Scientific Program

Conference Series Ltd invites all the participants across the globe to attend 3rd World Congress on Human Genetics and Genetic Disorders Toronto,Canada.

Day 2 :

Keynote Forum

Manjeet S Mehta

GENETIC WORLD, Molecular Genetics Laboratory, India

Keynote: Putting together the pieces of the genome puzzle

Time : 09:45-10:45

OMICS International Human Genetics Congress 2017 International Conference Keynote Speaker Manjeet S Mehta  photo
Biography:

Manjeet S Mehta is renowned Medical Geneticist from India par excellence. She has a rich experience of more than 3 decades in Human Genetics. She has worked with top hospitals in Bombay including Kokilaben Hospital, Jaslok Hospital, Lilavati Hospital, etc. She has set up the Genetic Department at the country’s leading chain of referral labs. She has worked with Indian Council for Medical Research (ICMR), India’s pioneer institute for biomedical research. After completing PhD, she has also gained advanced training at North York General Hospital, Toronto, and St. George’s Hospital, London. She is in the Review Board for several journals. She is an invited speaker at several conferences worldwide including the World Congress of Perinatal Medicine to be held in Belgrade this year.

Abstract:

Genetics is the basic science for biology and medicine. This truth is getting wider acceptance by the medical community as nowadays any disease of any system, monogenic to multifactorial and infectious disease to cancers, needs a molecular diagnosis. There is extensive use of cytogenetic and molecular genetic techniques in cancer diagnostics, prognostication and treatment. The importance of genetic testing is accepted by clinicians as has been well proved. There is a great need of better understanding of the genetic aspects of birth defects and principles of genetic techniques so that genetic testing can be appropriately used for the benefit of evaluation of fetal anomalies and providing genetic counseling and prenatal diagnosis to the families. Genomic techniques which can analyze the whole genome in one go have made genetic testing easier and the techniques of microarray and exome/genome sequencing are being applied in clinical situations more and more frequently. It has become practically the first-tier test for most of the genetic disorders by exome sequencing for neurogenetic disorders. The cost of this latest technological marvel is within the reach of many families and the costs are likely to come down further. There are some interesting issues about next generation sequencing in medicine. Also, there is importance of knowing the significance of each nucleotide in the genome, so that the exome sequencing data can be analyzed in a more meaningful manner and with more confidence. As more and more exomes are sequenced, more and more data about pathogenic and polymorphic sequence variations is getting accumulated and these comprehensive databases will ease the challenging task of genome/exome analysis to some extent. The whole objective of diagnosis is finding a path towards curative treatment. So, at this juncture, when the clinicians are gradually getting prepared for molecular medicine, the scientific community is putting together some more pieces of the extremely complex puzzle of human physiology and pathology using genomic techniques. Medicine will take some big leaps in the next decade or two.
 

Keynote Forum

Rezvan Mirzaee

Iran University of Medical Sciences, Iran

Keynote: Study of VCAM-1 expression in normal and tumoral tissues in patients with colorectal cancer

Time : 11:05-12:05

OMICS International Human Genetics Congress 2017 International Conference Keynote Speaker Rezvan Mirzaee  photo
Biography:

Rezvan Mirzaee is an Associate Professor of Colorectal Surgery. She has completed her Graduation from Iran University of Medical Sciences. She is a Member of colorectal research center. She has 20 publications. She is specialized in cancer and pelvic floor disorders.

Abstract:

Aim: Colorectal cancer is one of the most commonly diagnosed cancers in the world. Cell adhesion molecules play an important role in the progression of various cancers. It has been shown that the high level expression of some Cell adhesion molecule could be a new diagnostic factor for several cancers. Vascular cell adhesion molecule-1(VCAM-1) is a cell surface glycoprotein that is expressed in the endothelium activated by cytokine. Generally VCAM-1 expression level is very poor in normal adult tissue endothelial cells. According to the above explanation, this study was conducted to investigate the VCAM-1 expression in tumoral tissues and adjacent normal tissues in colorectal cancer patients to its relation with clinicopathological features patients. Methods: In this study, 60 tumoral tissues and 39 adjacent normal tumor tissues was an evaluated by using Reverse transcriptionpolymerase chain reaction (RT-PCR) technique, as well as software SPSS and chi-square test for association of this gene with clinicopathologic features patients were used and P>0.005 was considered significant. Results: VCAM-1 gene in tumor samples (100%) and 33% of the adjacent normal samples was expressed. A significant correlation was found between VCAM-1 expression level and the stage, lymph nodes involvement, tumor progression factor of cancer and sex. VCAM-1 expression not observed in tumor samples with stage 0. No association was seen between VCAM1 expression and other clinical features such as age (P<0.103), size of the tumor (P<0.419). As well as statistically significant association between VCAM-1 expression with metastasis was not observed in these patients (P>0.276). Conclusion: According to data obtained and VCAM-1 expression relationship with tumor progression factor, lymph node involvement and the stage of the cancer, VCAM-1 expression can be in angiogenesis and proliferation of cancer cells in patients with CRC play important role, probably be considered as a prognostic biomarker for colorectal cancer.
 

  • Human Genetics| Clinical Genetics and Dysmorphology| Molecular Genetics | Evolutionary and Population Genetics|Cytogenetics | Therapy for Genetic Disorders|Genomics Disease and Evolution|Congenital Disorders
Location: Eleanor
Speaker

Chair

Dharambir Sanghera

University of Oklahoma Health Sciences Center, USA

Speaker

Co-Chair

Manjeet S Mehta

Genetic World, India

Session Introduction

Khushnooda Ramzan

King Faisal Specialist Hospital and Research Centre, Saudi Arabia

Title: Genetic characterization of Usher Syndrome in Saudi Arabia population

Time : 12:05-12:35

Speaker
Biography:

Khushnooda Ramzan has completed her PhD in Molecular Biology from Punjab University, Pakistan during her PhD she mapped new loci for hearing loss by whole genome wide scan, which was a first step towards the later identification of a novel gene. Currently, she works as a Scientist in the Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. After her PhD, she has joined Department of Genetics, KFSH and RC, Riyadh as Postdoc and continued working on the genetics of hearing loss in Saudi families. This led her to an unusual finding that the most common gene GJB2 responsible of hearing loss worldwide does not play a significant role in their population. Her research focus was then focused to investigate the role of other genes and to identify the novel loci/genes within the Saudi population. She has characterized and documented genetic basis of autosomal recessive deafness in more than 200 families of Saudi Arabian origin; their incidence and distribution were also documented.
 

Abstract:

Hearing impairment is the most common disabling sensory defects in humans with both genetic and environmental etiologies. Severe to profound hearing loss affects 1 in 1,000 newborns, and another 1 in 2,000 children before adulthood. There are many sociological implications of hearing loss, comparatively poor educational achievements, especially for those losing their hearing early in life and problems of isolation and loneliness for those losing their hearing later in life. Usher syndrome (USH) is the most common cause of combined deafness and blindness inherited in an autosomal recessive mode. The identification of disease genes is an important and challenging problem. Proper diagnosis, prevention, as well as care for patients require an understanding of disease pathophysiology, which is best understood when the underlying causative gene(s) or genetic element(s) are identified. Due to high degree of consanguinity in the Saudi Arabian population, incidence of autosomal recessive diseases including hearing loss is higher than worldwide rate. Our study was aims to characterize the genetic basis of this disorder in Saudi Arabia. Consanguineous families are a powerful resource for genetic linkage studies/homozygosity mapping for recessively inherited hearing impairment. Prioritized linkage analysis and homozygosity mapping for was conducted. A next-generation sequencing-based multiplexing assay that encompasses the 120 known hearing loss genes was also used. For genes involved in Usher syndrome, we found mutation in MYO7A (42 families), CDH23 (5 families), PCDH15 (4 families), USH1G (1 family), USH1C (1 family) and USH2A (2 family). The benefit of this study is to reduce the incidence of deafness in Saudi Arabia by providing knowledge and awareness through screening of carrier status and genetic counseling, thereby decreasing socioeconomic burden. Through this study, we have established a detailed KSA specific clinical and molecular database that should improve and accelerate the diagnostic capacity for this disorder in our population.
 

Duaa H.Almomani

Royal Medical Services, Jordan

Title: Diazepam induced oxidative DNA damage in cultured human lymphocytes

Time : 13:40-14:10

Speaker
Biography:

Duaa H Almomani has completed her Master’s degree in Diagnostic Molecular biology and Human Genetics in 2015, Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and technology, Irbid, Jordan. Her experience is in studying the genotoxic effect for drugs by studying the sister chromatid exchange and the chromosome aberration, and she has worked molecular biology in PCR. She also worked as part-time Lecturer, Molecular Diagnostic and Cytogenetics Lab (20015-2016), Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid, Jordan. She is currently, working as Medical Laboratory Scientist in Princess Iman Center for Laboratory Research, Royal Medical Services, Jordanian Armed Forces, Amman, Jordan.
 

Abstract:

Diazepam is a benzodiazepine compound that is mainly used for anxiety, muscle spasms, seizures and insomnia. Several studies have shown that long-term Diazepam treatment is associated with oxidative stress. In this study, the possible genotoxic effect of Diazepam was examined in cultured human white blood cells using the sister chromatid exchanges (SCEs), chromosomal aberrations (CAs) and 8-hydroxy-deoxyguanosine (8-OHdG) assays. Treatment of cultured lymphocytes with different concentrations of Diazepam (1, 10 and 100 µg/mL) did not induce chromosomal DNA damage as measured using SCEs and CAs assays (P>0.05). In addition, no effect was observed on mitotic and proliferative indices (P>0.05). However, Diazepam induced oxidative DNA damage as measured by the 8-OHdG assay in a dose dependent manner (P<0.001). In conclusion, Diazepam seems to induce oxidative DNA damage in cultured human lymphocytes. More in vivo studies are required to confirm current finding.
 

  • Poster Session
Location: Eleanor
Speaker
Biography:

Raman Kumar has his expertise in Genetic Epidemiology and Molecular Biology. His PhD thesis evaluated the cardio-vascular risk factor and familial aggregation of blood pressure with respect to anthropometric variables in a scheduled caste population in Punjab. It was the first of its kind from northern India. He is well versed with modern molecular biology techniques. He has a passion for gaining knowledge as much as possible from various fields.
 

Abstract:

The effects of any single genetic variation for a common complex disease such as T2DM may be dependent on other genetic variations (gene-gene interactions) and environmental factors (gene-environment interactions). Multifactor Dimensionality Reduction (MDR) method helps in detection and characterization of susceptibility in common complex multifactor disorders like Type 2 Diabetes Mellitus (T2DM). Unfortunately, negligible studies are available with this model approach to detect the status of T2DM in north Indian population. Hence, the major objectives of the present study were to investigate the association of ENPP1 K121Q (rs1044498), TCF7L2 G>T (rs12255372) and GYS1 XbaI (A1>A2) (rs8103451) gene variants with T2DM in the north Indian population; and to determine whether significant gene-gene and gene-environment (risk factors related to obesity and cardiovascular diseases) interactions exist between these selected genes in affecting type 2 diabetes mellitus using MDR analysis. A total of 500 participants consisting of 250 type 2 diabetes mellitus (T2DM) and 250 healthy subjects were recruited for this study. Genotyping was performed by PCR-RFLP method. Anthropometric and physiometric variables such as height, weight, waist circumference (WC), hip circumference (HC), SBP and DBP, were measured using standard protocol. The odds ratio and Hardy- Weinberg equilibrium deviation analyses were performed. The gene-gene and gene-environment interactions were performed by multifactor dimensionality reduction (MDR) analysis. In results it was observed that two genes ENPP1 and TCF7L2 are associated with T2DM. However, an insignificant association of the XbaI (A1>A2) polymorphism in GYS1 gene with T2DM was demonstrated. The gene-gene interactions revealed that all the three SNPs have a synergistic effect with each other. The MDR method for gene-environment interactions showed all interaction models first to ninth order interactions for T2DM patients as significant for susceptibility of obesity. The results showed that both the genes ENPP1 and TCF7L2 interacting with WHR and WC increase the susceptibility of obesity many folds among T2DM patients and non-diabetic controls. In conclusion, it is suggested that pathogenesis of T2DM, obesity and hypertension involves interplay of a variety of susceptibility alleles and environment. The gene-gene and gene-environment interactions are not only possible, but, are probably ubiquitous in determining the susceptibility of complex human diseases. Further studies on epistatic interactions are warranted to elucidate their possible underlying role in pathogenesis of T2DM.
 

Speaker
Biography:

Fatemeh Hayati has completed her Master’s in Human Genetics from Universiti Sains Malaysia. Currently, she is pursuing her PhD in Human Genetics in Universiti Sains Malaysia.
 

Abstract:

Statement of the Problem: Although sitagliptin is known as an effective oral antidiabetic agent, some patients do not respond to it and fail to achieve a desirable glucose level. The rate of response to the sitagliptin is determined by many factors. Genetic play a potential role in response to medication such as sitagliptin. Genome wide association studies for type 2 diabetes mellitus (T2DM) have detected strong association between common variants in the fat mass and obesity associated gene (FTO) FTO gene involved in the Wnt signaling pathway. Variations in this gene may affect Wnt signaling pathway and response to incretin based therapy such as sitagliptin. Until now there is no study on rs8050136 and response to sitagliptin. The purpose of this study was to investigate the association of FTO rs8050136 polymorphism with response to sitagliptin. Methodology & Theoretical Orientation: One hundred and thirteen type 2 diabetes patients with uncontrolled glucose level were enrolled for six months to sitagliptin in addition to their previous medication (metformin and sulphonylurea). Response to sitagliptin was defined as HbA1c reduction of more than 0.5% from baseline following sitagliptin therapy. Genotyping of the polymorphism was preformed using mini-sequencing method. Findings: After six months of sitagliptin therapy, half of the patients responded to sitagliptin. No significant association was observed between FTO rs8050136 polymorphism and response to sitagliptin. Conclusion & Significance: We found no association between FTO rs8050136 polymorphism and response to sitagliptin. Our negative result could be due to the sample size. Only one SNP in FTO gene has been studied in this research. Study on other SNP in FTO gene with response to sitagliptin is needed to check the association of this gene with sitagliptin.
 

Speaker
Biography:

Amandeep Kaur is pursuing her PhD and has experience in Cytogenetics and Molecular Genetics. She has worked as Project Fellow under a three-year project on Down syndrome. She has recently completed another project as Principal Investigator in a project sanctioned to her by DST, India under women scientist scheme

Abstract:

Introduction: Folates are essential nutrients required for synthesis of DNA, RNA, amino acid metabolism, formation of SAM, histones and lipids. Folates are reduced and methylated in the liver with the help of enzymes encoded by genes such as MTHFR, MTRR and RFC I. Variants in the genes encoding these enzymes lead to hypomethylation, resulting in non-disjunction which in turn increases the risk for Down syndrome. The present study assessed the effect of these gene variants and other factors among mothers of Down syndrome children. Methodology: A total of 150 mothers having Down syndrome children and 150 mothers having normal children were enrolled in the study. Chromosomal analysis was done to confirm trisomy 21 in children. PCR/RFLP was carried out in mothers for genotyping of MTHFR, MTRR and RFC I. Findings: Out of the 150 cases, 56 were females and 94 were males with age ranging from two days to 17 years. Mean maternal age was 27.2±5.2 years and 28.8±4.9 years in Down syndrome mothers and control mothers, respectively. Further, analysis showed that intake of folic acid during conception helps in reducing risk, while, intake of drugs for having male child, parity and alcohol intake significantly increases the risk for Down syndrome child. Genotypic frequency of MTHFR 1298 A>C was significantly different among cases and controls (χ²=4.78, p=0.02), indicating presence of C instead of A allele in MTHFR 1298 is associated with risk for the Down syndrome. However, other variants (MTRR and RFC I) did not show any association with Down syndrome. Conclusion: In the present study, parity, drugs and alcoholism and presence of MTHFR 1298 A>C variants is associated with increased risk for Down syndrome among mothers.