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Scientific program

Oct 22-23, 2021    Zurich, Switzerland
1st International Conference on

International Conference on Human Genetics and Genetics Disorder

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Keynote Forum

Fatemeh Babaie

Fatemeh Babaie

Semnan University of Cellular and Molecular Biology Iran

Title: 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 biomedicine 2019, Participated in the 8th International  Conference on Women’s Health, Tehran, Iran

Speakers

Title: Human Genetics

Title: Novel approaches to explore in future

Fatemeh Babaie

Fatemeh Babaie

Semnan University of Cellular and Molecular Biology Iran

Title: 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 biomedicine 2019, Participated in the 8th International  Conference on Women’s Health, Tehran, Iran

Fatemeh Babaie

Fatemeh Babaie

Semnan University of Cellular and Molecular Biology Iran

Title: 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 biomedicine 2019, Participated in the 8th International  Conference on Women’s Health, Tehran, Iran

Speakers

Mette Pedersen

Mette Pedersen

University of Copenhagen, Faculty of Health and Medical Sciences, Blegdamsvej 3B, 2200, Copenhagen Denmark

Title: Genetics and voice production in childhood and adolescence e 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:

Summary of qualifications She is a President and Chair at the Seventh World Voice Consortium Congress on 2017, Copenhagen, Denmark. 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.

Useful Links

News

UW Medicine joins new NIH effort on rare genetic conditions

2021-07-16 - 2021-07

UW Medicine in Seattle will be part of a new National Institutes of Health effort to deploy innovative methods and approaches to find the genetic causes of unsolved Mendelian conditions. These conditions are suspected of being the result of changes or mutation in genes or other genomic differences – that have not yet been discovered. More than 400 million people worldwide have been diagnosed with one of about 7,000 Mendelian conditions. Just a few examples of Mendelian conditions in which the genetic basis has already been determined are cystic fibrosis, sickle cell anemia, hemophilia, muscular dystrophy, color blindness, and Tay Sachs disease. But there are many more disorders for which answering questions for patients, families, and their clinicians still requires discovery of the underlying gene.

WHO issues new ethics recommendations for human genome editing

2021-07-13 - 2021-07

The World Health Organization (WHO) has released two new companion reports that provide the first global recommendations for using human genome editing as a tool for public health. Currently, countries can choose their own laws and regulations about human genome-editing, and these reports aim to give guidance to these policies. Human Genome Editing: a framework for governance and Human Genome Editing: recommendations emphasise safety, effectiveness and ethics. “Human genome editing has the potential to advance our ability to treat and cure disease, but the full impact will only be realised if we deploy it for the benefit of all people, instead of fuelling more health inequity between and within countries,” says Tedros Adhanom Ghebreyesus, WHO Director-General. The reports followed a global consultation on the use of genome editing techniques in humans, and included a diverse participant pool of scientists, researchers, patients, and indigenous peoples. The full consultation took two years to complete. The benefits of human genome editing are vast; they may provide treatments for genetic disease, and have great potential in cancer treatment.

COVID-19: Geneticists criticize poor sequencing efforts in US

2021-07-21 - 2021-07

Genetic sequencing of SARS-CoV-2, the virus that causes COVID-19, is vital to track the spread of existing variants and quickly identify new variants of concern. Writing in the journal PLOS Genetics, scientists say the United States has failed to contribute adequately to these global surveillance efforts. They blame poor central coordination and, until recently, a lack of funding. “Know your enemy” has been the mantra of generals at least since the 5th century BC when the Chinese military strategist Sun Tzu coined the phrase in The Art of War. The principle is just as important when your enemy is a rapidly evolving virus that has claimed the lives of more than 4 million people worldwide. Traditionally, surveillance of infectious diseases by public bodies, such as the World Health Organization (WHO) and the Centers for Disease Control and Prevention (CDC), has focused on data such as case numbers, hospitalizations, and deaths.

An ancestral recombination graph of human, Neanderthal, and Denisovan genomes

2021-07-16 - 2021-07

Much of the current genetic variation within humans predates the split, estimated at 520 to 630 thousand years (ka) ago (1), between the populations that would become modern humans and Neanderthals. The shared genetic variation present in our common ancestral population is still largely present among humans today and was present in Neanderthals up until the time of their extinction. This phenomenon, which is known as incomplete lineage sorting (ILS), means that any particular human will share many alleles with a Neanderthal that are not shared with some other humans. Therefore, humans often share genetic variation with Neanderthals not by admixture but rather by shared inheritance from a population ancestral to us both. Because of this, any effort to map ancestry from archaic hominins in human genomes must disentangle admixture from ILS. Furthermore, a technique able to identify both admixture and ILS could produce a catalog of uniquely human genomic regions that is free of both and thereby shed light on the evolutionary processes that have been important in our origin as a unique species. Ancestral recombination graph (ARG) inference (2) is a powerful starting point for such an analysis. An ARG can be conceptualized as a series of trees, mapped to individual sites, over phased haplotypes (chromosomes) in a panel of genomes. Ancestral recombination events, or sites at which chromosome segments with different histories were joined together by historical recombination, form boundaries between trees. Each ancestral recombination event manifests as a clade of haplotypes, all of which descend from the first ancestral haplotype to have it, moving from one position in the tree upstream of the event to a new position in the downstream tree (3). ARGs are complete descriptions of phylogenomic datasets and present for recombining genomes what single trees present for nonrecombining genomes, i.e., a complete description of their genetic relationships. As prior techniques for ancestry mapping can be thought of as summaries of the ARG, higher resolution ancestry maps could be produced if the ARG were known. In addition, the ARG can be used to estimate the time to most recent common ancestor (TMRCA) between admixed and admixer haplotypes, providing additional information about historical admixture between humans and archaic hominins.

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