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 1 :

OMICS International Human Genetics Congress 2017 International Conference Keynote Speaker Barajas-Martinez Hector photo
Biography:

Barajas-Martinez H has worked at the Masonic Medical Research Laboratory as an Associate-Professor/Research Scientist for the past 10 years. Throughout his tenure, he has been fully committed to advancing translational research in the field of genetics in cardiac arrhythmias. His role as a Director in our Molecular Genetics Program is to establish new strategies for molecular genetic approaches to identify new genetic markers in inherited sudden cardiac death syndromes. He played a key role in the discovery and characterization of more than 12 new genes related to Brugada, early repolarization syndromes and short and long QT syndromes, which were published in more than 50 top tier scientific journals. 

Abstract:

Aim & Objectives: This study sought to evaluate the phenotypic and functional expression of an apparent hotspot mutation associated with short QT syndrome (SQTS). Background: SQTS is a rare channelopathic associated with a high risk of life-threatening arrhythmias and sudden cardiac death (SCD). Methods: Probands diagnosed with SQTS and their family members were evaluated clinically and genetically. KCNH2 wildtype (WT) and mutant genes were transiently expressed in HEK293 cells, and currents were recorded using whole-cell patch clamp and action potential (AP) clamps techniques. Results: KCNH2-T618I was identified in 18 members of 7 unrelated families (10 men; median age: 24.0 years). All carriers showed 100% penetrance with variable expressivity. Eighteen members in 7 families had SCD. The average QTc intervals of probands and all carriers were 294.1 _ 23.8 ms and 313.2 _ 23.8 ms, respectively. Seven carriers received an implantable cardioverter-defibrillator. Quinidine with adequate plasma levels was effective in prolonging QTc intervals among 5 cases, but 3 cases still had premature ventricular contraction or nonsustained ventricular tachycardia. Bepridil successfully prevented drug-refractory ventricular fibrillation in 1 case with 19-ms prolongation of the QTc interval. Functional studies with KCNE2 revealed a significant increase of IKr (rapidly activating delayed rectifier potassium channel) tail-current density in homozygous (119.0%) and heterozygous (74.6%) expression compared with WT. AP clamp recordings showed IKr was larger, and peak repolarizing current occurred earlier in mutant versus WT channels. Conclusions: We reported the clinical characteristics and biophysical properties of the highly frequent mutation that contributes to genetically identified SQTS probands. These findings extend our understanding of the spectrum of KCNH2 channel defects in SQTS.
 

OMICS International Human Genetics Congress 2017 International Conference Keynote Speaker Dharambir Sanghera  photo
Biography:

Dharambir Sanghera’s research specializes in the study of molecular and genetic-disease, obesity, and metabolic syndrome. Using expertise in wide range of molecular and statistical genetics concepts, her laboratory is studying the interplay between environmental and genetic factors involved in complex disease pathogenesis on family- and population-based datasets. The long-term goals of her research are: To identify the underlying molecular mechanisms associated with cardiovascular disorders, to improve the classification of the disease process by identifying genome-wide patterns associated with ethnic variation, and to discover new therapeutic targets which can inform the design of early prevention and treatment therapy among disparate populations.

Abstract:

Statement of the Problem: Dyslipidemia is a well-known risk factor for cardiovascular disease and a principal cause of mortality in individuals with type 2 diabetes. Despite, the high heritability (50-80%) of lipid traits, previous genome-wide association studies (GWAS) have only been able to account for a fraction of this heritability (<10%) in genes involved in lipid metabolism. In this study, we aim to identify the rare functional variants in known candidate genes for diabetic dyslipidemia. Methodology & Results: We performed targeted sequencing of 14 candidate genes (~215 kb) for 940 diabetic dyslipidemia individuals [572 cases with high serum triglycerides (TG) (>150 mg/dl) and 368 controls with low TG (<100 mg/dl)] from the Asian Indians Diabetic Heart Study of 2,361 high-quality variants analyzed, 40% of variants were unique to high TG cases and 13.6% variants were unique to controls. Further analysis of variants within the GCKR gene using the Combined Multivariate and Collapsing methods revealed clustering of 13 functionally damaging and deleterious rare mutations near fructose binding site and glucokinase (GCK) binding sites at the sugar isomerase domains. The GCKR encodes glucokinase regulatory protein that regulates GCK by forming a complex, which plays a role in the control of blood glucose homeostasis. The lead variant with a missense mutation of Serine/Asparagine was restricted to individuals with high TG. More than 60% of the carriers were diabetic and 90% of carriers had high TG (ranging from 182 mg/dl to 560 mg/dl). We have designed a transgenic zebrafish (Danio rerio) with human GCKR and tested the phenotypic effects of three functionally disruptive variants to evaluate their metabolic consequences in vivo. Conclusion & Significance: Our results suggest the potential for detecting novel pathways in diabetes linked with hypertriglyceridemia using NGS technology and humanized zebrafish model.
 

OMICS International Human Genetics Congress 2017 International Conference Keynote Speaker Bahar Mahjoubi  photo
Biography:

Bahar Mahjoubi is a Professor of Colorectal Surgery. She has completed her graduation from Sydney University, 2001. Her specific trend is cancer and pelvicfloor diseases. She is the Member of Colorectal Research Center. She has 50 publication. Currently, she is working on project in genetic and stem cell therapy.
 

Abstract:

Background & Objectives: Colorectal cancer (CRC) is the most common gastrointestinal cancer and the second leading cause of death in women. Cancer-Testis Antigens (CTAs) are a group of tumor-associated proteins which typically are expressed in normal reproductive cells of men, but their expression in normal somatic cells is off. CTAs due to their limited expression pattern, are as promising targets for cancer diagnosis and immuno-therapy. Methods: We study the expression of AKAP4, SPAG9 and CTAG1B genes from the CTAs family in both tumor and normal tissues of 62 Iranian CRC patients by RT-PCR with the aim of comparing the genes expression and finding a biomarker for early detection and anticipated progress to CRC. According to studies, AKAP4 and NY-ESO-1 gene expressions in colorectal cancer tissues has not been investigated so far. The SPAG9 gene expression by RT-PCR was first investigated in Iranian patients. Statistical analysis was performed to assess the association of three studied genes expression and clinical risk factors. Result: Sperm-associated antigen 9 (SPAG9) and A-Kinase Anchoring Protein 4 (AKAP4) gene expression respectively were observed in approximately 66% and 44% of tumoral samples but not in adjacent non-cancerous tissues. There was a significant association between AKAP4 gene expression and metastatic samples (P-value: 0.045). CTAG1B (NY-ESO-1) gene was not expressed in our studied patients. Conclusion: In addition, AKAP4 and SPAG9 genes can be a diagnosis biomarkers for CRC and AKAP4 may play an important role in the development and progression of colorectal cancer.