News from the McKusick-Nathans Institute of Genetic MedicineVolume 1, Issue 1 – March 2009 Optimized for viewing in HTML
This and past issues can be found online here.
Top StoriesIndividualized Medicine Comes to Johns HopkinsPicture every one of the 6 billion people on this planet shimmying all their 46 tightly packed bundles of DNA – containing 20,500 genes – into “average-sized” jeans, one-size-fits all. Imagine vanilla ice cream only. No pistachio, butter pecan or Cherry Garcia. It’s neither a pretty thought nor a tasty proposition. That’s because, despite being remarkably similar on a genetic level – in fact, the genomes of any two people are more than 99 percent the same – each recalcitrant one of us remains unique. Even a tiny fraction of variation between the three billion DNA letters that make up one’s genome and that of another can account for the difference between being an XS or an XL; between a penchant for peanuts and a life-threatening allergic reaction to them. These slight genetic variations – most of which have little or no impact, but some of which have huge implications – imply that every one of us – each a collection of 100 trillion cells – has his or her own “flavor of health or disease,” observes David Valle, M.D., director of the Johns Hopkins McKusick-Nathans Institute of Genetic Medicine. And yet, physicians practice what Valle calls “average” medicine; average not in sense of “mediocre” but standard. One-flavor-fits-all. Read more. Meet a Scientist: Akhilesh Pandey on Discoveries, Databases and the Sociology of ScienceQ: A major focus of your work is to find biomarkers for cancers – molecules in the bloodstream that allow for early detection. What’s the best way to go about this daunting task? Pandey: The field is still not settled about what is the best way to find biomarkers. The issue is, do we need to find more markers or can we benefit from the already-published reports out there that no one is paying attention to? In my lab, we are experimentalists and also do bioinformatics. Our attitude is that these two paths are not mutually exclusive: that of discovering new markers and re-exploring old ones that haven’t yet been sorted out as good or bad. Read more. Victor A. McKusick Papers Now OnlineAs part of its Profiles in Science project, the National Library of Medicine has collaborated with Hopkins’ Alan Mason Chesney Medical Archives to digitize and make available over the World Wide Web a selection of the Victor A. McKusick Papers for use by educators and researchers. This site provides access to the portions of the papers that have been selected for digitization. Edmond A. “Tony” Murphy 1925-2009Edmond Anthony “Tony” Murphy, M.D., former professor of medicine and chief of medical genetics at the Johns Hopkins University School of Medicine, died in January. He was 83. Born in Swansea, Glamorganshire in Wales, U.K., Murphy received his medical training at Queen’s University in Belfast. He came to Johns Hopkins as a clinical fellow in 1956, and became a full professor of medicine in 1974, holding joint appointments in the departments of biology and biostatistics and epidemiology. Chief of medical genetics from 1974 to 1985, Murphy worked in the Moore Clinic and was a long-time colleague of the late Victor A. McKusick, founder of the field of medical genetics, who died last year. Murphy is remembered for his wry sense of humor, magnetic personality and gentle retiring nature. Having received an Sc.D. in biostatistics from the Johns Hopkins University in 1964, Murphy also was a mathematician and philosopher who wrote six books on topics ranging from the logic of medicine to biostatistics. Often described as a polymath, Murphy brought discussions of a wide range of ideas and topics to his classes and is remembered as a favorite teacher by many. Murphy retired to Spain in 1994 and is survived by a niece and nephew, with whom he lived outside Barcelona. | 
