Journal of IiME Volume 4 Issue 1 www.investinme.org SPEAKERS and ABSTRACTS of the 5th INVEST in ME INTERNATIONAL ME/CFS CONFERENCE parvovirus B19 infection, when he showed that a percentage of infected cases developed CFS which persisted for several years. He is now the principal investigator in a programme of research in CFS. This involves development of a diagnostic test using mass spectrometry, analysis of human and viral gene expression in the white blood cells, and clinical trials of immunomodulatory drugs. Dr. Jonathan Kerr and colleagues at St. George’s University of London reported in the July 27, 2005 issue of the Journal of Clinical Pathology that a preliminary study of 25 CFS patients and 25 matched healthy controls revealed abnormalities in 35 of 9,522 genes analyzed using microarray technology. Polymerase chain reaction studies showed the same results for 16 of these genes. The study, and its results, raises some important questions. The first of which pertains to the need for funding of microbiological CFS research. He is funded (>£1million) by the CFS Research Foundation (www.cfsrf.com), a charitable organization based in the U.K., and leads a group of 5 scientists at St George's. His research on gene expression has resulted in several published papers – including evidence of 7 distinct sub types of ME/CFS. Dr. Kerr also runs a ME/CFS research program. He studied the consequences of parvovirus B19 infection in ME/CFS and showed that a percentage of infected cases developed ME/CFS which persisted for several years. He has reported 88 human genes whose dysregulation is associated with CFS, and which can be used to derive genomic CFS subtypes which have marked differences in clinical phenotype and severity. Dr Jonathan Kerr – Abstract: Study of single nucleotide polymorphisms (SNP) in Chronic Fatigue Syndrome / Myalgic Encephalomyelitis (CFS/ME) and CFS/ME subtypes Nana Shimosako, Jonathan R Kerr. 1CFS Group, Division of Clinical Sciences, St George’s University of London, London, UK. We have recently reported gene expression Invest in ME (Charity Nr. 1114035) changes in patients with Chronic Fatigue Syndrome / Myalgic Encephalomyelitis (CFS/ME) and the utility of gene expression data to identify subtypes of CFS/ME with distinct clinical phenotypes (Kerr JR et al. J Infect Dis 2008;197:1171-84). Due to the difficulties in using a comparative gene expression method as an aid to CFS/ME disease and subtype-specific diagnosis, we attempted to achieve such a method based on single nucleotide polymorphisms (SNP) alleles. To identify SNP allele associations with CFS/ME and CFS/ME subtypes, we tested genomic DNA of CFS/ME patients (n=108), endogenous depression patients (n=17), and normal blood donors (n=68) for 454 - 504 human SNP alleles based within 88 CFS-associated human genes using the SNP Genotyping GoldenGate Assay (Illumina, San Diego, CA, USA). 359 Ancestry informative markers (AIM) were also examined. 21 SNPs were significantly associated with CFS/ME, when compared with depression, & normal groups. 148 SNP alleles had a significant association with one or more CFS/ME subtypes. For each subtype, associated SNPs tended to be grouped together within particular genes. AIM SNPs indicated that 4 subjects were of Asian origin while the remainder were Western European. Hierarchical clustering of AIM data confirmed the overall heterogeneity of all subjects. This study provides evidence that human SNPs located within CFS/ME associated genes are associated with particular gene expression subtypes of CFS/ME. Further work is required to develop this into a clinically useful aid to subtypespecific diagnosis. Dr. Nancy Klimas MD Dr Nancy Klimas MD, is a Professor of Medicine, Psychology, Microbiology and Immunology at the University of Miami School of Medicine. She is the University’s director of the Allergy and Immunology Clinic as well as Director of Research for the Clinical AIDS/HIV Research at the Miami Veterans Affairs Medical Centre. She is a member of the federal CFS Advisory Committee (CFSAC) and former President and Page 50/56

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