Comments on: The Road to Genetic Cures http://www.scienceline.org/2007/02/01/biology-hapmaps-leach/ The Shortest Distance Between You and Science Fri, 20 Nov 2009 14:16:34 -0500 http://wordpress.org/?v=2.8.4 hourly 1 By: Ben Leach http://www.scienceline.org/2007/02/01/biology-hapmaps-leach/comment-page-1/#comment-740 Ben Leach Sun, 11 Mar 2007 22:18:00 +0000 http://scienceline.org/2007/02/01/biology-hapmaps-leach/#comment-740 Thanks for your comment, Dr. Sackler. Josephine Hoh's discovery of the variant in complement factor H, a gene that is normally involved in regulating inflammatory pathways, (published in Science in 2005)involved a genome-wide association study, aided by the HapMap. The variation in CFH causes two proteins to not bond properly, thus leading to macular degeneration. This discovery was indeed a major breakthrough, finding a genetic basis for macular degeneration. In 2006, Johanna Seddon's team from Harvard (the one cited in my story) used the HapMap to explore unknown regions of DNA. They were actually focusing on a single nucleotide polymorphism (SNP) not involved in macular degeneration when they identifed three nearby SNP's that are highly involved in the disease. HapMap technology has clearly facilitated discoveries of the gene variations associated with macular degeneration. Thanks for your comment, Dr. Sackler. Josephine Hoh’s discovery of the variant in complement factor H, a gene that is normally involved in
regulating inflammatory pathways, (published in Science in 2005)involved a genome-wide association
study, aided by the HapMap. The variation in CFH causes two proteins to not bond properly, thus leading to macular degeneration. This discovery was indeed a major breakthrough, finding a genetic basis for macular degeneration.

In 2006, Johanna Seddon’s team from Harvard (the one cited in my story) used the HapMap to explore unknown regions of DNA. They were actually focusing on a single nucleotide polymorphism
(SNP) not involved in macular degeneration when they identifed three nearby SNP’s that are highly involved in the disease. HapMap technology has clearly facilitated discoveries of the gene variations associated with macular degeneration.

]]> By: Richard Sackler http://www.scienceline.org/2007/02/01/biology-hapmaps-leach/comment-page-1/#comment-668 Richard Sackler Sun, 04 Feb 2007 14:55:41 +0000 http://scienceline.org/2007/02/01/biology-hapmaps-leach/#comment-668 This article makes fundamental errors. First, the breakthrough discoveries were made at Yale, not at Harvard, by Josephine Hoh. Second, the discoveries of the two principle genes for AMD did not depend upon the Hap Map project at all. I know that the Hap Map enthusiasts have laid claim to this "success" but the work involved a whole genome wide scanning and then meticulous genotyping of the regions discovered. It was classical genetics in which the Hap Map played almost no role at all. Please write or call me if you want more information. You should write another article about this work. sackler@rockefeller.edu This article makes fundamental errors. First, the breakthrough discoveries were made at Yale, not at Harvard, by Josephine Hoh. Second, the discoveries of the two principle genes for AMD did not depend upon the Hap Map project at all. I know that the Hap Map enthusiasts have laid claim to this “success” but the work involved a whole genome wide scanning and then meticulous genotyping of the regions discovered. It was classical genetics in which the Hap Map played almost no role at all.
Please write or call me if you want more information. You should write another article about this work.
sackler@rockefeller.edu

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