Scientific Program

Conference Series LLC Ltd invites all the participants across the globe to attend 2nd International Conference on Cell and Gene Therapy Paris, France.

Day 1 :

  • Human genomics
Location: Paris, France
Speaker
Biography:

Neveen has completed her PhD at the age of 27 years from Ain Shams University and postdoctoral studies from Oldenburg University, Germany. She is the director of training and development center, Ain Shams University. She has published more than 10 papers in reputed journals and has been serving as an editorial board member of Human Medical Genetic Journal.

Abstract:

Autism Spectrum Disorders (ASD) is a heterogeneous neurodevelopmental disease, various articles reported that dysfunctional folate-methionine pathway enzymes might assume a paramount part in the pathophysiology of autism. Methylenetetrahydrofolate Reductase (MTHFR) is a basic catalyst for this pathway, also MTHFR C677T polymorphism accounted as a risk factor of autism. Objective: The present study aimed to investigate the association of MTHFR rs1801133(C677T) polymorphism among Egyptian autistic children. Methods: The study included 78 autistic children, and 80 matched healthy control children. Full clinical and radiological examinations were conducted. MTHFR polymorphism rs1801133(C677T) was studied by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods followed by direct sequencing technique. Results: MTHFR (C677T) allele frequency was found to be higher significantly in ASD cases compared with nonautistic children. Also, we had a higher distribution of combined CT+TT genotypes among autistic patients with consanguinity and family history of psychological disease. In Gastrointestinal tract (GIT) and sleep disorders showed a higher distribution of hetero CT genotype as well as combined CT+TT genotypes. Conclusion: This study demonstrated a role of MTHFR(C667T) polymorphism with the increased risk for Autism Spectrum Disorders (ASD).  

  • Cancer Genomics
Location: Paris, France

Session Introduction

Engy A. Ashaat

National Research Centre, Clinical Genetics Department, Egypt

Title: Achievement and Experience in Multiple Congenital Anomalies Syndromes
Speaker
Biography:

Engy A. Ashaat has completed her PhD at the age of 29 years from Ain Shams University. She is the director of Multiple Congentil Anomalies Clinic. She has published more than 10 papers in reputed journals and has been serving as a reviewer in Molecular Gebetics and Genomic Medicine Journal. She has been contributed in many international scientific projects e.g. NIH – USA and Germany.

Abstract:

A congenital anomaly is defined as a structural defect, present at birth. These anomalies can be further divided into major anomalies that require medical and surgical care (eg, congenital heart defect, cleft palate, meningomyelocele) and minor anomalies that do not have medical significance (eg, single palmar crease, epicanthal folds, fifth digit clinodactyly). An estimated 303 000 newborns die within 4 weeks of birth every year, worldwide, due to congenital anomalies. However, Malformations can cause >20% of neonatal death. diagnosis of MCA and proper counseling could affect prognosis and reduce the risk of recurrence. Only a few common MCA syndromes are life-threatening in the neonatal period. Causes of MCA syndromes include chromosomal abnormalities, monogenic disorders, multifactorial disorders, and unknown. Objectives : Diagnoses of the MCA syndromes for proper prenatal follow up and reduce recurrent risk In next pregnancy. Methods : Cytogenetics studies including (karyotype,FISH, MLPA, array CGH), Molecular Study including Sanger Sequencing and NGS, Whole Exom Sequencing (WES) , Whole Genome Sequencing (WGS). Results : MCA Cases from (2015 to 2019). 790 cases with multiple congenital anomalies were referred for the MCA Clinic of the Center of Excellence Cytogenetics results: Conventional and FISH results: showed chromosomal aberrations (29.6%) MLPA: were +ve (14.3%). rCGH : were postive (38.5%) Molecular results: Sanger sequencing: were +ve (25%) NGS: +ve (52.2%) WES: 10 cases WGS: one case

 

  • Pharmacogenomics
Location: Paris, France
Speaker
Biography:

Dina Saeed, senior researcher in children cancer hospital 57357 (CCHE), Egypt, has two years’ experience in immunology and genetic research and five years’ experience as senior clinical pharmacist in CCHE. She graduated with bachelor degree from faculty of pharmacy Cairo university in 2013 and now pursuing a master's degree of pharmacy in microbiology and immunology field. She had Extensive knowledge of Tumor Immunology research and strong educational background in Immunology, supported by field research and professional work experience in Oncology. She followed post-graduate courses in immunology and genetics. 

Abstract:

Voriconazole is a second-generation triazole antifungal with broad-spectrum activity against Aspergillosis, metabolized mainly by CYP2C19 in the liver. Despite the use of weight-based dosing, plasma voriconazole blood levels show inter-individual variability, which is attributed to many factors such as weight, age, food, drug interactions, and CYP2C19 polymorphism. Voriconazole metabolism in pediatrics has been reported to be profoundly impacted by CYP2C19 genotypes. 
Aim: To evaluate the frequencies of CYP2C19 variant alleles (*2, *3, and *17), genotypes, and phenotypes in Egyptian pediatric cancer patients and to investigate the correlation between CYP2C19 genetic variability and other factors with voriconazole plasma levels.
Methods: This study was conducted on 100 pediatric cancer patients with probable fungal infection treated with voriconazole. DNA was extracted from blood samples and analyzed by the TaqMan SNP genotyping assay. Identified genotypes were classified accordingly into various predicted phenotypes.
Results: Voriconazole plasma levels widely varied, with only 49.5% reaching therapeutic levels. Frequencies of CYP2C19*2 and *17 allelic variants were 10.6 and 18.3%, respectively, while allele *3 was not detected in the study population. A significant correlation was found between plasma levels and CYP2C19 phenotypes: ultra-rapid metabolizers had statistically significantly lower plasma levels (P=0.003) relative to the extensive metabolizer genotype.
Conclusion: Determination of CYP2C19 genotype at initiation of therapy, followed by drug monitoring, would serve as a valuable tool for the optimization of voriconazole therapy for pediatric cancer patients. It would also be an essential step in advancement of precision medicine to optimize therapeutic efficacy and minimize toxicity. 
 

  • Plant Genomics and Molecular Plant Sciences
Location: Paris, France

Session Introduction

Xavier Greg I. Caguiat

Philippine Rice Research Institute, Philippines

Title: Next-Generation Sequencing Technology Towards Gene Discovery of a Philippine Rice Germplasm
Speaker
Biography:

Xavier Greg I. Caguiat has completed his Masters of Science in Molecular Biology and Biotechnology with minor in Plant Breeding and his Bachelor of Science in Biology major in Genetics both from the University of the Philippines at Los Baños. He currently leads several projects and studies under the Genetic Resources Division and the use of molecular markers, next-generation sequencing coupled with bioinformatics to expedite and elucidate the hidden genes from the vast rice germplasms are some of his research interests. He has presented more than 30 papers in reputed scientific conferences and published papers in journals.
 

Abstract:

Rice importance is paramount to survival of almost half of the world population. Climate change affect this basic commodity in life-threatening magnitude and we need all the help we can get-fast. Genebank remains a depository of novel traits and genes over the past decades. Latest problems needs these ‘reserve germplasm’ to be explored and forward to breeding programs. Next generation sequencing (NGS) technology could hold the key to maximize the discovery of traits and genes coupled with bioinformatics. Thus, this study aimed to use NGS technology to elucidate some of the genes present in one of the most commonly used rice germplasm Collection 12808 or commonly “Malay 2”.  A total of 4480 gene-specific single nucleotide polymorphism (SNPs) were discovered in Malay 2. One thousand three hundred fifty-four SNPs for abiotic stress-tolerance/resistance and 3126 SNPs for biotic stress resistance. Blast resistance genes topped the number of gene-specific SNPs with 2888 while the least was with salinity tolerance with six SNPs. On one hand, locus Os02g0162200 dominates the number of SNPs for cold tolerance while loci Os12g0617000 and OsNippo12g248350 dominates the drought tolerance SNPs, while Os03g0332400 dominates the salinity tolerance genes. On the other hand, OsNippo05g098200 dominated the gene-specific SNPs for bacterial blight resistance, OsNippo08g069150 for blast resistance, and LOC_Os05g16200 and OsNippo07g216600 for RTSV resistance. NGS coupled with a working database would lead to a genome-wide elucidation of the genes that a promising rice genebank germplasm could possess. The results could provide insights the usefulness of rice germplasm in breeding programs.

  • Plant genomics
Location: Paris, France

Session Introduction

John Oscar S. Enriquez

Philippine Rice Research Institute,Philippines

Title: Genome-wide Association Study of Yield-Related Agronomic Traits in Philippine Rice Germplasm
Speaker
Biography:

John Oscar Enriquez is a graduate of University of the Philippines Mindanao. He is currently a scientific researcher in Philippine Rice Research Institute under the Plant Breeding and Biotechnology Division. His research interests lie on molecular biology, genetics, biostatistics, and bioinformatics and their applications for rice varietal development and improvement. 

Abstract:

Improving rice yield has always been one of the vital aspects for varietal improvement development. As a complex trait, it is controlled by different components and Philippine rice germplasm have huge untapped potential as genetic sources for improving production levels. We performed genome-wide association (GWA) for yield related traits in rice using an assembled diversity panel consisting of 250 modern and traditional Philippine rice varieties. The panel was evaluated for plant height (Ht), tiller number (Tn), panicle length (Pl), panicle primary (Pb) and secondary branching (Sb), grain number (Gn), fertility (Fert), grain length (Gl), grain width (Gw), and thousand grain weight (Tgw) from 2017 Dry Season (DS) to 2018 Wet Season (WS). Best Linear Unbiased Predictions (BLUPs) were computed separately for DS and WS cropping seasons and also for the overall performance of entries. Using genotyping-by-sequencing (GBS), 334,473 high quality SNP markers were discovered among the panel and used for downstream analyses. GWA was performed using FaST-LMM (factored spectrally transformed linear mixed models) with correction for population structure using principal component analyses (PCA). GWAS led to multiple associations for the evaluated traits across different chromosomes and discovered 8 putative QTLs for Ht, 2 for Tn, 4 for Pl, 1 for Pb, 2 for grain number, 3 for Fert, 4 for Gl, 1 for Gw, and 4 for Tgw. The candidate genes were reviewed and investigated in silico. QTLs and genes found in identified rice varieties can be utilized in different breeding programs to improve overall rice production. 

  • Cell therapy
Location: Paris, France
  • Gene therapy
Location: Paris, France

Session Introduction

Blanca Estela Chávez Sandoval

Professor, Universidad Autónoma Metropolitana , Mexico

Title: Gold nanoparticles (AuNPs) and their interaction whit DNA for use in Gene Therapy
Speaker
Biography:

Chávez-Sandoval BE, is a Research-Professor in the Universidad Autónoma Metropolitana (UAM). She has teach at the main public and private universities in Mexico like IPN, UACM,UAM, UNAM, among others, she has received numerous awards and distinctions such as the UAM academic merit medal for excellence in her doctoral studies; she participates as a referee of scientific journals like ContactoS UAM, Mundo Nano UNAM, Journal of Nanoparticles & Nanotechnology (helicsgroup.net).CA, USA, Dr. Chavez-Sandoval's research lines are mainly about nanoscience and nanotechnology linked to ecology and genetics (gene therapy, cytotoxicity) and optimization of cell cultures with nanoparticles biosynthesized.

 

Abstract:

Statement of the Problem: the treatment of genetic diseases by means of gene therapy, requires many conditions to be fulfilled. Among these conditions, the type of transfection vehicle is of primordial importance. The transfection vehicle must meet special characteristics such as protects DNA from degradation, it must have specific surface charge and easy load release. Gold nanoparticles (AuNPs) have been studied in nanomedicine for gene therapy showing promising results, especially when they are provided with specific polymers to avoid degradation of the genetic material.

In this research AuNPs with chitosan, a biodegradable biopolymer, were used as DNA carriers. Their interaction with plasmid DNA was measured by electrophoresis. Zeta sizer was used to evaluate their surface charge and its optical absorption coefficient was also directly measured by photoacoustic techniques.

Conclusion & Significance: The feasibility of photoacoustic techniques to directly measure the optical absorption coefficient (β) of colloidal suspensions of gold nanoparticles was demonstrated, these values were compared with the corresponding ones obtained indirectly through absorbance measurements.

The stability of complexes formed with gold, chitosan and plasmid DNA nanoparticles, and their adhesion strength was demonstrated by electrophoresis. A correlation was observed between the amount of chitosan in the nanocomplexes and their ability to integrate into the plasmid DNA itself. It is recommended to deepen the study of the retention capacity of plasmid DNA, due to the correlation observed regarding the amount of chitosan-DNA.

 

  • Stem cell therapy
Location: Paris, France
Speaker
Biography:

Tongri Liu (Tony) has completed his Ph.D. at the age of 27 years from University of Oxford, UK and Senior Research Scientist from ALLIFE Medicine Science and Technology Co. Ltd.. He is the director of ALLIFE Medicine UK Branch and Subsediary Companies and the representative of ALLIFE Medicine Science and Technology Co. Ltd., a Chinese Pharmaceutical Company specialised in iPSc derived cell and gene therapies. He has helped established the ALLIFE Medicine UK Branch and Subsediary Companies and is leading the clinical trial application with the MHRA in the UK for both iPSc-EPC and iPSc-Islet projects.

Abstract:

Endothelial injury plays an important role in the pathophysiological process of Atherosclerosis (AS) and restenosis after angioplasty. Accelerating the repair of endothelial injury can effectively inhibit smooth muscle cells proliferation and intimal hyperplasia, thus preventing atherosclerosis and restenosis after angioplasty. Endothelial progenitor cells (EPC) are precursors of endothelial cells, which can be directed to differentiate into endothelial cells. Endothelial progenitor cells (EPC) are involved in the repair of endothelial injury.

The limited EPCs extracted from peripheral blood often cannot reach the clinical dosage. In this study, the technology for reprogramming induced pluripotent stem cells (iPSc), developed in Allife Medicine based on the Yamanaka factors, was adopted. Somatic cells can be reprogrammed into iPSc by importing specific transcription factors, including Oct4, Sox2, c-Myc and Klf44 (also called Yamanaka factor), which can effectively induce somatic cells into stem cells, namely the iPSc. That is to say, the reprogramming technology has enable us to “initialise” somatic cells to regain stem-cell functions, giving iPSc similar functions as embryonic stem cells, which can, in theory, be differentiated to any tissues, in cluding EPC, without creating an embryo. The iPSc reprogramming technology, giving iPSc the ability of almost infinite proliferation, plus the technology of differentiating iPSc to EPCs, will fundamentally conquer the problem of insufficient cell numbers needed for clinical use. In addition, personalized iPSc-EPC products also provide IS patients the autologous treatments, likely resulting in lower risk and better efficacy of the therapy.

 

  • Gene therapy for diseases
Location: Paris, France
Speaker
Biography:

Sabrina Paillé is a Senior Medical Director in the Clinical Development Department within Audentes Therapeutics, an Astellas company. She completed her Medical Degree at age 23 from the M. Mammeri University of Medicine, in Algeria. Sabrina has over 20 years of experience in pharmaceutical industry working in rare neuromuscular disorders (SMA, XLMTM, DMD and Pompe Disese), with extensive knowledge in the application of antisense oligonucleotides and AAV-based gene therapy to treat genetic diseases.

 

 

Abstract:

XLMTM, caused by mutations in the MTM1 gene, is characterized by muscle weakness, respiratory failure, and early death. ASPIRO is an ongoing, open-label, randomized study (NCT03199469) evaluating safety/efficacy of AT132, an investigational gene therapy for delivery of functional MTM1 gene copies. XLMTM patients, £7 years-old, were randomized to treatment or delayed-treatment control and enrolled into ascending dose cohorts to receive a single AT132 infusion. Data are available for 12 patients (4–72 weeks’ follow-up): 6, Cohort 1 (1x1014vg/kg); 4, Cohort 2 (3x1014vg/kg); 2, untreated controls. Muscle biopsy data are available for 9 treated patients: 6, Cohort 1; 3, Cohort 2. Since study initiation (Sep17) there were 82 AEs considered related/possibly related (14 serious AEs; 68 non-serious) as of 7Aug19. At baseline, all patients required 12–24 hrs/day ventilatory support, and missed critical motor milestones. Clinically meaningful changes from baseline in CHOP-INTEND and MIP scores were observed in all but one treated patient. Treated patients also achieved important motor milestones. There was significant and rapid reduction in ventilatory use in all but one treated patient, with 7 treated patients reaching ventilatory independence. These improvements contrast with controls in whom gains of motor skills and achievement of ventilator independence were not observed. Muscle biopsies demonstrated robust dose-dependent tissue transduction and myotubularin expression with considerable improvement in histopathology. AT132 has shown manageable safety profile across dose cohorts. Clinically meaningful improvements in neuromuscular and respiratory function continue through 72 weeks post-dose. An optimal dose (3x1014vg/kg) has been selected for the study’s confirmatory phase.

 

  • Genetics
Location: Paris, France
Speaker
Biography:

Islet gene expression has been widely studied to better understand the transcriptional features that define a healthy beta cell. Transcriptomes of FACS-purified alpha, beta, and delta cells using bulk RNA-sequencing have facilitated our understanding of the complex network of crosstalk between islet cells and its effects on beta cell function. However, these approaches were by design not intended to resolve heterogeneity between individual cells. Several recent studies used single cell RNA-sequencing (scRNA-Seq) to report considerable heterogeneity within mouse and human beta cells. In this perspective, we assess how this newfound ability to assess gene expression at single cell resolution has enhanced our understanding of beta cell heterogeneity. We conduct a comprehensive assessment of several single human beta cell transcriptome datasets and ask if the heterogeneity reported by these studies showed overlap and concurred with previously known examples of beta cell heterogeneity. We also illustrate the impact of the inevitable limitations of working at or below the limit of detection of gene expression at single cell resolution and their consequences for the quality of single islet cell transcriptome data. Finally, we offer some guidance on when to opt for scRNA-Seq and when bulk sequencing approaches may be better suited.

Abstract:

Alex M Mawla is a graduate student in the Integrative Genetics & Genomics (IGG), PhD program at University of California, Davis, USA. He realized his passion in combining translational health research with computational biology after graduating with a Neurobiology, Physiology & Behavioral Science, and minor in Quantitative Biology & Bioinformatics from Davis.

 

  • Epigenetics
Location: Paris, France

Session Introduction

Iftikhar Qayum

Rehman Medical Institute, Pakistan

Title: Epigenetic interventions for control of malignancy: an overview
Speaker
Biography:

Ever since epigenetic pathways were discovered as one of the major gene control mechanisms, researchers have hoped that this approach will prove to be the cornerstone of therapy for control, prevention, and eradication of malignant diseases, as well as the cancer genotype. Research has been hampered for technical reasons, as well as the lack of precisely targeting specific genes of interest in living cells. In recent years, though, both of these hurdles have been significantly overcome, thereby offering the possibility of a breakthrough in the fight against cancer. It has been conclusively shown that hallmark epigenetic alterations (aberrant methylation patterns) in cells may precede malignant transformation and in fact may promote the development of the cancer genotype by altered gene expressions, dysregulation, and mutations. Such discoveries have led to a crucial role for epigenetic markers as important components of the toolkit for early cancer diagnostics and prognostics.

This paper will present a brief overview of the significant milestones in epigenetic research, as well as the more recent attempt to provide targeted interventions based on recently developed focused systems. The gamut of epigenomic interventions range from epigenomic drugs through RNA interference to specific guided methylation reprogramming based on CRISPR and similar DNA editing systems. Though initial results of planned interventions border on success rates around a limit of 50% reduction in predicted cancer targets, the promise of improved successful yields based on integration with personalized precision medicine are emerging, as more useful knowledge is gained from high throughput genomic studies and database analyses.

Abstract:

Iftikhar Qayum is a Medical Doctor with a keen interest in Human Genetics and Cancer Research. In addition to medical qualifications (MBBS, MD), he also holds a PhD in Biology (Genetics) from Quaid-i-Azam University, Islamabad, Pakistan. His focused area of interest is epigenetic mechanisms affecting cancer biology and epigenetic control of transformed and malignant cells. Currently he is the Director of Medical Research at Rehman Medical Institute (RMI), Peshawar, Pakistan, where he developed undergraduate and Faculty Research Programs. He is Managing Editor of two scientific journals and Founding President of Genomics Society.

  • Plant science
Location: Paris, France
Speaker
Biography:

Dissemination and adoption of developed rice varieties are crucial in order to achieve self-sufficiency and security in rice-dependent countries. In the Philippines, different farmers’ varieties (FV) are being planted across different regions which may either came from seed exchange between farmers and from commercially available released varieties (RV). This study aim to characterize the farmers’ varieties to identify the authenticity and duplicity of these lines to RV; A total of 350 FV were collected at farm-level and were genotyped using 7 K Cornell-IR Rice LD Array along with RV. Genotyping results revealed that 110 FV had at least 95% genetic similarity with 42 commercially released varieties. Majority of the farmers’ varieties were either identified as or closely related to famous released varieties PSB Rc 10, PSB Rc152, NSIC Rc 222, NSIC Rc 240, NSIC Rc 286, NSIC Rc 294, NSIC Rc 328, and NSIC Rc 422. Diversity analyses revealed narrow genetic diversity among FV and RV with an average of 77.72% pairwise similarity. Average marker genotyping statistics supported the findings: major allele frequency (MAF) of 0.814, gene diversity of 0.258, and heterozygosity of 0.074. Furthermore, phylogenetic analyses and Bayesian population structure modeling revealed closely clustered genotypes and subgroupings among the RV and FV. Established genetic identity of the FV has proven the adoption of RV which will aid in solving the shortcomings in the seed supply chains. In addition, genetic analyses emphasized the urgent need of diversification in breeding in order to improve performance and resilience.

Abstract:

Joanne D Caguiat is a Senior Science Research Specialist at Philippine Rice Research Institute (PhilRice). She has completed her Master of Science in Plant Breeding at the University of the Philippines, Los Baños. Currently, she is the Lead in four projects which aim to develop CMS-based three-line rice hybrids, augment line and varieties using RGA and genomic selection and gene mining of yield-related traits in Philippine landraces.

  • Stem Cells
Location: Paris, France
Speaker
Biography:

Clélia Rejane Antonio Bertoncini is Associate Professor at the Federal University of São Paulo (UNIFESP), Brazil, since 1998. She received her Bachelor Science and Master degree titles in Chemistry from the Federal University of Santa Catarina (UFSC). She obtained her Ph. D. in Biochemistry from the University of São Paulo (USP) and did Postdoctoral work at USP in collaboration with the National Synchrotron Light Laboratory (LNLS). Her research are focused on oxidative stress, DNA damage, antioxidant and antiapoptotic mechanisms, and application of stem cells as therapy for diseases associated with infertility and neurodegeneration.

Abstract:

Stem cell transplantation is a promising therapy, which could provide trophic support for survival, migration, and differentiation of endogenous precursor cells. The action of these cells after transplantation is not only to repopulate the injured area, but mainly to secrete neurotrophic and proliferative factors which could induce recovery of tissue. Stroke Prone Spontaneously Hypertensive Rat (SHRSP) exhibits a hippocampal damage, which can fully recovered after transplantation of MSCs. As previous works, such tissue regeneration take place whereas apoptosis, superoxide and lipid peroxidation were reduced to normal levels. The objective of this work is to investigate if transplanted MSCs could be involved in proliferation and maintenance of neural cells by elevation of the levels of nitric oxide (NO), expression of vascular endothelial growth factor (VEGF) and antiapoptotic protein Bcl-2. A comparison of the brain tissue isolated from SHRSP treated or not with MSCs with those from normotensive Wistar Kyoto (WKY) controls were carried out by qPCR, immunohistochemistry and biochemistry assays. MSCs were obtained from the femur and tibiae of 12-week-old WKY rats, labeled with CFSE and injected into cistern magna of 48-week-old SHRSP rats. One month after transplantation, we observed an increase of almost threefold of VEGF expression in the MSC-treated SHRSP group, thereby suggesting that transplanted stem cells have an angiogenic potential. Correlated data were obtained in terms of elevation of generated NO and antiapoptotic Bcl-2 gene expression. Thus, our results suggest that BM mesenchymal stem cells exhibit antioxidant, antiapoptotic and angiogenic properties, which can contribute to the recovery of brain damage when these cells are used in stroke therapy.

  • Genomics
Location: Paris, France
Speaker
Biography:

Leen Abu Safieh has completed her PhD in Human Molecular Genetics from the Institute of Ophthalmology, UCL, London, UK in 2003. She had a Master’s degree in Biomedical Sciences from Westminster University, London, UK. She has over than 15 years of experience in the field of Molecular Genetics. Her research resulted in the identification of seven novel genes all involved in different retinal diseases, and all been published in high impact factor journals. Her main area of research is focused on inherited genetic diseases such as ophthalmic conditions and other complex genetic disorders. Currently she is working as a Clinical Research Consultant, at King Fahad Medical City Research Center, Saudi Arabia.

Abstract:

Background: Inherited retinal dystrophies (RD) are common cause of blindness which is characterized by loss of photoreceptor function; it contributes significantly to the global etiology of blindness especially in the industrialized world. Clinically and genetically, retinal dystrophies are known to be extremely heterogeneous. This kind of heterogeneity poses a major diagnostic challenge and makes it difficult to provide a molecular diagnostic protocol which can improve counseling and development of gene-specific treatment strategies. The Saudi population is a highly consanguineous population with many patients requesting genetic testing to identify the type of retinal dystrophy and understand the inheritance pattern in their family. Once the pathogenic mutation is identified, it is possible to identify carries and patients at risk of developing the condition in these families. Retinal dystrophies can be inherited in different patterns, however due to the nature of the Saudi population autosomal recessive is the major form of inheritance in this community. This study will aim to characterize the genetic cause underlying the syndromic and non-syndromic retinal dystrophy and use the data to understand the disease mechanism and develop genetic screening, counseling and prevention protocols.

 

Methodology: Patients were clinically evaluated in the ophthalmic clinic at KFMC, Princes Nora general hospital and Al Habib Hospital. Patients diagnosed with retinal dystrophy were consented and blood was collected from all available affected individuals and family members. DNA was extracted and used for whole exome sequencing following the standard protocol. Genomic variants were annotated using the ion-reporter exome analysis pipeline. To date 54 individuals representing 21 families has been recruited to this study; 12 of these were subjected to exome sequencing.

 

Results & Conclusion: On average 35,000 variants have been identified in each individual sequenced. Analysis filtration was performed mainly against the following criteria: homozygosity, variant location and pathogenicity likelihood. On average 10-15 variants remained in each individual. This number was reduced significantly when analyzed against the known genes involved in retinal disease. We have identified six mutations in known genes (RP1, ABCA4, RPA2, TULP1 and BBS1); further experimental validation is required to establish variant pathogenicity.

  • Viral gene therapy
Location: Paris, France
Speaker
Biography:

Isaac Adeyemi Adeleye is a Microbiologist with focus on Pathogenic Microbes and Bioactive Compounds from Plants and Marine Microbes. He has his undergraduate degree BSc (Hons) in Biology from the University of Lagos, Master’s degree in Microbiology from Obafemi Awolowo University (OAU) and a Doctorate degree from the University of Ibadan. He holds a Chair of Microbiology at the University of Lagos. He has conducted research in many areas of Microbiology and Mentored more than 100 undergraduates, 50 Masters and has supervised more than 10 PhD students. He has more than 70 publications to his credit.

Abstract:

Torque teno virus (TTV) is a single stranded DNA virus suspected to be responsible for hepatitis symptoms in humans. There is no published data on the genomic characterization of TTV in Nigeria. To this end, 260 plasma samples, 130 each from HIV positive patients and healthy voluntary donors were tested for TTV DNA by PCR and three near complete genome of TTV were isolated and sequenced. Using appropriate primers, genome amplification with the expected product size of 3652 bp was achieved. In-silico analysis was done to characterize this virus. The TTV Nigerian isolate FL100 yielded a product size of 3623 bp and shares the highest sequence similarity of 93%, E-value 0.0 over a 99% query cover, with a US isolate KT163879 (3748 bp). Both isolates clustered with other isolates from group 1 such as AB017610 (TTV prototype reference genome from US) AF298585, a Polish isolate. Isolate FL100 has between 63%-65% identity with other isolates in genogroup 1. It shares between 52%-59% identity with isolates from other phylogenetic groups. It has a 45% and 46% identity with TTMV and TTMDV respectively. Its alignment identity with other Nigerian isolates was 56% and 57% for FL08 and BD 67 respectively. FL100 has a pairwise distance value of 0.07 with KT163879 and 0.51 with group 1 reference isolate TA278 (AB017610) over the entire sequence. This confirms that the Nigeria isolate FL100 belongs to phylogenetic group one.