World Congress on Human Genetics November 07- 08, 2016 Barcelona, Spain

Biography:

Vladislav S Baranov was graduated from the State Medical Institute in Lvov, Ukraine and received his PhD degree in Saint-Petersburg, Russia in 1976. He is the Chief of laboratory for prenatal diagnosis of inherited and inborn diseases at the Ott’s Institute of Obstetrics, Gynecology & Reproduction. He is interested in genetic and cytogenetic aspects of early development, gene testing of inherited predisposition to common disorders, personalized predictive medicine and gene therapy. He is also a Professor, Corresponding Member of Russian Academy of Sciences, Honorary Scientist, Chief City Expert in Medical Genetics, author and co-author of 29 books and over 400 scientific papers.

Abstract:

Endometriosis (EM) and Leiomyoma (UL) are two most frequent benign tumors of monoclonal origin affecting about 30% of all women in their reproductive age. Though known for centuries many aspects of pathogenesis and pathophysiology of EM and UL remain unknown so far. Modern molecular technologies have made tremendous impact in our understanding of both disorders. The report gives comparative analysis of molecular mechanisms of EM and UL including recent data on their origin, progression and peculiarities of manifestation. Similarities and differences of molecular mechanisms underlying their early stages are enlighten from position of systems genetics with particular emphasis on genetic specificity, gene interactions and epigenetic mechanisms regulating normal and pathologic development. Comparison of epigenetic landscapes of EM andUL progression underlying peculiarities and unique personal clinical manifestations are outlined. The origin of both tumors
as outgrowths of the relevant stem cells with mesenchymal commitment lineage migrating from endometrium/myometrium junctional zone of the uterus is hypothesized. Differences in mechanisms of stem cell origin and tumor progression resulting from epigenetic landscape peculiarities as basic reason of many clinical forms as well as unique individual manifestation of EM and UL are suggested Proofs advocating for syntropy of molecular mechanisms underlying both disorders are presented. Perspectives of the further studies of EM and UL from the platform of systems genetic with assistance of new molecular technologies and bioinformatic analysis are briefly discussed.

Biography:

Andrew Ruszkiewicz was the Fellow of the Royal College of Pathologists of Australasia (RCPA) in 1998. He is a Senior Consultant Pathologist at SA Pathology, Head of Gastroenterology Research Laboratory, Associate Professor, School of Medicine, University of Adelaide and School of Pharmacy and Medical Science, University of South Australia. He has a special interest in the gastroenterology pathology, particularly in the precursor lesions and malignancies of the colorectum, esophagus and pancreas. He is the Co-Founder of Colorectal Cancer Tissue Bank which holds samples of colorectal cancers, polyps, normal tissues and blood from patients with colorectal malignancies. He is also an Examiner for the RCPA.

Abstract:

Until recently, colorectal cancer (CRC) has been viewed as relatively homogeneous disease despite recognition of various histological types of this disease. Over the last 25 years it has become clear that CRC evolves through multiple molecular pathways which have different precursors. About 30% of all CRCs develop through a serrated pathway in reference to crypt morphology in their precursor polyps termed sessile serrated adenomas/polyps (SSA/P). Distinguishing between early SSA/P and other colorectal polyps including innocuous hyperplastic polyps (HPs) is challenging and may not be possible in routine practice. We performed gene expression profiling (GEP) of serrated colorectal polyps and conventional adenomas and shown a significantly (p<0.05) higher expression of Cathepsin E in sessile serrated adenomas as compared to hyperplastic polyp and tubular adenomas. Trefoil Factor 1 showed the same trend of expression for sessile serrated adenomas as compared to
hyperplastic polyps and was significantly higher in both polyps compared to tubular adenomas. More recently, our study conducted between hyperplastic polyps and SSA/P using GEP with qRT-PCR and immunohistochemistry validation identified Claudin 1 (CLDN1) as the most statistically significant differentially expressed gene in BRAF V600E mutant polyps regardless of histological subtype of serrated polyp type (p<0.0005). Our results demonstrated an apparent heterogeneity on the molecular level within the HPs group and suggest that HPs with somatic BRAF V600E mutation and up-regulated expression of CLDN1 are closely related to SSA/P and may in fact represent a continuous spectrum of the same neoplastic process within the serrated pathway of colorectal carcinogenesis.

Biography:

Xuezhong Liu an internationally renowned Surgeon-Scientist is the Leonard M. Miller Professor and Vice Chair of Otolaryngology. He has had a career long interest in genetic deafness and has made many significant contributions. He is the author of more than 200 scientific papers in top journals. His exemplary translational research on hereditary hearing loss from basic sciences to clinical application (bench to bedside) for the past three years, ranking in the top 1 percent of NIH-funded physician-scientists in the auditory field.

Abstract:

We have established the Miami Ontogenetic Program combining the research and the clinical component. The program has provided a unique platform to carry out translational research on delivering genetic services to deafness patient care. The extreme heterogeneity of non-syndromic sensorineural hearing loss (NSHL) makes serial sequencing approaches unfavorable in terms of efficiency and cost. However, the discovery that genes at only 2-3 loci account for a major component of human deafness suggested that the sequential screening of DNA samples from probands in multiplex sibships for mutations would be a cost effective strategy. We aim to identify the genetic cause of NSHL through an integrated paradigm combining microarray, copy number variations (CNVs) analysis, whole genome sequencing (WES) and a hearing-centric database. We are using a DNA microarray panel (Miami-CapitalBio) as the initial screening to simultaneously detect the most common deafness-causative mutations from four genes. We then perform a custom capture/next-generation sequencing gene panel (MiamiOtoGenes) composed of 180 known deafness genes (Agilent SureSelect DNA Design). Patients for whom the two panels do not provide a meaningful result, WES is performed to achieve a comprehensive interrogation of the full spectrum of variants to detect single-nucleotide variants (SNVs), insertion/deletions (Indels) and CNVs. If variants are not found in the genes included on Miami-CapitalBio and MiamiOtoGenes, WES should be considered in small multiplex families. The multidisciplinary team approach is an effective way to bring the sequencing data to clinical practice for the clinical diagnosis and management of deaf and hard-of-hearing families.

Biography:

Alexei Fedorov is an Associate Professor in the Department of Medicine and Vice Director of Bioinformatics and Proteomics/Genomics Program at the University
of Toledo, Ohio, USA. He has received his MS degree in Physics from Moscow State University, Russia and PhD degree in Molecular Genetics from the Institute of Molecular Genetics, Russian Academy of Science, Moscow. He has developed his programming skills being a Postdoctoral fellow in Walter Gilbert lab at Harvard. He has over 100 publications including 50 manuscripts as a principal author.

Abstract:

Next Generation Sequencing revealed an intricate distribution of millions of genetic variants among different human populations. Both rare and frequent genetic variants may bring to light important information about history, evolution and health status of humans. First, we present a novel computational method for detecting identical-by-descent (IBD) chromosomal segments between sequenced genomes. It utilizes the distribution patterns of very rare genetic variants (vrGVs), which have minor allele frequencies less than 0.2%. Contrary to the existing probabilistic approaches our method is rather deterministic, because it considers a group of very rare events which cannot happen together only by chance. This method has been applied for exhaustive computational search of shared IBD segments among 1092 sequenced individuals from 14 populations. It demonstrated that clusters of vrGVs are unique and powerful markers of genetic relatedness, that uncover IBD chromosomal segments between and within populations, irrespective of whether divergence was recent or occurred hundreds-to-thousands of years ago. We found that several IBD segments are shared by practically any possible pair of individuals belonging to the same population. Moreover, shared short IBD segments (median size 183 Kb) were found in 10% of inter-continental human pairs, each comprising of a person from Sub-Saharan Africa and a person from Southern Europe. The shortest shared IBD segments (median size 54 Kb) were found in 0.42% of inter-continental pairs composed of individuals from Chinese/Japanese populations and Africans from Kenya and Nigeria. Knowledge of inheritance of IBD segments is important in clinical case-control and cohort studies, since unknown distant familial relationships could compromise interpretation of collected data. Clusters of vrGVs should be useful markers for familial relationship and common multifactorial disorders. Lastly, we present whole-genome investigation of human most frequent genetic variants and their arrangement in common haplotypes in various geographical regions. Three prominent types of common haplotypes “Yin”, Yang” and “Mosaic” are described as well as their continent distribution. They represent three principal ancient lineages of mankind.

Biography:

Michael Philip Nova is the Chief Innovation Officer and Founding Team Member of Pathway Genomics. USA. He is the inventor of all wellness genetic tests and also the Pathway-IBM/Watson mobile application: OME. His scientific career began at the Salk Institute with Nobel Laureate Roger Guillemin, researching the genetics of growth factors. He was the Founder/CEO of wireless drug discovery company, Discovery Partners Inc. He is an IBM and Metagenics Advisory Board Member; the 2005 World Economic Forum (WEF) Technology Pioneer Award Winner and the Physician of record on the first person to have their entire genome sequenced by Illumina (2009). He has 35 issued patents and likes to surf in Indonesia.

Abstract:

Type-2 diabetes (T2D) and obesity are complex disorders that constitute major public health problems. The evidence for familial aggregation of both T2D and obesity is substantial. To date, more than 150 genetic loci are associated with the development of monogenic, syndromic or multifactorial forms of T2D or obesity; many within lipid and carbohydrate metabolism pathways. SNPs located in or near FTO, MC4R, MC3R, POMC, LEP, LEPR, PLIN1, APOA5, LIPC, FABP2, INSIG2, IRS1, GIPR, ADBR2, ADRB3, UCP1, RETN, ADIPOQ, IL6, PPARG, TCF7L2 and CLOCK, among others, are implicated in both diabetes and obesity gene networks, pleomorphic with nutritional and metabolic traits. A personalized nutritional approach, based not only on phenotypic traits but also on genetic make-up, may help to control body weight and obesity. Recent advances in nutrigenetics, bioinformatics and genome-wide association metabolomics studies are set to unleash a revolution in personalized nutrition. In this symposium, we discuss the evidence concerning the genetic contribution to individual risk of T2D and obesity and explore the potential role of nutritional and environmental mechanisms. We also explain how genetics, epigenetics and environment are likely to interact to define the individual risk of disease; through analyzing the results of a number of recent human clinical trial studies that use genetics to personalize treatment plans for obesity, metabolic syndrome and diabetes management. The aim of these studies was to determine the impact of a targeted, precision treatment program on reducing a patient’s future risk of metabolic syndrome (MetS).

Biography:

Abstract:

Understanding the molecular genetics of hereditary eye disorders is essential not only for early diagnosis but also to arrest the progression of the disease. North Indian population encompassing Eastern Uttar Pradesh and Western Bihar has been untouched in terms of understanding the genetics of eye disorders. We have recruited several families afflicted with various ocular diseases like X-linked idiopathic congenital nystagmus (XLICN), X-linked retinoschisis (XLR), macular dystrophy etc. We have identified a novel missense mutation c.556A>G (p.M186V) in the FRMD7. A recurrent missense mutation c.242T>A (p.I81N) in the gene Retinoschisin (RS1) was also identified in XLR. The c.242T>A mutation leads to an Ile81Asn substitution in the Discoidin domain of the RS1protein which is likely to interfere with the function of the RS1 protein. Detailed in silico analysis also supports the pathogenecity of these variants. We have also carried out WES (whole exome sequencing) in families with macular dystrophy and identified causal mutations. Collectively, this study will help us in identification of rare and novel genetic variants in our population that could be used as diagnostic genetic markers. This will also improve our understanding towards molecular mechanism and genetic basis of various eye disorders. Variants identified in this manner will enable us predict the predisposition towards a genetic ocular disorder and will facilitate early diagnosis and better management of such diseases.

Biography:

Tatjana Skaric-Juric is a Research Professor at the Institute for Anthropological Research, Croatia and an Associate Professor of Anthropology at University of Zagreb where she participates in several undergraduate and postgraduate programs. She has participated in 15 Croatian and international scientific projects (PI in 3 projects) and published over 50 papers. Her research interests covers: Biological anthropology, aging, growth and development, quantitative and population genetics, genetic epidemiology, public and minority health.

Abstract:

Our recent extensive research of the Roma (Gypsy) population in Croatia pointed to a significant load of risk factors for the different diseases which accompany economic transition, indicating a rising prevalence of cardiovascular diseases (CVD) in the future. This may lead to the increase of appropriate drugs consumption in this population. The active transport of numerous medications for CVD treatment is mediated by OATP1B1 protein encoded by SLCO1B1 gene. This gene has numerous variants which can cause adverse drug response and some of them significantly differentiate among populations. The Roma are transnational minority whose gene pool results from their Indian ancestry, subsequent admixture with surrounding populations and their socio-cultural isolation. Their reactions to different drugs are poorly documented. Therefore we analyzed 8 SNP loci within SLCO1B1 gene in 434 Roma individuals from three socio-culturally different Roma groups (Balkan Roma, Vlax Roma from Baranja and Medjimurje). All but one locus, rs4149056, were monomorphic. The polymorphic locus shows significantly different genotype distributions among the investigated populations (p<0.01). Genotype CC, responsible for the adverse response to several drugs, was present only in the population of Baranja, where frequency of C allele was the highest (16.8%). Comparison of allele frequencies of here investigated Roma populations with major population groups from 1000 genomes database did not reveal any significant difference compared to European populations but indicated difference between the Roma and South Asian populations. The results, obtained for rs4149056, indicate that the investigated Roma population shows sub-population specificity within the bounds of European populations.

Biography:

Abstract:

From rare and unusual conformations such as stem, loop, stem-and-loop and rigid rod of native plant mitochondrial DNA (mtDNA) and reproduction of such structures with space-filling model of DNA a concept of foldback intercoil (FBI) DNA was developed. Foldback bending at one point of an unwound parallel duplex DNA can lead the flanking antiparallel double helix B-DNA intertwine in each other’s major groove to form an intercoil. When a repeat sequence encounters its partner in the intercoil four-stranded base pairing can form and lead to heteroduplexes formation by base flipping. As tested by the space filling model based upon experimental documents in the literature, FBI DNA is shown to perform DNA-DNA transactions of short (about 7 bp) repeats; namely, α-deletion by direct repeats, Ω site-specific inversion by inverted repeats, FBI tip insertion in site-specific insertion and non-homologous end joining and gap filling (EHEJ-GF) in transposition. Rigid rod DNA can be interpreted in the context of the FBI DNA as reflection of cellular processes such as DNA replication and transcription, enhancer function and heteroduplexes formation by long repeats. DNA rearrangement in the genome is known to be one of the major causes of human genetic disorders and diseases. Massive accumulation of genome sequence data and comparative genomics reveal at the breakpoints not a single nucleotide but about 7 bp block of an overlapping breakpoint, which manifests the FBI DNA mechanism at work. Concerted presentations of such supporting evidences in the “World Congress of Human Genetics” would mark an epoch of “Genomic Revolution”.

Biography:

Abstract:

In a High Medieval age cemetery, dated from the XIII-XIV century (Uceda, Guadalajara, Central Spain), two bodies were found, buried in a curious position. One of the bodies, an adult, had close to its abdominal area a small number of little bones. It was not clear if it could have been a pregnant woman or, otherwise, two separated burials, at different times. Anthropological experts confirmed that the second individual should be a fetus, being absolutely impossible to determine the sex. Furthermore, the adult was appointed as a woman. Concerning the condition of the samples, the adult one was preserved, obeying to the authenticity criteria to select evidences for a critical DNA analysis. But the samples belonging to the second individual were very delicate and fragile, complicating the sampling work. A genetic study will be carried out to find if there is any biological bond between the individuals, as well as, their biological sex. The analysis procedure had to be somewhat modified due to the sensitivity of the second individual samples. So far, our preliminary results reveal that, if both individuals are not linked by maternal kinship, they must be, at least, relatives by maternal side, since they share the same maternal lineage. Conclusions reached in the present study can help in mass disasters cases. In such situations, it is crucial to determine kinships between samples, despite their advanced state of degradation, which makes the improvement of this procedure a crucial point in forensic genetics.

Biography:

Abstract:

Aim: To demonstrate that pregnancy complications are associated with alterations in cardiovascular and cerebrovascular microRNA expression in maternal circulation. We focused on microRNAs playing a role in pathogenesis of dyslipidemia, hypertension, vascular inflammation, insulin resistance and diabetes, atherosclerosis, angiogenesis, coronary artery disease, myocardial infarction and heart failure.

Methods: Gene expression of 29 microRNAs was compared between groups (39 GH, 68 PE, 33 IUGR and 20 normal pregnancies) and correlated with the severity of the disease with respect to clinical signs, delivery date and Doppler US parameters.

Results: The down-regulation of miR-100-5p, miR-125b-5p and miR-199a-5p was a common phenomenon shared between GH, PE and IUGR. IUGR induced down-regulation of miR-17-5p, miR-146a-5p, miR-221-3p and miR-574-3p. Irrespective of the severity of the disease, PE was associated with the dysregulation of miR-100-5p and miR-125b-5p and IUGR with dysregulation of miR-199a-5p. PE terminated before 34 weeks was associated with down-regulation of miR-146a-5p, miR- 199a-5p and miR-221-3p. Weak negative correlation between miR-146a-5p and miR-221-3p expression and the PI in umbilical artery was found. Additional microRNAs (miR-103a-3p, miR-126-3p, miR-195-5p and miR-499a-5p) showed a trend to down-regulation.

Conclusion: MicroRNAs playing a role in pathogenesis of dyslipidemia (miR-146a-5p), vascular inflammation (miR-126- 3p, miR-146a-5p, miR-195-5p, miR-221-3p), insulin resistance and diabetes (miR-126-3p), atherosclerosis (miR-126-3p), angiogenesis (miR-17-5p, miR-100-5p, miR-221-3p), coronary artery disease (miR-17-5p, miR-126-3p, miR-195-5p, miR- 221-3p), myocardial infarction and heart failure (miR-17-5p, miR-100-5p, miR-103-3p, miR-125b-5p, miR-195-5p, miR-199a- 5p, miR-499a-5p, miR-574-3p) were also dysregulated in maternal whole peripheral blood during the onset of pregnancy complications such as gestational hypertension, preeclampsia or IUGR.

Biography:

Kamran Mansouri has completed his PhD in Molecular Medicine from Tehran University of Medical Sciences, Iran. He is the Head of Angiogenesis Department of Medical Biology Research Center. He has published more than 34 papers in reputed journals.

Abstract:

Several studies have shown that testis-specific gene antigen (TSGA10) could be considered as a cancer testis antigen (CTA), except for one study which has identified it as a tumor suppressor gene. In order to exert its function, TSGA10 interacts closely with hypoxia inducible factor (HIF-1α) and since this interaction is still not completely defined, the exact role of TSGA10 in angiogenesis and invasion is also under question. The current study was conducted to investigate the function of TSGA10 gene and evaluate its potential effects on tumor angiogenesis and invasion. To do so, TSGA10 vector was designed for a stable transfection in HeLa cells and then clonal selection was applied. The efficiency of transfection and the role of TSGA10 in above mentioned targets were evaluated by real-time PCR, western blot, zymography and ELISA tests in both normoxia and hypoxia. Invasion, migration and angiogenesis were assessed. Three-dimensional model of TSGA10 protein was accurately built in which TSGA10 docked to 2 domains of HIF-1α. Increased expression of TSGA10 correlated with decreased HIF-1α transcriptional activity and inhibited angiogenesis and HeLa cells invasion in normoxia as well as hypoxia. Docking analysis indicated that binding affinity of TSGA10 with TAD-C (CBP) domain of HIF-1α would be stronger than that with PAS-B domain. Our findings showed that overexpression of TSGA10 would induce disruption of HIF-1α axis and exert potent inhibitory effects on tumor angiogenesis and metastasis. Therefore, TSGA10 could be considered as a potent therapeutic candidate, prognostic factor and a cancer management tool.

Biography:

Majid Zakeri has completed his DDS from Mashhad University of Medical Science, Iran and Fellowship in Aesthetic Dentistry from Universita degli Studi di Genova, Italy (2014). He is the Technical Director of Novin Dentistry Clinic affiliated to Red Crescent of Khorasan Razavi Province, Iran. He has invented dentistry mouth opener, nanopack dressing for oral surgery and nano silver stitch for oral operation. He is a peer Reviewer of the British Journal of Medicine and Medical Research and Member of International Federation of Inventors Associations (IFIA) Agent in Iran.

Abstract:

Background & Aim: It has been postulated that conventional suture materials such as silk may enhance bacterial biofilm growth causing delay in healing of surgical sites. Nano-silver particles with their anti-bacterial agent properties could be helpful. This study evaluates the role of nano-silver particles on the inflammatory process of gingival suture in comparison with usual silk suture in animal model.

Method & Materials: In this double-blind clinical random study, 12 female rabbits were selected. They had healthy teeth and no periodontal disease had been found by clinical and radiographic examinations. Our innovated nano-silk was prepared in sterile condition and under special circumstances with nano-silver particles. Two different density of Nano-silk (A and B) were prepared. A suture contained 60 ng of silver and B sutures included 120 ng of silver. Nano-silk sutures thread and conventional silk suture thread were sutured on the buccal surface of the gingiva of mandibular incisors. Histological changes on 4th and 7th day after suturing were evaluated to assess the inflammatory process.

Results: The histological results showed that the application of this new suture material may improve inflammation process and promote wound healing. We also observed a relatively marked difference between the two groups in the 4th and 7th day in the inflammatory cell components and edema. These two parameters are important factors in the wound inflammation process. Our results suggested that the density of nano-silver particles in nano-silk B causes less inflammatory response in comparison with nano-silk A and therefore a better scaffold for parenchymal and mesenchymal factors is made one week after surgery.

Conclusion: Silver particles due to their beneficial effects as antibacterial and wound healing accelerator in the periodontal surgeries could reduce inflammation and promote healing process. So nano-silver sutures could be helpful for and produce a more favorable healing when used in oral and maxillofacial surgery.

Biography:

E Sacide Caglayan has completed her PhD in Medical Genetics from Afyon Kocatepe University in 2010 and worked as a Visiting Scholar in Ruohola-Baker Lab, Institute of Stem Cell & Regenerative Medicine, University of Washington. Presently, she is working as an Assistant Professor in Ankara Yildirim Beyazit University, Faculty of Health Science, Department of Nutrition in Ankara, Turkey.

Abstract:

Dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) is a strong therapeutic target to ameliorate cognitive functions of Down Syndrome (DS). Genetic normalization of DYRK1A is sufficient to normalize early cortical developmental phenotypes in DS mouse models. Gyrencephalic human neocortical development is more complex than that in lissencephalic mice, hence cerebral organoids (COs) can be used to model early neurodevelopmental defects of DS. Single copy DYRK1A knockout COs (scDYRK1AKO-COs) can be generated from manipulated DS derived (DS-) induced pluripotent stem cells (iPSCs) and genetic normalization of DYRK1A is expected to result in corrected neurodevelopmental phenotypes that can be reminiscent of normal COs. DYRK1A knock-in (DYRK1AKI) COs can be derived after genetic manipulations of normal iPSCs and would be valuable to evaluate impaired neocortical development as can be seen in DS-COs. DYRK1A mutations cause severe human primary microcephaly, hence dose optimization studies of DYRK1A inhibitors will be critical for prenatal therapeutic applications in DS. Several doses of DYRK1A inhibitors can be tested in the neurodevelopment process of DS-COs and DS-scDYRK1AKO-COs would be used as optimum models for evaluating phenotypic ameliorations. Overdose drug exposure in DS-COs can be explained by similar defects present in DS-baDYRK1AKO-COs and DYRK1AKO-COs. There are several limitations in the current CO technology, which can be reduced by the generation of vascularized brain-like organoids giving opportunities to mimic late-stage corticogenesis and complete hippocampal development. In the future, improved DS-DYRK1AKO-COs can be efficient in studies that aim to generate efficiently transplantable and implantable neurons for tissue regeneration alternatives in DS individuals.

Biography:

Chee Kai Chan has completed his PhD from the Australian National University, Canberra and his Postdoctoral studies from Johns Hopkins University School of Medicine, Baltimore. He has spent 12 years at the Department of Genetics at La Trobe University, Melbourne, Australia. Presently he is the Co-Director of Genetics at the School of Medicine at the Nazarbayev University, Astana. He has published more than 25 papers in reputed journals and has been serving as an Editorial Board Member of a number of international journals.

Abstract:

Data from the WHO shows that in 2014, there are around 9.6 million people in the world diagnosed with tuberculosis (TB). Almost 95% of those TB related deaths occur in developing countries (WHO, 2015). TB remains an important health challenge and a significant economic burden for Kazakhstan and in Central Asia. The bacteria Mycobacterium tuberculosis is uniquely adapted to evade the host immune system to eventually establish infection in the host. Recent findings show a number of immunological related processes such as macrophage activation and recruitment and host M. tuberculosis defense are impacted by a variety of genes of the human host. These genes include those that play a role in host immune factors, those that regulate oxidative immune response, inflammatory response and vitamin D metabolism. These genes have been found to contribute to the susceptibility of the host to persistent TB infection. We are interested in the genetic variation of genes affecting immunological responses towards tuberculosis infection and their association with infection in different ethnic groups in Kazakhstan and Central Asia. We have genotyped 60 Kazakhs with and without TB, specifically looking at 10 SNPs belonging to the following genes DHCR7, CYP2R1, GC-1, CYP24A1, CYP27A1, CYP27B1, and the VDR. These genes are involved in the pathways of vitamin D metabolism playing a number of different roles including synthesis, activation, delivery and binding of the activated vitamin. Our preliminary results indicate association of these SNPs with TB susceptibility and we are presently developing strategies for a genetic based supplement intervention.

Biography:

Frenkel Guisado Bourzac is an Auxiliary Professor (equivalent to Associate Professor, USA) since 2015 and Assistant Professor since 2007 at Faculty of Natural and Exact Sciences, University of Oriente with more than 12 years of teaching experience. His research is focused at biochemistry and molecular biology, ecotoxicology, enzymology, physiology and sport sciences. He has received his Master of Science degree from UCCFD and PhD is in progress. He has published more than 11 papers in reputed journals with 19 international meetings and congresses participations where others 17 research reports have been published in CD-ROM memories and other scientific journals.

Abstract:

Speed is limited morphologically and physiologically by different factors. Among others, human dimensions and osteomuscular ratios determine speed performance at biomechanical level. The number and type of contractile fibers, favoring anaerobic or aerobic energy supply, provide another restriction for muscle power. Even all of them could be modified under certain conditions in a limited rate through exercise training; there are always restrictions by ethnic variations due to genetic heritage of such populations. Finally, molecular storage capacity and kinetic for each pathway is at first line restraining real performance instead of any other improvement at other levels. Records from race constitute a first approach for integrated and non-integrated metabolic system for power supply at muscle fibers. Without drugs influence, they represent the best net effort from the muscular and metabolic machinery of those individuals for different distances. A mathematical modeling was developed for ranges analysis for best performance at different energetic supply rates for establishing tendencies and limits in power. Equations during heterochronism phase reveal speed increase of up to a=4.66 m/s2 (R²=0.9866) until reach a maximum speed of 11.79 m/s for few seconds and a global equation for overall performance of V=-0.646 ln(t)+11.097 (R²=0.9104). Equations by intervals are provided with statistical analysis for each determination with the metabolic interpretation and biological relevance, giving benefits for health during recovering process and evaluation derived from both physical training and fitness and a potential tool for evaluating individual’s capacities and discovering of disruptions.

Biography:

Frenkel Guisado Bourzac is an Auxiliary Professor (equivalent to Associate Professor, USA) since 2015 and Assistant Professor since 2007 at Faculty of Natural and Exact Sciences, University of Oriente with more than 12 years of teaching experience. His research is focused at biochemistry and molecular biology, ecotoxicology, enzymology, physiology and sport sciences. He has received his Master of Science degree from UCCFD and PhD is in progress. He has published more than 11 papers in reputed journals with 19 international meetings and congresses participations where others 17 research reports have been published in CD-ROM memories and other scientific journals.

Abstract:

Speed is limited morphologically and physiologically by different factors. Among others, human dimensions and osteomuscular ratios determine speed performance at biomechanical level. The number and type of contractile fibers, favoring anaerobic or aerobic energy supply, provide another restriction for muscle power. Even all of them could be modified under certain conditions in a limited rate through exercise training; there are always restrictions by ethnic variations due to genetic heritage of such populations. Finally, molecular storage capacity and kinetic for each pathway is at first line restraining real performance instead of any other improvement at other levels. Records from race constitute a first approach for integrated and non-integrated metabolic system for power supply at muscle fibers. Without drugs influence, they represent the best net effort from the muscular and metabolic machinery of those individuals for different distances. A mathematical modeling was developed for ranges analysis for best performance at different energetic supply rates for establishing tendencies and limits in power. Equations during heterochronism phase reveal speed increase of up to a=4.66 m/s2 (R²=0.9866) until reach a maximum speed of 11.79 m/s for few seconds and a global equation for overall performance of V=-0.646 ln(t)+11.097 (R²=0.9104). Equations by intervals are provided with statistical analysis for each determination with the metabolic interpretation and biological relevance, giving benefits for health during recovering process and evaluation derived from both physical training and fitness and a potential tool for evaluating individual’s capacities and discovering of disruptions.

Biography:

Ramon Cacabelos is a Professor of Genomic Medicine at Camilo Jose Cela University, Spain and President of the EuroEspes Biomedical Research Center, Spain. He has received his MD from Oviedo University, PhD from Santiago University and DMSci in Psychiatry from Osaka University Medical School, Japan. After a decade at the Department of Psychiatry in Osaka, he returned to Spain and focused his research activity on the genomics and pharmacogenomics of neurodegenerative disorders. He has published over 600 papers and 24 books and is an Editor-in-Chief of the first World Guide for Drug Use and Pharmacogenomics and President of the World Association of Genomic Medicine.

Abstract:

Over 80% of patients with dementia older than 75 years of age exhibit a clear cerebrovascular component characterized by brain hemodynamic alterations, microinfarcts or ischemic signs. In Alzheimer’s disease (AD) patients, hypertension (>25%), overweightness (>40%) or obesity (>20%), diabetes (25%), hypercholesterolemia (>40%), hypertriglyceridemia (20%), cardiovascular disorders (>40%), atherosclerosis (>60%) and metabolic deficits (>20%) are common concomitant disorders contributing to premature neurodegeneration. In a cohort of 1803 patients with AD and 1096 controls, several SNPs in genes associated with lipid metabolism (APOE, APOB, APOC3, CETP, LPL), endothelial function and hypertension (NOS3, ACE, AGT), immune response and inflammation (IL1B, IL6, IL6R, TNFA) and thrombosis (F2, F5, MTHFR) were investigated. Although no significant differences were found between AD and controls, except in the case of APOE (p<0.0001), different SNPs in these genes exert a pathogenic influence in vulnerable patients. The therapeutic response to conventional drugs in AD is genotype-specific. The APOE-TOMM40 region is a reference locus in the pharmacogenetics of AD. APOE-4 carriers are the worst responders and APOE-3 carriers are the best responders to drugs. TOMM40 poly T-S/S carriers are the best responders, VL/VL and S/VL carriers are intermediate responders and L/L carriers are the worst responders to treatment. Patients harboring a large (L) number of poly T repeats in intron 6 of the TOMM40 gene (L/L or S/L genotypes) in haplotypes associated with APOE-4 are the worst responders to treatment. CYP2D6, CYP2C9, CYP2C19 and CYP3A4/5 variants also influence the pharmacogenetic outcome in AD. Polypharmacy in AD requires a personalized intervention to optimize therapeutics.

Biography:

Abstract:

Aim: To explore placental tissue expression profile of microRNAs involved in pathogenesis of cardiovascular and cerebrovascular diseases (miR-1, miR-16, miR-17, miR-20a, miR-20b, miR-21, miR-23a, miR-24, miR-26a, miR- 29a, miR-33a, miR-92a, miR- 100, miR-103, miR-122, miR-125b, miR-126, miR-130b, miR-133a, miR-143, miR-145, miR-146a, miR-155, miR-181a, miR- 195, miR-199a, miR-208, miR-210, miR-221, miR-342-3p, miR-499 and miR- 574-3p) in patients with gestational hypertension (n=35), preeclampsia (n=80) and fetal growth restriction (n=35) by real-time qRT-PCR.

Methods: Cardiovascular microRNA expression profile was correlated with the severity of the disease with respect to clinical signs, requirements for the delivery and Doppler ultrasound parameters.

Results: The down-regulation of 3/32 (miR-26a, miR-103, miR-145) microRNAs was found in preeclampsia before 34 weeks. Mir-1 was up-regulated in preeclamsia after 34 weeks. Mir-499 was dysregulated in the group of gestational hypertension and preeclampsia irrespective of the severity of the disease. Mir-499 up-regulation was detected in mild and severe forms of the disease occurring after 34 weeks. Additionally, the up-regulation of miR-499 was observed in IUGR patients. The difference within the IUGR group with normal and abnormal values of flow rate in the umbilical artery was observed for miR-1, abnormal blood flow velocity waveforms showed increased expression of miR-1.

Conclusion: MicroRNAs playing a role in pathogenesis of dyslipidemia (miR-1), insulin resistance and diabetes (miR-26a, miR-103), atherosclerosis (miR-145), coronary artery disease (miR-1, miR-145), myocardial infarction and heart failure (miR- 1, miR-26a and miR-499) were shown for the first time to be dysregulated in preeclampsia. Gestational hypertension and IUGR were associated with the dysregulation of miR-499, involved in pathogenesis of myocardial infarction and heart failure.

Biography:

E Sacide Caglayan has completed her PhD in Medical Genetics from Afyon Kocatepe University in 2010 and worked as a Visiting Scholar in Ruohola-Baker Lab, Institute of Stem Cell & Regenerative Medicine, University of Washington. She is currently working as an Assistant Professor in Ankara Yildirim Beyazit University, Faculty of Health Science, Department of Nutrition in Ankara, Turkey.

Abstract:

The complexity in multifactorial etiology makes it difficult to understand responsible genes contributing to obesity (OB) that is also associated with metabolism-related diseases (MrDs) including Type II Diabetes (T2D), Hypertension (Ht) and Hypercholesterolemia (Hch). Herein, we performed comprehensive pedigree analyses consisting of 1246 female, 1284 male and total 3.156 family members of 59 probands who were accepted in generation III (GEN III). Body Mass Index (BMI) values of 47 probands are included to study. Almost all MrDs were accumulated in GEN I and GEN II. Aging was a valuable risk for OB (OR: 2.96; 95% CI: 1.13-4.55), T2D (OR: 4.92; 95% CI: 2.88-8.42) and Ht (OR: 3.8; 95% CI: 2.36-6.14) among females but was not for males. In family trees, OB in females was positively correlated with total OB (p: 0.000), Ht in females (p: 0.026) and total Hch (p: 0.019). However, male OB was positively correlated with total OB (p: 0.000) and Hch in males (p: 0.011). A positive correlation was also observed between age and BMI values of male probands (p: 0.015), which was not observed in females (p: 0.909). OB in family history was more common (OR: 36; 95% CI: 3.19-405.9) in overweight (BMI≥25) probands than normal individuals in young-aged group (19-29 years old). However, there were no valuable differences between middle-aged probands (30-40 years old). In conclusion, aging is critical factor for only female predisposition to OB and MrDs. Common shared genes between OB and MrDs should be intensively selected for genetic testing in OB and a comprehensive pedigree analysis is valuable for patient-specific evaluation.

Biography:

Seyed Mohammad Azin has completed his PhD at University of Tehran in the field of Private Law. He is a Scientific Board Member of Royan Institute in Tehran, attorney at law and Lecturer in Islamic Azad University of Damavand, Iran. He has published many papers regarding medical law and ethics.

Abstract:

The accelerating progress of Genetics and its wondrous practical benefits has surprised ethical and legal experts. This time, physical sciences surpass ethical and legal considerations and pioneers of genetic evolution all over the world; feel less concern about moral judgments. In this lecture, I suggest a criterion for monitoring genetic prenatal interventions which evaluates morality and legitimacy of what human does contrary to natural phenomenon of gestation. I call it “Random Human Nature Principle”. The principle is supported by at least three ethical milestones. First basis is prohibition of decision making instead of fetus. Fetus, though at least in its first stages of development, lacks enough capacity to be counted as human, has enough respect to have right of life. This involves the right to be born and there is no doubt that we shall let the near future baby decide himself or herself about the physical and mental characteristics and other than the sole exception named below, there is no emergency condition for others’ intervention. So, there is no authority for others to impose their wish to future baby by means of “discretion justifications”. Second basis is forbiddance of human instrumentalism. To promote human features like intelligence or height reduces human position to a product which we intend to create as well as possible. The third milestone is considering human variety as gift rather than defect. Building a society consisting of people with identical physical and mental properties will lead to social stagnation and deprives humankind of opportunities which are provided due to human natural diversity. This differentiation is required to develop a civilization and should not be noticed as a privilege-defect confrontation. Finally, there is a key concept in determining borders of this principle’ application: “Genetic disease or disorder”, this shall be the sole exception regarding accurate calculation of its boundaries.

Biography:

Abstract:

In current study, we enrolled a 46,XY female patient with a testis in her inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A>G (p. Y572C) in exon 2 which is already known to cause CAIS. We focused on the effect of this mutation on the testicular histopathology of the patient. Surface spreading of testicular tissues showed an absence of spermatocytes while H&E staining showed that seminiferous tubules predominantly have only Sertoli cells with a few tubules containing spermatogonia. This meiotic failure is likely due to the effect of the AR mutation leading ultimately to Sertoli cell only syndrome. Tubules were stained with SOX9 and AMH which revealed Setoli cell maturation arrest. Western blot and real-time PCR data showed that the patient had high levels of expression of AMH, SOX9 and INNB in the testis. Therefore we suggest that dysfunctioning of AR enhances AMH though up-regulation of SOX9 which may serve to protect the testis from precocious Sertoli cell maturation.

Biography:

Purvi Patel M.S. is an oncology scientist and is the Vice Chairman of United International Diagnostics, a state of the art diagnostic lab in India. She has done three masters with Major in Medical Biotechnology (India), Molecular Biology (Sweden) and Cancer Biology (USA). She has worked in Cancer diagnostic labs over the period of 6 years and has published several articles in renowned journals like Oncogene, Nature etc. She has been awarded for best research in women’s health at UC Denver. She received honor code certification for Entrepreneurships in developing nations and Innovating in healthcare programs at Harvard Business School, Boston, Massachusetts. Being a cancer scientist, she always wanted to start advanced cancer diagnostic pathology lab in India, which will be affordable to every person in society.

Abstract:

Next Generation sequencing technologies, via vast data enabling, will provide a comprehensive picture of the human genome variation in the future. Here we present a novel consolidated approach for Next Generation Sequencing in the management of cancers. Nowadays, the advent of high-throughput next generation sequencing (NGS) technologies transforming genomics and transcriptomics by providing a single base resolution tool for an in-depth consolidated analysis of diseases complexity and allowing a fast and cost-efficient fine-scale assessment of the genetic variability hidden within cohorts of patients affected by the same cancer type. Therefore, NGS strategies promise to play a crucial role in the selection of tailored therapeutic approaches. UID created a platform of physicians and scientists wherein a consolidated approach was pursued. We demonstrated the utility of genomic information to improve clinical outcomes of cancers, as well as of translation of genomic data, essential to predict and personalize clinical applications to routine clinical practice. This included testing for cancers and analysis of the bioinformatics information by a panel of physicians and geneticists that would be involved with providing suggestions and clinical treatment parameters for the patient. UID proposes an extensive E-learning initiative to train physicians to understand Next Generation Sequencing results. The platform also entails a robust patient engagement model for patient and improving clinical outcomes overall.

Biography:

Kamran Mansouri has completed his PhD in Molecular Medicine from Tehran university of Medical Sciences, Iran. He is the head of angiogenesis department of Medical Biology Research Center. He has published more than 34 papers in reputed journals.

Abstract:

Several studies have shown that testis-specific gene antigen (TSGA10) could be considered as a cancer testis antigen (CTA), except for one study which has identified it as a tumor suppressor gene. In order to exert its function, TSGA10 interacts closely with hypoxia inducible factor (HIF-1α) and since this interaction is still not completely defined, the exact role of TSGA10 in angiogenesis and invasion is also under question. The current study was conducted to investigate the function of TSGA10 gene and evaluate its potential effects on tumor angiogenesis and invasion. To do so, TSGA10 vector was designed for a stable transfection in HeLa cells, and then clonal selection was applied. The efficiency of transfection and the role of TSGA10 in abovementioned targets were evaluated by real-time PCR, western blot, zymography and ELISA tests in both normoxia and hypoxia. Invasion, migration and angiogenesis were assessed. Three-dimensional model of TSGA10 protein was accurately built in which TSGA10 docked to 2 domains of HIF-1α. Increased expression of TSGA10 correlated with decreased HIF-1α transcriptional activity and inhibited angiogenesis and HeLa cells invasion in normoxia as well as hypoxia. Docking analysis indicated that binding affinity of TSGA10 with TAD-C (CBP) domain of HIF-1α would be stronger than that with PAS-B domain. Our findings showed that overexpression of TSGA10 would induce disruption of HIF-1α axis and exert potent inhibitory effects on tumor angiogenesis and metastasis. Therefore, TSGA10 could be considered as a potent therapeutic candidate, prognostic factor and a cancer management tool.

Biography:

Frenkel Guisado Bourzac is Auxiliary Professor (equivalent to Associate Professor, USA) since 2015 and Assistant Professor Ranksince 2007at Faculty of Natural and Exact Sciences, University of Oriente, with more than 12 years of teaching experience.His research is focused at Biochemistry and Molecular Biology, Ecotoxicology, Enzymology, Physiology, Sport Sciences and Higher Education Curriculum, with Master of Science degree from UCCFD and PhD in progress.He has published more than 11 papers in reputed journals with 19 International Meetingsand Congresses participations where others 17 research reports have been published in CD-ROM memories and other scientific journals.

Abstract:

Speed is limited morphologically and physiologically by different factors. Among others, human dimensions and osteomuscular ratios determine speed performance at biomechanical level. The number and type of contractile fibers, favoring anaerobic or aerobic energy supply, provide another restriction for muscle power. Even all them could be modified under certain conditions in a limited rate through exercise training, there are always restrictions by ethnics variations due to genetic heritage of such populations. Finally, molecular storage capacity and kinetic for each pathway are at first line restraining real performance instead of any other improvement at other levels. Records from race constitute a first approach for integrated and non-integrated metabolic system for power supply at muscle fibers. Without drugs influence, they represent the best net effort from the muscular and metabolic machinery of those individuals for different distances. A mathematical modeling was developed for ranges analysis for best performance at different energetic supply rates for establishing tendencies and limits in power. Equations during heterochronism phase reveal speed increase of up to a = 4.66 m/s2 (R² = 0.9866) until reach a maximum speed of 11.79 m/s for few seconds and a global equation for overall performance of V = -0.646 ln(t) + 11.097 (R² = 0.9104). Equations by intervals are provided with statistical analysis for each determination with the metabolic interpretation and biological relevance, giving benefits for health during recovering process and evaluation derived from both physical training and fitness and a potential tool for evaluating individual’s capacities and discovering of disruptions.

Biography:

Dr. Hazel Ann B. David has completed medicine at University of Santo Tomas, Manila, Philippines in 2011. She passed the physician licensure exam in 2012. Dr. David took her pediatric residency at University of Santo Tomas Hospital also in Manila, Philippines.

Abstract:

Kartagener syndrome is a genetic disease caused by defects of the structure and function of the cilia that leads to abnormal mucociliary clearance causing disease of the sinus and pulmonary regions. Kartagener syndrome is characterized by the triad of bronchiectasis, paranasal sinusitis and situs inversus totalis. The most common gene affected is DNAH5 which encodes ciliary dynein axonemal heavy chain. DNAH5 is linked to chromosome 5p which is the primary chromosome affected in Cri Du Chat syndrome. Here, we report a 7 month old Filipino female presenting with the common features of Cri du Chat Syndrome as well as situs inversus totalis, recurrent respiratory infections and bronchiectasis which point to a concomitant Kartagener Syndrome. Kartagener Syndrome can be caused by hemizygous DNAH5 mutation in combination with a 5p segmental deletion which can be attributed to Cri du Chat Syndrome on the opposite chromosome. The patient presented here had a partial deletion in chromosome 5p13-5p15.3 causing deletion of one allele of DNAH5 which resides on chromosome 5p15-p14. A biallelic mutation of DNAH5 must occur to manifest features of Kartagener Syndrome. Immunoflourescent staining done showed complete absence of DNAH5 and the transmission electron microscopy of nasal cilia also confirmed the absence of the outer dynein arms, hence, we conclude that there was a mutation in the remaining allele of DNAH5.

Biography:

Dr. Ramón Cacabelos is Professor of Genomic Medicine at Camilo José Cela University, Madrid, and President of the EuroEspes Biomedical Research Center, Corunna, Spain. He received his M.D. from Oviedo University, Ph.D. from Santiago University, and D.M.Sci. (Psychiatry) from Osaka University Medical School, Japan. After a decade at the Department of Psychiatry in Osaka, he returned to Spain and focused his research activity on the genomics and pharmacogenomics of neurodegenerative disorders. He has published over 600 papers and 24 books, and is Editor-in-Chief of the first World Guide for Drug Use and Pharmacogenomics and President of the World Association of Genomic Medicine.

Abstract:

Hypercholesterolemia is a major risk factor for cardiovascular disorders, stroke and dementia (Alzheimer’s disease, vascular dementia). Many different genes are involved in lipid metabolism responsible for the cholesterolemic phenotype. Genes potentially associated with pathogenic lipid metabolism dysfunction in dementia include the following: APOB (OMIM 107730; rs693 [7545C>T], APOEC3 (OMIM 107720; rs5128 [3175G>C, S1/S2], APOE (OMIM 107741; rs429358/rs7412 [112T>C/158T>C, E2, E3, E4], CETP (OMIM 118470; rs708272 [+279G>A, B1/B2], and LPL (OMIM 609708; rs328 [1421C>G, S474X]. In a selected group of 933 Alzheimer’s disease (AD) patients, we constructed a pentagenic haplotype integrating all possible variants of the APOE+APOB+EPOC3+CETP+LPL genes and identified 111 haplotypes (H) with differential basal cholesterol (CHO) levels. About 75% of these haplotypes in the AD population have a frequency below 1%, 10% have a frequency between 1% and 2%, 8% have a frequency between 2% and 5%, and only 4% of the haplotypes are present in more than 5% of AD patients. The haplotypes most frequently found are H55 (33-CT-CC-AG-CC)(8.79%), H58 (33-CT-CC-GG-CC) and H37 (33-CC-CC-AG-CC)(7.07%). Haplotypes H104 (44-CC-CC-AA-CC)(0.11%), H110 (44-TT-CC-AG-CG)(0.11%) and H98 (34-TT-CC-AA-CG)(0.11%) showed the highest CHO levels, and the lowest levels corresponded to haplotypes H26 (23-TT-CG-AG-CC)(0.11%), H8 (23-CC-CG-AG-CC)(0.21%), H50 (33-CC-GG-AG-CC)(0.21%), and H63 (33-CT-CG-AA-GG)(0.11%). These haplotypes have been used for pharmacogenetic studies in hypercholesterolemic patients with AD.

Biography:

Bas Penders, 23 years old, is a PhD-student and medical student at the Maastricht University Medical Centre. His research focuses on body proportions and growth in children. With colleagues, he has designed a new method to measure body proportions based on digital photographs, photogrammetric anthropometry.

Abstract:

Facial characteristics, short stature, and skeletal anomalies have been described for the clinical diagnosis of Kabuki Syndrome (KS) in children. However, no studies have investigated body proportions in KS. Knowledge of body proportions in KS may contribute to better insight into the growth pattern and characterisation of this genetic disorder. Therefore we compared body proportions of children with KS to normally proportioned controls to investigate if atypical body proportions are part of this genetic disorder. This study was designed and conducted within the setting of the Maastricht University Medical Centre (MUMC+), the official Dutch expert centre for Kabuki syndrome. We conducted a cross-sectional study in 32 children (11 children with KS and 21 controls). Body proportions were determined by means of photogrammetric anthropometry, measurements based on digital photography. Body proportions, quantified as body ratios, differ significantly in children with KS from normally proportioned children. Children with KS have larger heads and longer arms proportional to their trunks and have been found to have longer upper arms proportional to their tibia length and feet. Based on deviations in body proportions it was shown possible to discern children with KS from normally proportioned controls

Biography:

Lola Corzo has completed her Bachelor of Pharmacy from University of Santiago de Compostela, Spain (1991) and qualified as a Specialist in Medicine Laboratory from Complutense University (Madrid) and Clinical University Hospital in Santiago de Compostela (1995). She achieved the certificate of Research Proficiency at the Biochemistry department of Santiago University Medical School (1997). She is the director of Medical Laboratory at the EuroEspes Biomedical Research Center. She has published more than 30 papers in reputed journals and has collaborated as a reviewer in forefront international journals. Her research work is centered on the study of possible bood biomarkers.

Abstract:

The increasing involvement of vascular risk in different pathologies has generated a great interest for the development of predictive vascular markers. We evaluated different serum parameters in 192 persons presenting vascular signs: total cholesterol (TC), HDL-cholesterol (HDL), LDL-cholesterol (LDL), triglycerides (TG), apoA1, apoB, apoE, folate, vitamin B12 (B12), homocysteine, fibrinogen (FB), lipoprotein (a) (LP), and ultrasensitive-PCR (PCR). Vascular-associated genes included: APOC3, APOB, APOE, CETP, LPL, NOS3, ACE, AGT, IL1B, IL6, IL6R, TNFA, F2, F5, and MTHFR. Higher LDL levels were found in patients homozygous for APOE-4. Higher TG concentrations and apoB/apoA1 index were observed in patients with the APOB T7673T genotype. Subjects presenting CETP GG had lower levels of HDL and apoA1. The ACE D/D genotype was associated with lower levels of TC and TC/HDL index. The AGT T235T genotype was associated with decreased FB and PCR levels. IL6R A1510C polymorphism correlated with higher concentrations of B12. F5 G1691A polymorphism was found in patients with higher levels of HDL, apoA1, TC and LP. Lipid dysfunction-related genotypes (APOE allele4, APOB T7673T, CETP GG) were associated with increased atherogenic and decreased atheroprotective lipid levels. However, ACE D/D, AGT T235T and IL6R A1510C genotypes, involved in endothelial impairment, hypertension and immune response, respectively, were not associated with an atherogenic effect.

Biography:

Dr. Oscar Teijido Hermida is the head of the Medical Epigenetics Department at EuroEspes Biomedical Research Center, Institute of Medical Science and Genomic Medicine, Corunna, Spain. He received his PhD in the University of Barcelona, Spain in 2007 with his Thesis titled: Biochemical characterization and location of the protein MLC1, involved in the Megalencephalic Leukoencephalopathy with Subcortical Cysts. During his scientific career in University of A Corunna (Spain), University of Barcelona (Spain), New York University (USA), and The National Institutes of Health (USA), Dr. Teijido achieved more than 20 scientific publications in the molecular genetics, biochemistry, and physiology fields and presented his work in more than 25 International Conferences and invited presentations.

Abstract:

Cerebrovascular and neurodegenerative disorders are among the leading causes of death in the World, according to the WHO. A number of these disorders are characterized by the onset of dementia. Alzheimer’s disease (AD) is the major cause of dementia in Western countries, affecting 45-60% of the population, followed by vascular dementia (VD) and mixed dementia (MD), with prevalences of 30-40% and 10-20%, respectively. Epigenomic mechanisms (DNA methylation, chromatin remodeling/histone modifications, miRNA regulation) are involved in the transcriptional and post-translational regulation of genes in physiological and pathological conditions leading to potentially reversible phenotypes. Epigenetics is sited among the major regulatory elements that control metabolic pathways at the molecular level, which allows a deeper study of complex multifactorial diseases, such as dementia-related disorders. Therefore, epigenomic signatures may help in the prediction, early diagnosis, and prognosis of those pathologies. Human exome sequencing and genome-wide association studies have linked several neurobiological disorders to epigenetically regulated genes. We have evaluated the main epigenetic mechanisms affecting genes associated with dementia-related disorders, such as Alzheimer’s disease (AD), dementia with Lewy bodies (DLB), and frontotemporal dementia (FTD). We also evaluated genes related with lipid metabolism and vascular physiology which are not directly involved in brain disorders, although their epigenetic profile may be nevertheless associated with dementia-related disorders. Epigenetic drug discovery, application of pharmacoepigenomic procedures for personalized therapeutics, novel approaches to decode and resolve drug resistance, and targeting miRNAs in prevention and treatment of dementia-related disorders are promising areas of future development.

Biography:

Dr. Ramón Cacabelos is Professor of Genomic Medicine at Camilo José Cela University, Madrid, and President of the EuroEspes Biomedical Research Center, Corunna, Spain. He received his M.D. from Oviedo University, Ph.D. from Santiago University, and D.M.Sci. (Psychiatry) from Osaka University Medical School, Japan. After a decade at the Department of Psychiatry in Osaka, he returned to Spain and focused his research activity on the genomics and pharmacogenomics of neurodegenerative disorders. He has published over 600 papers and 24 books, and is Editor-in-Chief of the first World Guide for Drug Use and Pharmacogenomics and President of the World Association of Genomic Medicine.

Abstract:

Hypercholesterolemia is a major risk factor for cardiovascular disorders, stroke and dementia (Alzheimer’s disease, vascular dementia). Many different genes are involved in lipid metabolism responsible for the cholesterolemic phenotype. Genes potentially associated with pathogenic lipid metabolism dysfunction in dementia include the following: APOB (OMIM 107730; rs693 [7545C>T], APOEC3 (OMIM 107720; rs5128 [3175G>C, S1/S2], APOE (OMIM 107741; rs429358/rs7412 [112T>C/158T>C, E2, E3, E4], CETP (OMIM 118470; rs708272 [+279G>A, B1/B2], and LPL (OMIM 609708; rs328 [1421C>G, S474X]. In a selected group of 933 Alzheimer’s disease (AD) patients, we constructed a pentagenic haplotype integrating all possible variants of the APOE+APOB+EPOC3+CETP+LPL genes and identified 111 haplotypes (H) with differential basal cholesterol (CHO) levels. About 75% of these haplotypes in the AD population have a frequency below 1%, 10% have a frequency between 1% and 2%, 8% have a frequency between 2% and 5%, and only 4% of the haplotypes are present in more than 5% of AD patients. The haplotypes most frequently found are H55 (33-CT-CC-AG-CC)(8.79%), H58 (33-CT-CC-GG-CC) and H37 (33-CC-CC-AG-CC)(7.07%). Haplotypes H104 (44-CC-CC-AA-CC)(0.11%), H110 (44-TT-CC-AG-CG)(0.11%) and H98 (34-TT-CC-AA-CG)(0.11%) showed the highest CHO levels, and the lowest levels corresponded to haplotypes H26 (23-TT-CG-AG-CC)(0.11%), H8 (23-CC-CG-AG-CC)(0.21%), H50 (33-CC-GG-AG-CC)(0.21%), and H63 (33-CT-CG-AA-GG)(0.11%). These haplotypes have been used for pharmacogenetic studies in hypercholesterolemic patients with AD.

Biography:

Dr. Rashmi Singh did her Masters in 2006 and completed her Ph.D. in 2011 from University of Allahabad. She is working as an Assistant Professor in Department of Zoology, University of Delhi. University of Delhi is one if the premier educational institute. She has published more than 8 papers in reputed journals and has been actively participating in research project work, workshops, conferences, and National and International seminars.

Abstract:

Sarcophaga ruficornis is a medically important flesh fly belonging to sarcophagidae family of Diptera, which are known to spread myiasis in cattle as well as it, has withdrawn a great attention in forensic entomology. Sarcophaga ruficornis was used cytologically to analyze polytene chromosomes from foot pad of seven day old male pupa collected from laboratory stock. Foot pads were treated with cadmium chloride for assessment of the environmental pollutants. Sarcophaga ruficornis was dissected to study the effect of cadmium chloride on polytene chromosome, which allows us to observe the mechanisms of the stress responses and the function of heat shock genes in response to thermo tolerance and adaptation to chemical stresses. Cadmium ranks close to lead and mercury in toxicological importance due to its increasing levels in the environment, as a result of industrial practices of past and present. A single puff was induced on left arm of chromosome II at the locus 12A by in vitro treatment of this heavy metal. Similar puffs have been induced by various chemical stresses (viz., heavy metals, respiratory inhibitors, hypoxia, enzymes, hormones, insecticides etc.) and heat shock effects in several sarcophagids. Thus in the present study induction of a single prominent puff is an indicator of stress response in sarcophagids, Thus it can be used as a tool providing early warning of adverse long term effects of toxic agents on the genome.

Biography:

Zeynep Cengiz has completed her BSc at her 22 years from Fatih University, Faculty of Engineering. Had been attended to the Masonic Cancer Center of University of Minnesota, MN, U.S.A. as an academic visitor for 3 months and by the time had worked in Stem Cell Institute as an intern.

Abstract:

Alcoholism is a complex debilitating disease that influenced by genetic, epigenetic, and environmental factors. It has an active role on some of the gene expressions that is able to cause different types of molecular mechanism changes. Unfortunately, the genetic determinants of risk remain largely unknown, hindering effective prevention and treatment of dependent individuals. To bright up the those gene expressions that how they get effect on complex structure, we should know about gene interactions and also the epigenetic changes. The epigenetic factor is that it involves the changing of the gene activations on DNA without any methylation, phosphorylation, and any acetylation. So by this we able to observe whether if there is any gene expression that causes enzyme translocation or not.In this study, going to do research by differentitation of SH-SY5Y neuroblastoma cells and turn them through neuron like cells so, will be able to study if SH-SY5Y has any effect by chronic ethanol exposure. So showing of alcohol damages in vitro conditions and determining epigenetic changes factors we would be able to find out new gen markers for future treatments and develop new threapeutic agents. We would also be able to figure out how transplanted tissue can be treated by SH-SY5Y cell lines in the project so we can mimic it to real transplant tissue sample when it has alcohol consumption condition.