11^th International Conference on Human Genetics and Genetic Diseases November 05-06, 2021 Vancouver, Canada

Biography:

Sergey Suchkov was born in the City of Astrakhan, Russia, in a family of dynasty medical doctors. In 1980, graduated from Astrakhan State Medical University and was awarded with MD. In 1985, Suchkov maintained his PhD as a PhD student of the I.M. Sechenov Moscow Medical Academy and Institute of Medical Enzymology. In 2001, Suchkov maintained his Doctor Degree at the National Institute of Immunology, Russia.

From 1989 through 1995, Dr Suchkov was being a Head of the Lab of Clinical Immunology, Helmholtz Eye Research Institute in Moscow. From 1995 through 2004 - a Chair of the Dept for Clinical Immunology, Moscow Clinical Research Institute (MONIKI). In 1993-1996, Dr Suchkov was a Secretary-in-Chief of the Editorial Board, Biomedical Science, an international journal published jointly by the USSR Academy of Sciences and the Royal Society of Chemistry, UK

Abstract:

A new systems approach to diseased states and wellness result in a new branch in the healthcare services, namely, personalized and precision medicine (PPM). To achieve the implementation of PPM concept, it is necessary to create a fundamentally new strategy based upon the recognition of biomarkers and thus the targets to secure the grand future of drug design and drug discovery.

Each decision-maker values the impact of their decision to use PPM on their own budget and well-being, which may not necessarily be optimal for society as a whole. It would be extremely useful to integrate data harvesting from different databanks for applications such as prediction and personalization of further treatment to thus provide more tailored measures for the patients resulting in improved patient outcomes, reduced adverse events, and more cost effective use of the latest health care resources including diagnostic (companion ones), preventive and therapeutic (targeted molecular and cellular) etc.

PPM, genomics and AI are those of the most rapidly emerging areas of biomedical research and the most promising technologies for improving health care and health outcomes. Examples include the use of AI for improved DNA sequencing and SNP analysis to target specific cell and tissue types, biosensors for specific molecules in vivo, and point-of-care molecular diagnostic devices enabled by genomics- and AI tools.

The enormous development of genomics research has raised great expectations concerning its impact on PPM aiming to customize medical practice with a focus on the individual, based on the use of genetic tests, identification of genomic biomarkers, and development of targeted drugs. Personal genomics is an area of genomics focusing specifically on the sequencing and analysis of one person’s genome, and then giving them their genomic information.

Biography:

Professor, University Claude Bernard (lyon1) France.Third year PhD Student (Molecular genetics), University Claude Bernard (lyon1) France,

(With Saudi Government Scholarship).

 Demonstrator at Jazan University department of genetics with future job (Professor of university). Master   degree of Research (MRes) in Biology health (Genetics, Physiology, pathologies) 2019. Highly organized and       efficient ability to work Independently or as part of team proven leadership, and eager to learn new things

Abstract:

Most cellular transcriptional activity is carried out by the RNA polymerase I (RNAP1), which transcribe ribosomal DNA (rDNA) into ribosomal RNA (rRNA) needed in the ribosome biogenesis. During DNA Repair of UV-lesions, rDNA/RNAP1 are both reorganized within the nucleolus, namely, they migrate at the periphery of the nucleolus during DNA repair reactions and come back within the nucleolus after DNA repair completion. The proteins and exact mechanism behind these movements remain not understood. We employed various cellular and molecular biology methods, combined with confocal microscope procedures on knockdown Survival Motor Neurons (SMN) cells, and on cells of patients affected by Spinal Muscular Atrophy (SMA), to investigate whether SMN may play a role in the nucleolar reorganization during DNA repair

Biography:

Department of Biology,Faculty of Basic Sciences,Shahrekord Branch,Islamic Azad University,Shahrekord,Iran

 

Abstract:

Type 1 diabetes usually begins in childhood or adolescence but may start at any age and comprises only 5 to 10 percent of all diabetes cases, however its prevalence continues to increase worldwide.Type 1 diabetes (T1D) is defined as an autoimmune disorder caused by T-cell mediated degradation of the insulin-producing pancreas and begins with a combination of genetic and environmental factors.Many signaling pathways, including IL-17, are involved in autoimmune diseases. Interleukin-17 (IL-17) is a 32-kDa hemodymeric  cytokine and is distributed everywhere but is apparently more abundant in the spleen and kidney.In addition to its invasion by HSV T lymphocytes, this cytokine secretes IL-6, IL-8, PGE2, MCP-1, G-CSF by fibroblast cells, keratinocytes, epithelial and endothelial cells.IL-17 has been shown to be involved in the pathogenesis of hypertension, atherosclerosis and lipid differentiation, and the role of IL-17 in glucose metabolism has been elucidated and six members of its family (IL-17A-F) have been identified.IL-17A is largely produced by activated memory T lymphocytes but stimulates innate immunity and host defense.IL-17A and IL-17F partially mobilize neutrophils through induction of CXC granulopoiesis and chemotaxin as well as enhancing local survival.Evidence suggests that IL-17 family members play an active role in cancer, inflammatory and autoimmune diseases.The aim of this study was to select genes involved in IL17 pathway based on expression profiles obtained from microbial studies from GEO database and evaluate their expression changes in order to introduce biomarkers for type I diabetes mellitus.

 

Biography:

I am a final year Ph.D. student at Kansas State University in the deparatment of Biochemistry and Molecular Biophysics. As a senior graduate student, I am accountable for developing, executing, and troubleshooting molecular and biochemical research experiments in the laboratory of my thesis advisor, Dr. Erika Geisbrecht. Our lab broadly seeks to understand cell and molecular level events required for the development and maintenance of healthy muscle tissue. I have published 5 reasearch articles in a peer- reviewed journals

Abstract:

Cell growth and/or proliferation may require the reprogramming of metabolic pathways, whereby a switch from oxidative to glycolytic metabolism diverts glycolytic intermediates towards anabolic pathways. Herein, we identify a novel role for TRIM32 in the maintenance of glycolytic flux mediated by biochemical interactions with the glycolytic enzymes Aldolase and Phosphoglycerate mutase. Loss of Drosophila TRIM32, encoded by thin (tn), shows reduced levels of glycolytic intermediates and amino acids. This altered metabolic profile correlates with a reduction in the size of glycolytic larval muscle and brain tissue. Consistent with a role for metabolic intermediates in glycolysis-driven biomass production, dietary amino acid supplementation in tn mutants improves muscle mass. Remarkably, TRIM32 is also required for ectopic growth - loss of TRIM32 in a wing disc-associated tumor model reduces glycolytic metabolism and restricts growth. Overall, our results reveal a novel role for TRIM32 for controlling glycolysis in the context of both normal development and tumor growth

Biography:

Dr. Khushnooda Ramzan, PhD in molecular biology works as Scientist in the Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh. She got her PhD from the Punjab University; during which she discovered new genes for hearing loss. After her PhD, Dr. Ramzan joined the department of genetics at KFSHRC, and continued working mainly on the genetics of deafness in the Saudi population. Her research focus was to investigate the role of different genes in hearing loss within the Saudi families. So far, she has characterized and documented genetic basis of deafness in families of Saudi Arabian origin; their incidence and distribution were also documented

Abstract:

Hearing loss is one of the most common sensory disorders in humans with both genetic and environmental etiologies. Genetic causes of hearing loss are extremely heterogeneous; more than 100 genomic loci for hearing loss have been mapped so far. Usher syndrome (USH) is the most common cause of combined blindness and deafness inherited in an autosomal recessive mode. Molecular diagnosis is of great significance in revealing the molecular pathogenesis and aiding the clinical diagnosis of this disease. Our study aims to comprehensively delineate the genetic basis of hearing loss in the individuals of Saudi Arabian origin.

The identification of the causative gene in affected families with hearing loss is difficult due to extreme genetic heterogeneity and lack of phenotypic variability. Consanguineous families are a powerful resource for genetic linkage studies/homozygosity mapping for recessively inherited hearing impairment. Homozygosity mapping, linkage analysis and next generation sequencing Deafness Gene-panel and Whole Exome sequencing were conducted. Using the combined approaches, so far mutations in 32 different deafness genes have been identified in 300 familial/sporadic cases, including novel variants in known HL genes and novel genes