Scientific Program

Conference Series Ltd invites all the participants across the globe to attend 12th World Conference on Human Genomics and Genomic Medicine Abu Dhabi, UAE | Radisson Blu Hotel, Abu Dhabi Yas Island.

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Scientific Program Day 1
Scientific Program Day 2

Day 2 :

Keynote Forum

Vojin Rakić

Center for the Study of Bioethics- University of Belgrade, Serbia

Keynote: What is involuntary moral enhancement?

Time : 09:30-10:30

Biography:

Vojin Rakić is a Full Professor and is Director of the Center for the Study of Bioethics and Head of the European Division of the UNESCO Chair in Bioethics. He is also Chair of the Cambridge Working Group for Bioethics Education in Serbia. He is also Head of the Serbian Unit of the UNESCO Chair in Bioethics. He has a PhD in Political Science from Rutgers University in the United States (1998). He has graduated in Philosophy in Serbia and has MA degrees in European Studies from the Central European University in Prague and from the Department of Political Science of Rutgers University. He has worked as a Senior Research Fellow at the Center for Higher Education Policy Studies at the University of Twente in the Netherlands (1999-2001). Between 2001 and 2003, he was a U.N. Special Adviser to the Government of Serbia. Since 2003 he works as a university Professor in Belgrade. His publications include various books and edited collections, as well as numerous articles from the domain of (bio-)ethics and political philosophy

Abstract:

During the previous years, voluntary moral bioenhancement (VMBE) has been contrasted to Compulsory Moral Bioenhancement (CMBE), promoted primarily by Persson and Savulescu. In this presentation a third possible type of MBE will be discussed: Genome editing for moral enhancement of the unborn that is neither voluntary nor compulsory, but involuntary. The focus of the presentation will therefore be on genome editing that is aimed at moral enhancement of human offspring. It will be argued that genome editing might have the potential to engineer human offspring in three domains: To be more empathetic, less violently aggressive and with a higher potential for complex moral reflection. Genome editing will be discussed in these three domains. It will be argued that a combination of VMBE and IMBE might be the best option humans have to enhance themselves morally.
 

Keynote Forum

Meena Upadhyaya

Cardiff University, UK

Keynote: Recent developments in neurofibromatosis type 1 and RASopathies: Novel therapeutic targets

Time : 11:00-12:00

Biography:

Professor Meena Upadhyaya OBE, is a distinguished professor in the Division of Cancer and Genetics, Cardiff university, UK. She obtained her PhD in Medical Genetics from Cardiff University and gained  FRCPath from Royal College of Pathologists, London. She has made substantial contributions to the molecular understanding of a number of genetic conditions including neurofibromatosis type 1, facioscapulohumeral muscular dystrophy, Legius syndrome, Charcot Marie Tooth disease, Duchenne Muscular Dystrophy, Sotos syndrome, Hunters syndrome inter alia and also supervised numerous PhD, MD, MSc and undergraduate students.  Prof. Upadhyaya has published well over 200 papers in peer reviewed journals and co-edited three books and sits on a number of Committees. She is also passionate about women’s equality in all spheres of life.
 

Abstract:

Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited tumor predisposition syndrome affecting 1/3000-4000 individuals worldwide. Neurofibromin, the protein encoded by NF1 gene down-regulates Ras. The Ras/MAPK pathway plays an essential role in regulating the cell cycle and cellular growth, differentiation and senescence, all of which are critical to normal development. In NF1 patients, benign plexiform neurofibromas can transform into aggressive malignant tumors called Malignant Peripheral Nerve Sheath Tumors (MPNSTs), currently, there are no effective treatments for MPNSTs. The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/MAPK pathway. These disorders include neurofibromatosis type 1, Legius syndrome, Noonan syndrome, Noonan syndrome with multiple lentigines (LEOPARD), capillary arteriovenous malformation syndrome, Costello syndrome cardiofaciocutaneous syndrome and SYNGAP1 autism. Because of the common underlying Ras/MAPK pathway dysregulation, they have overlapping phenotypic features, including cancer, facial dysmorphia, neurocognitive impairment, pain and cardiovascular, musculoskeletal, gastrointestinal and cutaneous abnormalities. NF1 was the first Rasopathy syndrome reported in the RAS pathway. Several ongoing clinical trials exist for RASopathies including NF1 and effective treatments for certain clinical features are on horizon. NF1 also has great importance and significance in a number of sporadic cancers and functions as a central tumor suppressor gene in these cancers. With the recent advances in sequencing technologies, high-throughput drug discovery platforms, increasing availability of more sophisticated animal models and application of the state-of-art tumor imaging techniques, diagnosis and treatment of patients with RASopathies is improving.
 

  • Human Genetics | Gene Mutation | Genetic Diseases | Cancer Genetics | DNA Sequencing | Medical Genetics | Stem Cell Therapy | Bioinformatics and Computational Biology | Genome Editing | Sickle Cell Anemia | Genomics | Regenerative Medicine
Location: Radisson Blu Hotel Hall 1

Session Introduction

Asma M Alshammari

Al-Ghad International College, Saudi Arabia

Title: Massively parallel next generation sequencing to investigate the cis-acting genetic modifiers of somatic instability in Huntington’s disease

Time : 11:30-12:00

Biography:

Asma M Alshammari is currently working as a senior specilisit in Human Molecular Genetics at Kuwait Medical genetics Centre. She has completed her PhD in Human Molecular Genetics from University of Glasgow.
 

Abstract:

Huntington Disease (HD) is an extremely variable inherited neurodegenerative disorder caused by expansion of an unstable CAG trinucleotide repeat in the huntingtin gene (HTT). Somatic instability in HD exhibits an age-dependent, expansion-biased and tissue-specific pattern and the highest level of somatic instability is found in tissues that are most susceptible to the disease pathology. Therefore, the aim of this project was to test the hypothesis that somatic instability of the HD CAG repeat plays a major role in disease pathology by quantifying somatic instability in the number of CAG repeats by next generation sequencing (NGS) technology in buccal cell DNA. We developed a high-throughput sequencing pipeline to sequence and genotype HTT alleles from blood and buccal swab DNA of the Scottish and Venezuelan populations, respectively. A total of 210 individuals from the Scottish general population and 742 HD patients and unaffected individuals from the Venezuelan HD cohort were sequenced on the MiSeq platform. We established that it was possible to sequence and genotype the CAG repeats, the polymorphic CCG repeat and the flanking sequences. Our data highlight the utility of NGS technology as an approach to genotype HTT alleles, detect sequence variants and quantify somatic instability of the CAG repeat. Our data emphasise that the somatic instability in HD is age-dependent and expansion-biased, also could be a major factor in disease progression and could be a potential therapeutic target in HD.
 

Mariam Fida

Al Jawhara Center, Bahrain

Title: Allele amplification failure in the HBB gene due to allelic dropout in a pre-preimplantation genetic testing case

Time : 12:00-12:30

Biography:

Mariam Fida has recieved her PhD in Medical Genetics from the Univesrity of Edinburgh, Scotland. She is also specialized in Preimplantation Genetics Diagnosis at Reproductive Genetic Innovations in Chicago. She established the first PGD center in Bahrain and is currently the Director of the Center and is a Consultant in Medical Genetics.
 

Abstract:

Beta-Thalassemia is one of the common autosomal recessive inherited genetic conditions in the GCC region due to increased rates of consanguinity. It is a condition caused by several different types of mutations in the HBB gene. The current case represents a 30-year old gentleman who was informed to be a heterozygous carrier of β-thalassemia. At the clinic, peripheral blood was drawn for DNA sequencing. Although the patient indicated that he was a carrier, sequencing results surprisingly showed him to be affected with the codon 39 mutation which does not correspond at the genotype-phenotype level indicating the possibility of an allele dropout. Further analysis was carried out using two different sets of designed primers to confirm the carrier status. This showed that the gentleman is indeed a carrier of β-thalassemia at codon 39 of the HBB gene. In conclusion, to overcome and minimize the incidence of an allele dropout event in the pre-PGT setting and during PGT-M, it is advisable to detect every mutation using at least two different sets of primers to avoid unknown SNPs around the mutation region

Hilde Van Esch

Katholieke Universiteit Leuven, Belgium

Title: Modelling neuro developmental disorders in a dish

Time : 12:30-01:00

Biography:

Hilde Van Esch has completed her PhD  from Katholieke Universiteit Leuven, Belgium. She has then pursued Post-doc at Institut Cochin in Paris on X-linked intellectual disability. She currently works as a Clinical Geneticist at the University Hospitals UZ Leuven and is Associate Professor in the Department of Human Genetics and Head of the Laboratory of Genetics of Cognition at the University of Leuven, Belgium. Her research interests includes the identification of genes involved in rare diseases and intellectual disability. She has published and coauthered more than 170 papers in reputed journals and is a Board Member of the European Society of Human Genetics.

Abstract:

The leading manifestation of brain dysfunction is intellectual disability, affecting approximately 3% of the general population. Given the uniqueness and the complexity of human cognition and behavior, studies in humans are essential to understand the role of the multitude of genes involved in these processes. We previously developed IPSC from patients with MECP2 duplication syndrome carrying different duplication sizes, to study the impact of increased MePC2 dosage in human neurons. MECP2 duplication syndrome is a severe neurodevelopmental disorder in males, characterized by severe neurodevelopmental delay with onset at birth, limited or absent speech, hypotonia, epilepsy, autism and motor dysfunction. Cortical neurons derived from Mecp 2dup-iPSCs had more synapses and altered network synchronization as well as dendritic complexity. Next, we tested a series of epigenetic drugs for the ability to rescue neuronal defects and validated two HDAC inhibitors as potential clinical candidates. We are currently developing an iPSC model for a novel tubulinopathy, characterized by intellectual disability associated with characteristic dysmorphic signs: circumferential skin creases, cleft palate, facial dysmorphisms and short stature.  This developmental disorder is caused by mutations in a novel gene, MAPRE2 (Microtubule-Associated Protein Member 2) encoding a member of the EB family. We derived patient-specific induced Pluripotent Stem Cell (iPSC) and established isogenic rescue lines as well as patient specific knock-in lines using CRISPR/CAS9. These iPSC’s are then differentiated towards Neural Progenitor Cells (NPC), cortical neurons and Cranial Neural Crest Cells (CNCC) using adapted and optimized differentiation protocols. Preliminary functional experiments using patient fibroblasts showed an increase in migration speed and overall mitosis duration. We will now perform similar experiments to analyze the mitosis and migration rate of iPSC derived NPC’s and CNCC’s. In addition a full morphological work-up is ongoing. We will present these novel data at the meeting. 

Manisha Mishra

All India Institute of Medical Sciences, India

Title: Association of MMP2 polymorphisms in preeclampsia Manisha Mishra

Time : 14:00-14:30

Biography:

Manisha Mishra had completed Bachelor of Dental Surgery and MSc Anatomy from All India Institute of Medical Sciences, New Delhi, India. She is currently a Senior Reseach Fellow at All India Institute of Medical Sciences, India.

 

Abstract:

Background & Aim: Imbalanced Matrix Metalloproteinase (MMP) expression, including MMP-2, has been demonstrated in pre-eclampsia. However, little is known about the effect of MMP-2 gene polymorphisms on hypertensive disorders of pregnancy. Therefore, we examined Matrix Metalloproteinase (MMP-2) gene polymorphisms (g.-735C/T) and its association with Preeclampsia (PE) and measured the levels of MMP-2 serum concentrations in PE. Method: 30 preeclamptic and 30 healthy pregnant women were enrolled from department of obstetrics and gynaecology, AIIMS, New Delhi after getting approval from Institute ethical committee. Genomic DNA was extracted from blood and amplified by PCR. MMP2 gene polymorphisms of -735C/T was detected by Restriction Fragment Length Polymorphism (RFLP). The levels of MMP2 in sera were measured by ELISA. Result: The maternal serum MMP2 levels was found to be more in PE patients than in control group (p=0.03). The increased frequency of CT genotype for MMP2 (-735C/T) Single Nucleotide Polymorphism was seen in PE patients as compared to control group. However the difference in genotype frequency was not statistically significant (p=0.35). Conclusion: These findings may help to understand the relevance of MMP-2 and its genetic polymorphisms to the pathophysiology of hypertensive disorders of pregnancy like preeclampsia and IUGR. 

Sarah Sabir

Kinnaird College for Women, Pakistan

Title: Molecular characterization of families affected with autosomal recessive primary microcephaly

Time : 14:30-15:00

Biography:

Sarah Sabir has completed her MPhil (Master in Philosophy) in Biochemistry in 2016 from Kinnaird College, Pakistan. Her research interests are in molecular genetics of various diseases, retrovirus biochemistry, neurodevelopmental disorders, cell division, cell biology and structural biological studies of proteins. She has published her Bachelors research work  entitled “Molecular Studies on preproinsulin gene” in Matec web of conference 2016 6th International Conference on Chemistry and Chemical Process, ICCCP 2016. She also did Internship at Chagatai’s Lahore lab for six months and worked in the departments of hematology, microbiology, molecular biology and biochemistry and learned about testing of blood samples, streaking and culturing of the samples of blood and urine, doing PCR on HCV samples and performing LFTs and RFTs on various blood samples. Currently she is working as a High School Science Assistant in Lahore American School. She has plans to pursue her PhD in Biochemistry from a well known institute.
 

Abstract:

Statement of the Problem: Cousin Marriage is very common in part of world and there have been proven association with the degree of consanguineous marriages and prevalence of autosomal recessive genetic disorders. It is reported that 60% of cousin marriages in Pakistan is the subject of prevalence of most rare genetic disorders in our population. Microcephaly which is present at birth and causes non-progressive mental retardation is called autosomal recessive primary microcephaly (MCPH), whereas which develops postnatally is secondary microcephaly. It is a neurogenic mitotic disorder which results in small brain size compared to one third of normal brain. Affected patients have normal neuronal migration, neuronal apoptosis and neuronal function. Sixteen MCPH loci have been reported by different scientist from various populations around the world containing the following genes Microcephalin, WDR62, CDKRAP2, CASC, ASPM, CENPJ, STIL, CEPH135, CEPH152, ZNF335, PHC1, CDK6, CENPE, SAS6, MFSD2A and ANKLE2. Mutations in any one of the gene will lead to disease phenotype due to premature chromosomal condensation, disturbed mitotic spindle orientation, signaling response as a result of DNA damage. Methodology & Theoretical Orientation: In the current study, the molecular genetics of five families affected with autosomal recessive primary microcephaly from Pakistani origin were studied. By taking the head circumference of the affected individual these families were identified  from different cities of Pakistan. Clinical information was collected with the help of a carefully designed questionnaire. Venous blood sample of the affected families was collected and genomic DNA was extracted using standard phenol-chloroform method. Four loci i.e. MCPH5 (ASPM), MCPH2 (WDR62), MCPH1 (Microcephalin) and MCPH6 (CENPJ) were selected for initial screening bring the most prevalent loci reported from Pakistan. Linkage analysis of the affected families was done by Polymerase Chain Reaction (PCR) using specific microsatellite markers flanking the selected gene. 8% native Polyacrylamide Gel (PAGE) was used to identify PCR results. Conclusion & Significance: Five families affected with autosomal recessive primary microcephaly were mentioned in this study. These families were screened for ASPM, WDR62, CENPJ genes. These families showed no linkage to the initial screening done for the three most prevalent loci reported from this region. Hence, it can be concluded that disease phenotype in these families is apparently not due to mutations in these three genes, however further screening using more markers and mutation screening of these families will give confirmed results. The aim of this study is to elucidate the molecular genetics of this disorder in five affected families. Linkage analysis will be initially done followed by mutations screening of the families linking to any of the known loci. The current project will enable us to offer carrier screening and genetic counseling, which will be our meager contribution towards reducing the prevalence of this disease our parent population. Results: The gel analysis revealed that two of the families are linked with ASPM gene, whereas the rest of three were not found linked  with ASPM, WDR62, CENPJ and Microcephalin genes.

Sarah Sabir

Kinnaird College for Women, Pakistan

Title: Molecular characterization of families affected with autosomal recessive primary microcephaly
Biography:

Sarah Sabir has completed her MPhil (Master in Philosophy) in Biochemistry in 2016 from Kinnaird College, Pakistan. Her research interests are in molecular genetics of various diseases, retrovirus biochemistry, neurodevelopmental disorders, cell division, cell biology and structural biological studies of proteins. She has published her Bachelors research work  entitled “Molecular Studies on preproinsulin gene” in Matec web of conference 2016 6th International Conference on Chemistry and Chemical Process, ICCCP 2016. She also did Internship at Chagatai’s Lahore lab for six months and worked in the departments of hematology, microbiology, molecular biology and biochemistry and learned about testing of blood samples, streaking and culturing of the samples of blood and urine, doing PCR on HCV samples and performing LFTs and RFTs on various blood samples. Currently she is working as a High School Science Assistant in Lahore American School. She has plans to pursue her PhD in Biochemistry from a well known institute.
 

Abstract:

Statement of the Problem: Cousin Marriage is very common in part of world and there have been proven association with the degree of consanguineous marriages and prevalence of autosomal recessive genetic disorders. It is reported that 60% of cousin marriages in Pakistan is the subject of prevalence of most rare genetic disorders in our population. Microcephaly which is present at birth and causes non-progressive mental retardation is called autosomal recessive primary microcephaly (MCPH), whereas which develops postnatally is secondary microcephaly. It is a neurogenic mitotic disorder which results in small brain size compared to one third of normal brain. Affected patients have normal neuronal migration, neuronal apoptosis and neuronal function. Sixteen MCPH loci have been reported by different scientist from various populations around the world containing the following genes Microcephalin, WDR62, CDKRAP2, CASC, ASPM, CENPJ, STIL, CEPH135, CEPH152, ZNF335, PHC1, CDK6, CENPE, SAS6, MFSD2A and ANKLE2. Mutations in any one of the gene will lead to disease phenotype due to premature chromosomal condensation, disturbed mitotic spindle orientation, signaling response as a result of DNA damage. Methodology & Theoretical Orientation: In the current study, the molecular genetics of five families affected with autosomal recessive primary microcephaly from Pakistani origin were studied. By taking the head circumference of the affected individual these families were identified  from different cities of Pakistan. Clinical information was collected with the help of a carefully designed questionnaire. Venous blood sample of the affected families was collected and genomic DNA was extracted using standard phenol-chloroform method. Four loci i.e. MCPH5 (ASPM), MCPH2 (WDR62), MCPH1 (Microcephalin) and MCPH6 (CENPJ) were selected for initial screening bring the most prevalent loci reported from Pakistan. Linkage analysis of the affected families was done by Polymerase Chain Reaction (PCR) using specific microsatellite markers flanking the selected gene. 8% native Polyacrylamide Gel (PAGE) was used to identify PCR results. Conclusion & Significance: Five families affected with autosomal recessive primary microcephaly were mentioned in this study. These families were screened for ASPM, WDR62, CENPJ genes. These families showed no linkage to the initial screening done for the three most prevalent loci reported from this region. Hence, it can be concluded that disease phenotype in these families is apparently not due to mutations in these three genes, however further screening using more markers and mutation screening of these families will give confirmed results. The aim of this study is to elucidate the molecular genetics of this disorder in five affected families. Linkage analysis will be initially done followed by mutations screening of the families linking to any of the known loci. The current project will enable us to offer carrier screening and genetic counseling, which will be our meager contribution towards reducing the prevalence of this disease our parent population. Results: The gel analysis revealed that two of the families are linked with ASPM gene, whereas the rest of three were not found linked  with ASPM, WDR62, CENPJ and Microcephalin genes.

Asmaa AlFadil Hassan Khalifa

University of Medical Sciences and Technology, Sudan

Title: Genetic markers associated with inflammatory bowel disease- detection of NODI, 2 mutations in inflammatory bowel disease among Sudanese patients

Time : 15:00-15:30

Biography:

Inflammatory Bowel Disease (IBD) comprising Ulcerative Colitis (UC) and Crohn's Disease (CD) is debilitating chronic immune disorder of the intestinal mucosa, multigenic in nature, resulting from dysfunctional interactions between the intestinal immune system and its micro flora, influenced by host genetic susceptibility as suggested in linkage, epidemiologic, racial, familial aggregation and twin studies. It has led to the discovery of mutations in nucleotide- binding oligomerization domain containing protein 2 (NOD2) also known as caspase recruitment domain containing protein 15 (CARD15) or inflammatory bowel disease protein 1 (IBD1) which located in chromosome 16q12 and associated with ileal CD, also numerous other genes’ mutations have been found to be associated with IBD susceptibility such as NOD1/CARD4 mutations in chromosome 7p14.3 in UC patients. Nod-like receptor family plays a key role in realization of innate and adaptive immune response. Their polymorphisms may shift balance between pro- and antiinflammatory cytokines, modulating the risk of chronic inflammation. The rational and prevalence of IBD is dependent on geographic location and racial background. The study met its objective in determining whether genetic, environment and socio-economical components contribute to the development of IBD in Sudanese population and furthermore, whether the race and dietary intake associated. Different groups’ joined this study were from Sudanese population. They had been divided into two; patients with colonoscopy diagnosed IBD and individuals who don’t have IBD as controls. Each group was classified according to gender, age and race. Blood samples (Biospecimen Retention) from the included participants at the Gastroenterology Department in Ibn-Sina Hospital were collected and sent to Al-Neelain Medical Research Centre for DNA purification and isolation, Polymerase Chain Reaction (PCR) amplification, establishment of sequence analysis and product identification of genetic polymorphisms associated with IBD. Finally genotyping was the end point. Also, a questionnaire was designed to collect data in such a way to achieve objectives of the study. The collected data was tabulated and analyzed using Statistical Package for Social Sciences (SPSS 14.0) computer program. The study revealed that Shaigeia and Ga’aleia (Northern tribes) were found to be more affected by Ulcerative Colitis than other tribes (13.3%). Thus, suggesting possible link with ethnic origin. Also, it resulted that ulcerative colitis was associated with the economic status of the patient. Subjects with low economic status were found to be more likely to develop it (60%). The most important result after the laboratory experiments was the obvious association of ulcerative colitis with the allelic mutation in NOD1 (70%). While Crohn’s disease was not found to be associated with (-/C) allele insertion.
 

Abstract:

Asmaa AlFadil Hassan Khalifa has completed her BSc from University of Gezira School of Pharmacy and MSc studies from University of Medical Sciences and Technology, Sudan. In 2018, she has completed a Diploma in IV Compounding Techniques from Notting Hill College, Manchester, United Kingdom. She is a Clinical Pharmacy Specialist and a Member of Sudan Medical Council. She is licensed as Clinical Pharmacist in Department of Health, Abu Dhabi, United Arab Emirates also a BLS Provider in American Heart Association. She did a research in Injection Safe Disposal: Safe Disposal Policy in Compliance with WHO recommendations in 2010 for her BSc thesis sponsored by WHO. 

Nigora Mavlyanova

Ministry of Health of the Republic of Uzbekistan, Uzbekistan

Title: The role of xenobiotic enzyme genes in predicting fetal loss syndrome in Uzbekistan

Time : 16:00-16:30

Biography:

Nigora Mavlyanova is the Scientific Leader of the Youth Applied Grant from the Republican Specialized Scientific and Practical Medical Center of Obstetrics and Gynecology, Ministry of Health of the Republic of Uzbekistan. She is a Member of the Association of Obstetricians and Gynecologists of the Republic of Uzbekistan. She has published over 20 articles in famous magazines.
 

Abstract:

Introduction: Fetal loss syndrome is a multifactorial disease characterized by a universal integrated response of the female body to any ill health in the pregnant woman, the fetus and the environment, the result of the action of functionally weakened variants (alleles) of many genes against the background of adverse external and internal factors. Glutathione-S-transferase (GST) metabolizes foreign substances or controls the entry of carcinogens into cells. Aim: The goal of our research was to establish the role of the polymorphic variants of the xenobiotic enzymes genes GSTM1 and GSTT1 and IIe 105Val of the gene GSTP1 in the mechanism of formation and development of fetal loss syndrome. Material & Methods: Molecular genetic studies were conducted in 114 pregnant women aged from 20 to 45 years old. Molecular genetic examination of biomaterials (DNA) was performed at Department of Molecular Medicine and Cellular Technologies of the Research Institute of Hematology and Blood Transfusion of the Ministry of Health of the Republic of Uzbekistan. Statistical analysis of the results was carried out using the statistical software package "OpenEpi 2009, Version 2.3". Results: The results of molecular genetic studies in pregnant women with Fetal Loss Syndrome (PPS) showed an increased detection rate of combined functionally defective genotypes GSTM10/0+GSTT10/0 - 25.4%, against the control group 4.1% (χ2=12.4; P=0.0004; OR=7.8; 95% CI 2.146-28.65). Whereas, with the combined variants - the null and functional genotypes of the polymorphism of the GSTM1 and GSTT1 genes between the studied groups did not reveal statistically significant differences (χ2=0.1; P=0.3; OR=1.4; 95% CI 0.697-282; p>0.05). Whereas, the distribution of genotypes IIe 105 Val of the GSTP1 xenobiotic enzyme in pregnant women revealed a high detectability of A/G genotype polymorphism in the pregnant group compared to the control group 56.1% versus 19.4%, which was 2.9 times higher than the control groups. Thus, an analysis of the association of genic combinations of zero polymorphisms of the GSTM1 and GSTT1 genes revealed that in the group of pregnant women with fetal loss syndrome, combinations of the homozygous del/del genotype responsible for the lower level of protein product synthesis are significantly more common. The chance of developing pathology in the presence of this combination of the genotypic version of the del/ del genes GSTM1 and GSTT1 increases significantly: Up to 7.8 times more than other genotypes (χ2=12.4; P=0.0004; OR=7.8; 95% CI 2.146-28.65). Whereas, the functionally unfavorable GSTP1 G allele 2.7 times was statistically significantly predominant in the studied chromosomes of pregnant women with PPS compared with pregnant women without PBS (χ2=4.6; P=0.03; OR=4.5; 95% CI 1.061-19.5). Conclusion: Analysis of the results showed that the polymorphism variants of the GSTM10/0+GSTT10/0 genotypes of the GSTM1 and GSTT1 genes, as well as the G/A IIe 105 Val genotypes of the GSTP1 gene are significant predictors of the risk of developing fetal loss syndrome, resulting in disorders of the detoxification process in the body in women during pregnancy.

Nigora Mavlyanova

Ministry of Health of the Republic of Uzbekistan, Uzbekistan

Title: The role of xenobiotic enzyme genes in predicting fetal loss syndrome in Uzbekistan

Time : 0000

Biography:

Nigora Mavlyanova is the Scientific Leader of the Youth Applied Grant from the Republican Specialized Scientific and Practical Medical Center of Obstetrics and Gynecology, Ministry of Health of the Republic of Uzbekistan. She is a Member of the Association of Obstetricians and Gynecologists of the Republic of Uzbekistan. She has published over 20 articles in famous magazines.
 

Abstract:

Introduction: Fetal loss syndrome is a multifactorial disease characterized by a universal integrated response of the female body to any ill health in the pregnant woman, the fetus and the environment, the result of the action of functionally weakened variants (alleles) of many genes against the background of adverse external and internal factors. Glutathione-S-transferase (GST) metabolizes foreign substances or controls the entry of carcinogens into cells. Aim: The goal of our research was to establish the role of the polymorphic variants of the xenobiotic enzymes genes GSTM1 and GSTT1 and IIe 105Val of the gene GSTP1 in the mechanism of formation and development of fetal loss syndrome. Material & Methods: Molecular genetic studies were conducted in 114 pregnant women aged from 20 to 45 years old. Molecular genetic examination of biomaterials (DNA) was performed at Department of Molecular Medicine and Cellular Technologies of the Research Institute of Hematology and Blood Transfusion of the Ministry of Health of the Republic of Uzbekistan. Statistical analysis of the results was carried out using the statistical software package "OpenEpi 2009, Version 2.3". Results: The results of molecular genetic studies in pregnant women with Fetal Loss Syndrome (PPS) showed an increased detection rate of combined functionally defective genotypes GSTM10/0+GSTT10/0 - 25.4%, against the control group 4.1% (χ2=12.4; P=0.0004; OR=7.8; 95% CI 2.146-28.65). Whereas, with the combined variants - the null and functional genotypes of the polymorphism of the GSTM1 and GSTT1 genes between the studied groups did not reveal statistically significant differences (χ2=0.1; P=0.3; OR=1.4; 95% CI 0.697-282; p>0.05). Whereas, the distribution of genotypes IIe 105 Val of the GSTP1 xenobiotic enzyme in pregnant women revealed a high detectability of A/G genotype polymorphism in the pregnant group compared to the control group 56.1% versus 19.4%, which was 2.9 times higher than the control groups. Thus, an analysis of the association of genic combinations of zero polymorphisms of the GSTM1 and GSTT1 genes revealed that in the group of pregnant women with fetal loss syndrome, combinations of the homozygous del/del genotype responsible for the lower level of protein product synthesis are significantly more common. The chance of developing pathology in the presence of this combination of the genotypic version of the del/ del genes GSTM1 and GSTT1 increases significantly: Up to 7.8 times more than other genotypes (χ2=12.4; P=0.0004; OR=7.8; 95% CI 2.146-28.65). Whereas, the functionally unfavorable GSTP1 G allele 2.7 times was statistically significantly predominant in the studied chromosomes of pregnant women with PPS compared with pregnant women without PBS (χ2=4.6; P=0.03; OR=4.5; 95% CI 1.061-19.5). Conclusion: Analysis of the results showed that the polymorphism variants of the GSTM10/0+GSTT10/0 genotypes of the GSTM1 and GSTT1 genes, as well as the G/A IIe 105 Val genotypes of the GSTP1 gene are significant predictors of the risk of developing fetal loss syndrome, resulting in disorders of the detoxification process in the body in women during pregnancy.

Nigora Mavlyanova

Ministry of Health of the Republic of Uzbekistan, Uzbekistan

Title: The role of xenobiotic enzyme genes in predicting fetal loss syndrome in Uzbekistan
Biography:

Nigora Mavlyanova is the Scientific Leader of the Youth Applied Grant from the Republican Specialized Scientific and Practical Medical Center of Obstetrics and Gynecology, Ministry of Health of the Republic of Uzbekistan. She is a Member of the Association of Obstetricians and Gynecologists of the Republic of Uzbekistan. She has published over 20 articles in famous magazines.
 

Abstract:

Introduction: Fetal loss syndrome is a multifactorial disease characterized by a universal integrated response of the female body to any ill health in the pregnant woman, the fetus and the environment, the result of the action of functionally weakened variants (alleles) of many genes against the background of adverse external and internal factors. Glutathione-S-transferase (GST) metabolizes foreign substances or controls the entry of carcinogens into cells. Aim: The goal of our research was to establish the role of the polymorphic variants of the xenobiotic enzymes genes GSTM1 and GSTT1 and IIe 105Val of the gene GSTP1 in the mechanism of formation and development of fetal loss syndrome. Material & Methods: Molecular genetic studies were conducted in 114 pregnant women aged from 20 to 45 years old. Molecular genetic examination of biomaterials (DNA) was performed at Department of Molecular Medicine and Cellular Technologies of the Research Institute of Hematology and Blood Transfusion of the Ministry of Health of the Republic of Uzbekistan. Statistical analysis of the results was carried out using the statistical software package "OpenEpi 2009, Version 2.3". Results: The results of molecular genetic studies in pregnant women with Fetal Loss Syndrome (PPS) showed an increased detection rate of combined functionally defective genotypes GSTM10/0+GSTT10/0 - 25.4%, against the control group 4.1% (χ2=12.4; P=0.0004; OR=7.8; 95% CI 2.146-28.65). Whereas, with the combined variants - the null and functional genotypes of the polymorphism of the GSTM1 and GSTT1 genes between the studied groups did not reveal statistically significant differences (χ2=0.1; P=0.3; OR=1.4; 95% CI 0.697-282; p>0.05). Whereas, the distribution of genotypes IIe 105 Val of the GSTP1 xenobiotic enzyme in pregnant women revealed a high detectability of A/G genotype polymorphism in the pregnant group compared to the control group 56.1% versus 19.4%, which was 2.9 times higher than the control groups. Thus, an analysis of the association of genic combinations of zero polymorphisms of the GSTM1 and GSTT1 genes revealed that in the group of pregnant women with fetal loss syndrome, combinations of the homozygous del/del genotype responsible for the lower level of protein product synthesis are significantly more common. The chance of developing pathology in the presence of this combination of the genotypic version of the del/ del genes GSTM1 and GSTT1 increases significantly: Up to 7.8 times more than other genotypes (χ2=12.4; P=0.0004; OR=7.8; 95% CI 2.146-28.65). Whereas, the functionally unfavorable GSTP1 G allele 2.7 times was statistically significantly predominant in the studied chromosomes of pregnant women with PPS compared with pregnant women without PBS (χ2=4.6; P=0.03; OR=4.5; 95% CI 1.061-19.5). Conclusion: Analysis of the results showed that the polymorphism variants of the GSTM10/0+GSTT10/0 genotypes of the GSTM1 and GSTT1 genes, as well as the G/A IIe 105 Val genotypes of the GSTP1 gene are significant predictors of the risk of developing fetal loss syndrome, resulting in disorders of the detoxification process in the body in women during pregnancy.

Salma Ahmadloo

Shahid Beheshti University, Iran

Title: Gene expression signatures identify novel regulatory genes and signaling pathways in young hypertensive patients making them susceptible to develop premature coronary heart disease

Time : 16:30-17:00

Biography:

Hypertension stands out as major modifiable risk factors for premature Coronary Heart Disease (CHD) and it is well established that the incidence of over 80% of CHD is attributable to the modifiable risk factors including hypertension. This chronological study was carried out for the purpose of profiling expression of hypertension associated genes and identify related biological process and modulated signaling pathways of young Malaysian subjects (<55 years old, total number= 168) with hypertension who had developed premature CHD after at least five years. In order to achieve the goal, four groups of subjects were divided into: (1) 42 Healthy subjects, (2) 42 subjects with only HT, (3) 42 subjects with only HT and (4) 42 subjects with CHD+HT. The RNA was extracted from blood specimens by mean of commercial extraction kits. The RT2 Profiler™ PCR Array was utilized to determine gene profiling on group 1 and group 2, group 1 and group 3, group 1 and group 4. To validate the results of RT2 Profiler™ PCR Array, significantly dysregulated genes were selected and validation was conducted through q-RT-PCR in a larger and independent population. For this purpose, new subjects (total number=150) were divided into: (1) 75 Healthy subjects, 2) 75 subjects with hypertension+CHD. Sixteen significantly dysregulated genes related to hypertension were identified and the Ras cell signaling pathway was highlighted as a culprit in people suffering from hypertension which may be prone to CHD. In silico analysis showed that the majority of the identified genes involved in reninangiotensin regulation and other categories related to renin-angiotensin such as, regulation of blood volume and regulation of blood vessel by renin-angiotensin. In conclusion, some differentially dysregulated genes and modulated pathways were identified which warrant further investigation in the setting of premature hypertension and CHD. 
 

Abstract:

Salma Ahmadloo completed her PhD the field of Human Genetics at University Putra Malaysia, currently she is postdoctoral fellowship at Shahid Beheshti University, Iran. She is an experienced senior researcher with a demonstrated history of working in higher education industry, skilled in gene expression profiling, PCR array technique, real time PCR and Genotyping.
 

  • Immunogenetics | Thalassemia | Genetic Diseases | Human Genetics | Nutrigenomics | Human Evolutionary Genetics | Pharmacogenomics and Pharmacogenetics | Regenerative Medicine | Genetic Counseling | Neurogenetics | Epigenetics | Behavioural Genetics

Session Introduction

Mohammed Chyad Hammoodi Al-Noaemi

Al-Ghad International College for Applied Medical Sciences, KSA

Title: A family cases report of tyrosinemia type-1 from Najran province of Saudi Arabia

Time : 12:00-12:30

Biography:

Mohammed Chyad Hammoodi Al-Noaemi has completed his Ph.D. from University of Newcastle upon-Tyne (UK) in Physiology. Then after, he was involved in teaching physiology in more than 30 medical and paramedical colleges in Iraq, Sudan, Jordan, and Saudi Arabia. Currently, he is a professor of physiology in Al-Ghad International College in Najran-KSA. He has published about 50 papers in reputed journals.
 

Abstract:

Tyrosinemia-1 is a very rare and severe inborn metabolic disorder affecting about 1 in 100,00 to 120,000 births worldwide. The pathophysiology of the disease is explained by the subsequent accumulation of tyrosine and its toxic metabolite in blood and tissues causing dysfunction of these organs, affecting mainly the liver and the kidney. The patient may develop acute liver failure in early infancy. The untreated survivors of the acute failure show liver cirrhosis, renal tubulopathy, rickets and hepatocellular carcinoma. The diagnosis of the disease depends on the clinical features and biochemical tests as detecting an increase in tyrosine and its metabolites in blood and urine. The main aim of this study was first; to report for the first time a family case of tyrosinemia in Najran city, the southern province of Saudi Arabia (KSA). Secondly; to increase the social and medical community awareness of the disease as consanguineous marriages are very common in this area.  

Budoor Alqarni

MGI Tech Middle East- DMCC, UAE

Title: Genome sequencing by MGI

Time : 12:30-13:00

Biography:

Budoor Alqarni is an Application Scientist at MGI. Budoor Alqarni has completed her PhD from the University of New South Wales, Australia in the field of Molecular biology. She did her Master of Science in Medicine in Infectious disease and Immunity from the University of Sydney. Budoor Alqarni has extended working experience Clinical diagnostic, Scientific research and Technical Support.
 

Abstract:

Zeinab Deris Zayeri

Ahvaz Jundishapur University of Medical Sciences, Iran

Title: A novel infram deletion in MSH6 gene in glioma: Conversation on MSH6 mutations in brain tumors

Time : 14:00-14:30

Biography:

Zeinab Deris Zayeri has completed her Msc in Human Genetic from Genetic department, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. She is the Head of Clinical Labratory in Ahvaz. She has published more than 20 papers in reputed journals and has been serving as an Editorial Board Member of Cancer Research Journal.
 

Abstract:

Background & Aim: Histological and molecular information and biopsy help in the diagnosis of the type and grade of tumors and increase the value of estimation of the biological behavior of tumors. In this study, we aim on a consanguineous Iranian family with high prevalence of brain tumors in their pedigree and reviewed the literature on MSH6 mutations in brain tumors and the treatment responses focused on gliomas. Method: We chose a family with a high prevalence of brain tumor in their pedigree. We studied the proband's neuroimaging and brain proton Magnetic Resonance Spectroscopy (MRS), Magnetic Resonance Imaging (MRI), biopsy result and whole genome sequencing. Result: The neuroimaging and brain proton MRS reported a lesion in the right frontoparietal. The MRI revealed a large enhancible heterogenous mass in the right temporo‐fronto‐parieto‐occipital lobes with involvement of corpus callosum which was suggestive of glioma. The patient revealed a homozygous pattern for a novel 9 base‐pare deletion at the 912-914 codon on exon 4 of the MSH6 gene. Discussion: We discuss several studies on MSH6 mutations in brain tumors and we discuss treatment responses in MSH6 mutations and the studies conducted to sensitize chemotherapy and radiotherapy resistance brain tumors to face this subject efficiently. Conclusion: Patients should be evaluated for MMR mutation before chemo and radiotherapy, and it is valuable to follow‐up these mutations during the treatment too. In Temozolomide (TMZ)‐resitance cases, it is suggested to use complementary strategies such as using HDAC is and a combination of a STAT3 Inhibitor and an mTOR inhibitor, BER inhibition mechanism and PARP‐1 inhibitor. The highlights of this study are central nervous system tumors are rare and they are responsible for approximately 20-30% of cancer morbidity in children and youngsters, Mismatch Repair (MMR) mutations and mutations in the DNA‐repair system are probably related to tumor progression and chemo and radiotherapy resistance, germline mutations of MSH6 increase the susceptibility to gliomas and somatic mutations cause temozolomide (TMZ)‐resistance manner, inhibition of NAD+ biosynthesis increases the expression of MGMT and this can support the deficiency of MMR proteins. Making a connection between the genetic profiles and the evolved pathways and therapeutic approaches enhance our vision in estimating the results beyond treatment.
 

Fawz ALHarthi

King Saudi Medical City, Saudi Arabia

Title: Attitudes toward pre-implantation genetic diagnosis vs. pre-natal diagnosis in Saudi Arabian couples with children with genetic disorders

Time : 14:30-15:00

Biography:

Abstract:

Manisha Mishra

All India Institute of Medical Sciences, India

Title: Association of MMP2 gene polymorphisms (-735C/T and -1306C/T) in preeclamptic patients in Indian population

Time : 15:00-15:30

Biography:

Manisha Mishra had completed Bachelor of Dental Surgery and MSc Anatomy from All India Institute of Medical Sciences, New Delhi, India. She is currently a Senior Reseach Fellow at All India Institute of Medical Sciences, India.
 

Abstract:

Background & Aim: Imbalanced Matrix Metalloproteinase (MMP) expression, including MMP-2, has been demonstrated in pre-eclampsia. However, little is known about the effect of MMP-2 gene polymorphisms on hypertensive disorders of pregnancy. Therefore, we examined Matrix Metalloproteinase (MMP-2) gene polymorphisms (g.-735C/T) and its association with Preeclampsia (PE) and measured the levels of MMP-2 serum concentrations in PE. Method: 30 preeclamptic and 30 healthy pregnant women were enrolled from department of obstetrics and gynaecology, AIIMS, New Delhi after getting approval from Institute ethical committee. Genomic DNA was extracted from blood and amplified by PCR. MMP2 gene polymorphisms of -735C/T was detected by Restriction Fragment Length Polymorphism (RFLP). The levels of MMP2 in sera were measured by ELISA. Result: The maternal serum MMP2 levels was found to be more in PE patients than in control group (p=0.03). The increased frequency of CT genotype for MMP2 (-735C/T) Single Nucleotide Polymorphism was seen in PE patients as compared to control group. However the difference in genotype frequency was not statistically significant (p=0.35). Conclusion: These findings may help to understand the relevance of MMP-2 and its genetic polymorphisms to the pathophysiology of hypertensive disorders of pregnancy like preeclampsia and IUGR. 

Nada Abuarab

King Saud Bin Abdul-Aziz University for Health Sciences, Saudi Arabia

Title: High glucose–induced ROS activates TRPM2 to regulate organelle zinc homeostasis and mitochondrial fragmentation

Time : 16:00-16:30

Biography:

Nada Abuarab has completed her MSc in Bioscience and PhD in Philosophy from School of Biomedical Sciences, University of Leeds, UK. She is currently working as an Assistant Professor in Basic Science Department, King Saud Bin Abdul-Aziz University for Health Sciences, Saudi Arabia. She has also obtained a second Master’s degree in Medical Education form College of Medicine, King Saud Bin Abdul-Aziz University for Health Sciences.
 

Abstract:

Mitochondria plays a central role in oxidative stress induced cell death. By increasing the production of reactive oxygen species, such as H2O2, oxidative stress causes mitochondrial fragmentation and apoptosis. Mechanisms by which oxidative stress leads to apoptosis, however, are not fully understood. Here we hypothesised that Transient Receptor Potential Melastatin 2 (TRPM2) channels play a role in mitochondrial fragmentation. The rationale behind this is the previous evidence that TRPM2 channels are activated by H2O2 and conduct ions (Ca2+ and Zn2+) that affect mitochondrial health and cell survival. To test our hypothesis we have used live-cell imaging, immunostaining, biochemical techniques and cell death assays. Exposure of Human Umbilical Vein Endothelial Cells (HUVECs) to H2O2 led to an increase in Zn2+ levels in the mitochondria and a reduction in lysosomes. This redistribution was accompanied by an extensive fragmentation of mitochondria and an increase in cell death. Silencing of TRPM2 channel prevented intracellular Zn2+ redistribution, mitochondrial fragmentation and cell death. TRPM2 activation increased recruitment of Dynamin-Related protein 1 (Drp1) to mitochondria, thereby increasing mitochondrial fission. Moreover, the data indicated that TRPM2 is expressed in lysosomes presumably to mediate Zn2+ release. Endothelial cells derived from TRPM2 knock-out mice were resistant to oxidative stress-induced mitochondrial fragmentation. In conclusion, our data revealed a novel mechanism where H2O2 activation of TRPM2 causes a redistribution of Zn2+ from lysosomes to mitochondria, resulting in mitochondrial fragmentation and endothelial cell death. Since mitochondrial fragmentation is associated with several age-related chronic illnesses including neuronal (Alzheimer’s, Parkinson’s), cardiovascular (atherosclerosis, myocardial infarction) and metabolic/inflammatory (diabetes) disorders, our results reveal TRPM2 channel as potional therapeutic intervention of age-related illnesses. 

Mavlyanova Shakhnoza Zakirovna

Ministry of Health of the Republic of Uzbekistan, Uzbekistan

Title: The role of the polymorphic variant of the IIe 105Val genes of the GSTP1 in the mechanism of the development of allergic skin diseases in Uzbekistan

Time : 16:30-17:00

Biography:

Mavlyanova Shakhnoza Zakirovna received Doctor of Medical Sciences degree at the Higher Attestation Commission under the Cabinet of Ministers of the Republic of Uzbekistan. She is the Head of the Scientific Department of Dermatology of the Republican Specialized Scientific and Practical Medical Center of Dermatovenereology and Cosmetology, Ministry of Health of the Republic of Uzbekistan. She is a Member of the Association of Dermatovenereologists and Cosmetologists of the Republic of Uzbekistan and the European Academy of Dermatovenerologists. She has published over 300 articles in well-known journals, has 7 patents for inventions, 5 monographs and is also a Member of the Editorial Board of the Journal of Dermatovenereology and Cosmetology of Uzbekistan.
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Abstract:

Aim: It is the study of polymorphism of genes of enzymes of biotransformation of xenobiotics in patients with allergic skin diseases. Material & Methods: Patients with allergic dermatoses (AlD), DNA samples of patients and healthy donors, glutathione-transferase GSTM1 (1p13.3), GSTT1 (22q11.2) and IIe 105Val genes of the GSTP1 gene were the object and subject of the study. The study included 88 patients with AlD age ranging from 5 to 67 years. Of these, 41 are women, 50 are men. The diagnosis in all patients is confirmed by the results of the clinical examination and laboratory tests. Results: Among patients with allergic dermatoses, individuals with combined functionally inferior genotypes GSTM10/0+GSTT10/0 were more common than in the group of healthy individuals (6.8% vs. 4.1%, respectively, χ2=0.5; P=0.4; OR=1.7, 95% CI 0.405-6.979). The obtained data indicate that in individuals with zero genotypes of genes of xenobiotic enzymes GSTM1 and GSTT1 there is a tendency to the risk of allergic dermatosis development. Whereas, with the combined variants of zero and functional genotypes of polymorphism of the GSTM1 and GSTT1 genes, there were no statistically significant differences between the groups studied (p>0.05). While the frequency distribution of the occurrence of alleles and genotypes of GSTP1 in the group of patients with allergodermatosis, in comparison with the control group, significant differences were found. The functionally unfavorable allele G of the GSTP1 gene was 3.4 times statistically significantly more prevalent in the studied chromosomes of allergic dermatoses than in the population sample (χ2=10.8; P<0.05; OR=3.4; 95% CI 1.6-7.4). The associations of functionally unfavorable A/G genotypes were identified (χ2=6.9, P<0.05, OR=2.6, 95% CI 1.264-5.382) and G/G (χ2=8.0; P<0.05; OR=11.2; 95% CI 1.421-88.43) with the development of allergic dermatoses. Conclusion: Genes of glutathione transferase, polymorphism IIe 105 Val of the GSTP1 gene is the most significant marker of an increased risk of allergic skin diseases in Uzbekistan.