Keynote Forum
Speakers
Poster
Speakers
Fatemeh Babaie
Semnan University of Cellular and Molecular Biology IranTitle: A genomic atlas of systemic interindividual epigenetic variation in humans
Abstract:
DNA methylation is thought to be an important determinant of human phenotypic variation, but its inherent cell type specificity has impeded progress on this question. At exceptional genomic regions, interindividual variation in DNA methylation occurs systemically. Like genetic variants, systemic interindividual epigenetic variants are stable, can influence phenotype, and can be assessed in any easily biopsiable DNA sample. We describe an unbiased screen for human genomic regions at which interindividual variation in DNA methylation is not tissue-specific. For each of 10 donors from the NIH Genotype-Tissue Expression(GTEx) program, CpG methylation is measured by deep whole-genome bisulfite sequencing of genomic DNA from tissues representing the three germ layer lineages: thyroid (endoderm), heart (mesoderm), and brain (ectoderm). We develop a computational algorithm to identify genomic regions at which interindividual variation in DNA methylation is consistent across all three lineages. This approach identifies 9926 correlated regions of systemic interindividual variation(CoRSIVs). These regions, comprising just 0.1% of the human genome, are inter-correlated over long genomic distances, associated with transposable elements and subtelomeric regions, conserved across diverse human ethnic groups, sensitive to periconceptional environment, and associated with genes implicated in a broad range of human disorders and phenotypes. CoRSIV methylation in one tissue can predict expression of associated genes in other tissues. In addition to charting a previously unexplored molecular level of human individuality, this atlas of human CoRSIVs provides a resource for future population based investigations into how interindividual epigenetic variation modulates risk of disease.
Biography:
Student of cellular and molecular biology, Medical researcher, International degree in genetic engineering, Participated in the 3rd international neuroinflammation congress and the 3rd international student festival of neuroscience organized by neuroscience department, mashhad university of medical science, Participated in the 3rd international biotechnology congress of Islamic republic of Iran, Participated in the 3rd international congress on biomedicine2019, Participated in the 8th International Conference on Women’s Health, Tehran, Iran
Mette Pedersen
University of Copenhagen DenmarkTitle: Genetics and voice production in childhood and adolescence a review
Abstract:
Adolescence is a challenging time of change in voicing, normally and in pathology. An increased focus on voice production in relation to genetics can expand our knowledge of the onset of puberty and voice change. Our aim with this review was to connect research of genetics to voice production in adolescence. We need further understanding of the developmental background of voice in childhood and adolescence, because many genetic multi handicaps include voice production. Genetic development related to voice production was the focus in a search made by the Royal English Society of Medicine, with only a few results. We supplemented with references to genetic studies of adults and animals as well as adjacent areas of voice production. The genetic development of voice production is steered from the hypothalamus probably related to growth hormone. The genetic voice production in adults form the basis for understanding development. Some research results were found related to the pubertal steps. The findings are important in the future, using advanced voice analysis and artificial intelligence methods in patients with Multi handicaps.
Biography:
She is a President and Chair at the Seventh World Voice Consortium Congress, Copenhagen, Denmark on 2017. 2015 Honored Professor of Medicine, International Bibliographical Centre, Cambridge 1997. Thesis title: biological development and the normal voice in puberty, Gentofte University hospital ENT Dpt. lead by prof. M.Tos and Oulu University, Phoniatrics, Finland.1975 Ear-Nose-Throat specialist Copenhagen. 1965 Medical final university examination, Copenhagen
Poster
Fauzia Imtiaz
DOW INTERNATIONAL MEDICAL COLLEGE PakistanTitle: Familial Hypercholesterolemia: Complications and presentation of Diverse Mutations
Abstract:
Statement of the Problem:
Familial Hypercholesterolemia (FH) is an autosomal dominant disorder caused by the mutation in LDLr gene. In Pakistan the frequency of FH was observed as 1 in 250 individuals. Uptill now worldwide frequency of FH is 1: 500. Different mutations were observed in LDLr gene and till now over 1700 were reported in many population.
Methodology & Theoretical Orientation: In Pakistan 7 types of mutations were identified, among them PCSK9 was more common. The clinical manifestation observed in most all of them were presence of tendon xanthomatas, arcus cornea and generalized atherosclerosis. Development of aortic and supravalvular stenosis leads to premature Myocardial infarction. The high prevalence may have founder effect due to which there is loss of genetic variability in a population occur. This may happens due to migration of small no of individuals who carry FH mutation with them and it showed its effect latter in coming generations.
Findings:
Conclusion & Significance: The clinical complication related with various mutations are atherosclerosis, stenosis of aortic and ventricular valves and premature heart attacks are common.
Biography:
Dr Fauzia Imtiaz is working as professor of Biochemistry at Dow University of Health Sciences. She completed her MBBS, M.Phil and Ph.D from Karachi University. She has keen interest in heart diseases and worked on heritability of familial hypercholesterolemia in Pakistani population in her Ph.D research. She published 50 articles in National and International journals.