & Rare Diseases

November 18, 2011. Professor Michael Pfrender, Department of Biology, University of Notre Dame with CRND students. (Photo: Wall, 2011)

Professor Michael Pfrender, Director of the Genomics Core in UND's Department of Biology has a broad set of interests in evolutionary and ecological genomics, particularly adaptations in natural populations that are responsive to changing environments. Recently, Dr. Pfrender shared his interests in Genomic Medicine and rare diseases with CRND students. Program Coordinator, Ms. Marisa Truong summarized the points of emphasis: "the implications of high throughput sequencing to rare diseases and the issues surrounding too much data." Yes, that can be a problem!

High-Throughput Screening is a mode of experimentation that allows researchers to conduct millions of genetic tests rapidly and relatively inexpensively in order to map out the dynamic relationships among the gene functions and their products. The interactive bio-networks or biological pathways illuminated by high-throughput screening are vital to modeling disease processes as systems. While a few diseases are the result of singular genetic mutations, most are a consequence of multiple genetic variables interacting over time within changing environments. Additionally, some genes influence the development of more than one disease.

Dr. Pfrender referenced an article in the New York Times, "Redefining Disease, Genes and All," and pointed to its excellent illustration of gene clusters associated with various diseases.** Proportionate visual mapping illustrates the number of genes associated with particular disorders in a way that makes the relationships among elements of very large datasets more easily comprehensible. Dr. Pfrender also talked with students about the importance of databases, computational processing and the ability to take innovative and diverse approaches to the same problems - for example, combining the results of multiple molecular studies and performing computational analyses to generate new questions and findings from the original data.

Dr. Pfrender conveyed to students the kinds of questions new technologies allow us to ask about the evolution of the genome and its responses to accumulations of environmental stress over time. He introduced the concept of "fitness" as the body's ability to maintain "phenotypic plasticity and adaptive evolution." In his explanation of the interaction between disease progression and a changing genomic environment, Dr. Pfrender helped students understand that there are multiple points along the way where the body's evolutionary ability to adapt may be favorably aided. Finding these points is crucial.

In addition to explaining the potential benefits of utilizing the tools of genomic medicine, Dr. Pfrender also recalled the film Gattaca and discussed the ethical considerations that must be addressed in preventing social harm and discrimination based on genetic profiles. Science is close to catching up to science fiction in terms of technological capability and it is essential that safeguards be maintained to ensure the application of these technologies for the benefit of society and the cure of diseases.

With the advent of new technologies and methods discussed by Dr. Pfrender, the cost of experimentation is changing beneficially in the direction of helping diseases previously orphaned by the unmanageable costs of experimentation for relatively small patient populations. CRND thanks Dr. Pfrender for sharing his expertise, passion and enthusiasm for the potential breakthroughs in rare diseases, which are now on the horizon.


**Note! The source of the New York Times illustration was an article and set of figures published by members of the University of Notre Dame Center for Complex Network Research and Department of Physics. Link to the original article and source maps at :Goh KI, Cusick ME, Valle D, Childs B, Vidal M, Barabási AL. "The human disease network". Proceedings of the National Academy of Science U S A. 2007 May 22;104(21):8685-90




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