Scientific Program

Conference Series Ltd invites all the participants across the globe to attend 6th International Conference on Integrative Biology Barcelona, Spain.

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Scientific Program Day 1
Scientific Program Day 2

Day 2 :

  • Human Genomics | Bioinformatics in Genomics | Micro RNA | | Biophysics | Cell biology
Location: Orly

Chair

Michael Bergel

Texas Woman’s University, USA

Co-Chair

Marta Koblowska

University of Warsaw, Poland

Session Introduction

Manjit Kaur

National Human Genome Research Institute - NIH, USA

Title: International Summit in Human Genetics and Genomics (ISHGG): Training the next generation of scientists and clinicians in human genetics and genomics in developing or genetics resource poor countries
Biography:

Manjit Kaur completed her MS (Microbiology) from University of Maryland, USA; an MBA from Johns Hopkins Carey Business School, Baltimore, Maryland, USA. She is an Interdisciplinary Scientist trained in microbiology, clinical pathology, infectious diseases, recombinant vaccines (cholera and malaria), biotechnology and human genetics and genomics. She previously worked for Academia, the Department of Defense and the private sector, before arriving at National Institute of Health, USA (2001), to work on neural tube defects. She now manages International Program at NHGRI that helps fi ll the knowledge gap in genetics and genomics in developing/genetics resource poor countries.

Abstract:

Genomics is increasingly becoming the backbone of all biomedical research and clinical application. Inherited and de novo disorders are adding to the burden of disease and disability in developing countries and straining their resources. Advances in human genetics and genomic research now make it possible to prevent, diagnose and treat many genetic and congenital birth defects; and proven strategies help manage unanticipated conditions. Unfortunately, many countries lack trained geneticists and the subject is not included in their curriculum, thus making it diffi cult to address these issues. To help fi ll the knowledge gap, National Human Genome Research Institute (NHGRI) developed ISHGG, a 5-year initiative (2016-2020), to assist developing countries build capacity in genetics and genomics. In 2016 and 2017, NHGRI sponsored professionals (n=19, n=26), from multiple health-allied disciplines, from several countries (n=13, n=24). Th e summit included didactics, clinics, fi eld trips, workshops and a patient-panel. Pre- and post-surveys conducted helped gauge knowledge about the subject, interest and learning among people. Th e results indicated that the summit was a unique learning opportunity for participants and speakers, and its continuance was encouraged. One-year outcomes from the 2016 summit included collaborations (27), publications (54) and grants (24). Annual feedback from participants on their eff orts in genetics/genomics, indicates that the summit is making good progress in achieving its goals of promoting genetic and genomic research and medicine through international cooperation and collaboration; identifying and fi lling the knowledge gap in genetics and its related technologies in developing countries and help reduce the burden of disease and disability in these countries.

Louis de Christen

Agilent, Spain

Title: Managing your experiments and projects beyond spreadsheets
Biography:

Abstract:

As scientifi c technology continues to improve, so does the ability of shared resource labs to eff ectively serve their scientifi c partners. However, an increase in laboratory customers presents a unique set of issues, which can hinder a lab’s operational effi ciency and impact overall results. In this workshop we will identify opportunities for optimized lab operations effi ciency, discuss details of an eff ective laboratory operations strategy, and provide insights on best practices and current tools in the industry. Investing time and thought into refi ning your laboratory operations will pave the way for satisfi ed partners and improved innovation.

Ana Fernández Marmiesse

University Hospital of Santiago de Compostela, Spain

Title: Neuromegen: Achieving rapid diagnosis for neurodevelopmental disorders
Biography:

Abstract:

Diagnosis of neurodevelopmental diseases is signifi cantly complicated by their variability of presentation. Th ese disorders may present symptoms that could be erroneously attributed to a common disease, delaying diagnosis and ultimately contributing to reduced awareness. Technological advances in next generation sequencing (NGS) and target enrichment approaches have led to major changes in diagnostic workfl ows in this fi eld. We discuss the milestones achieved with these developments, focusing on the results achieved for epileptic disorders. In a 4-year cohort study, a customized NGS-based panel (EPI-panel) was applied to the diagnostic workfl ow of over 215 infantile-onset epilepsy patients from Spain and Portugal. Simultaneous sequencing of 226 genes was performed using solution hybridization technology (Sure Select XT, Agilent) and subsequent sequencing using the MiSeq platform (Illumina). EPI-panel consists of (i) a custom panel design that
is periodically updated with new disease-associated genes proposed in the literature; (ii) a variant-prioritization algorithm that takes into account specifi c population frequencies and mutation-susceptibility profi les for genes. We detected 98 variants in 50 diff erent genes involved in neuronal excitability, neurodevelopment, synaptic transmission, metabolic pathways, and brain morphogenesis. An overall diagnostic yield of 40–50% was achieved. De novo mutations and CNVs constituted an important percentage of the genetic burden in the cases analyzed. Th e incorporation of the Neuromegen tools into the diagnostic protocol for these disorders shortens the time to diagnosis to 1–2 weeks, reduces the number of tests and treatments required, and can be used to orient genetic counseling.

Sarah S. Knox

West Virginia University School of Public Health, USA

Title: Wave/particle duality in biomedical research
Biography:

Sarah S Knox completed her PhD at Stockholm University in Sweden and began her career at the Karolinska Institute. After returning to the US, she worked at the National Institutes of Health for 17 years. She is currently a full Professor at West Virginia University. Her publications, honors and awards can be found on
Research Gate.

Abstract:

Because medical conditions occur in the physical body, we automatically assume that their causality is some form of matter. Th e fact that at a subatomic level, no diff erence between matter and energy is distinguishable has not changed our focus on matter as sole causality. Th us, we design our experiments to see particles. To understand DNA we separate the double helix and sequence the individual base pairs. Th is methodology has been highly successful in helping us to genotype diseases characterized by Mendelian inheritance. A couple of years ago, scientists succeeded in removing the DNA from a certain type of bacteria and inserting synthesized DNA to change the bacterial phenotype. However this experiment only works in a living cell. Th e cell, with the DNA removed was still living. Th is begs the question of how we defi ne life. When we set up the experiment to see particles, we do not see the waveform. In order to see the waveform, the DNA helix must be left intact,
because the entire strand is an electrical conductor. Wave functions extend perpendicular to the base planes forming what is known as a p orbital. Th e meaning and importance of DNA electrical conduction has not been investigated. As gene and molecular technology improve, the accuracy with which we can measure molecular events has increased exponentially. The thesis of this talk is that no matter how accurately we measure, if we are excluding relevant data points, our interpretations can end up being biased and misleading.

Igors Pupko

Reproductive Medicine and Genetic Clinic iVF Riga, Latvia

Title: Diffi culties of mosaicism interpretation in embryo aneuploidy screening in IVF setting
Biography:

Igors Pupko has received his B.Sc.in Genetics from University of Essex at 2017. Since graduation he is molecular geneticist in Reproductive Medicine and Genetic
Clinic iVF Riga.

Abstract:

Embryo aneuploidy screening (PGT-A) using diff erent approaches (FISH, arrayCGH, NGS) has been widely used in IVF setting worldwide. Chromosomal aberrations found in embryos could be as high as 50% from all embryos. Mosaic chromosomal aberrations oft en seen in embryos are well described. Diffi culties in interpreting results are challenging especially when there are no euploid embryos suitable for transfer. Several guidelines are available and they all state that euploid embryo should be preferred over aneuploid or mosaic aneuploid embryo. In case of mosaic embryos, chromosomal aberrations including chromosomes 13, 18, 21, as well as chromosomes which are linked with uniparental disomy, should be excluded. Embryo selfrescue is known mechanism, which in most cases manages to remove cells with aneuploidy and continue development from mosaic aneuploid embryo to child with normal karyotype in up to 80% pregnancies. Th e experience of our clinic has allowed to accumulate knowledge about the mosaic aneuploid embryo PGT-A data interpretation. Data interpretation should be done by specialists – geneticists and molecular geneticists to avoid misdiagnosis and carefully consider possible eff ects of mosaic aneuploidy, especially if there are no euploid embryos for transfer. In practice we have seen several possible outcomes aft er embryo self-rescue – normal and ongoing pregnancy, miscarriage and uniparental disomy..

Miriam Payá Milans

University of Tennessee, USA

Title: Exploring the design of RNA-Seq analysis pipeline
Biography:

Miriam Payá Milans is a Young Researcher with an international background. On her PhD studies, in Seville Spain, she worked on the molecular and biochemical analysis of genes in the lipid biosynthesis pathway. Part of that research was carried out in collaboration with laboratories at the Universities of Missouri and Guelph. After PhD, she decided to expand into the fi eld of bioinformatics, with her fi rst work done on SNP analysis in octoploid strawberry, in Barcelona. She is currently working as Postdoctoral Fellow at University of Tennessee, focusing on the analysis of RNA-Seq data in several plant species. There, she helps teaching at RNASeq analysis workshops and offers bioinformatics support to colleagues.

Abstract:

Transcriptome analysis through RNA-Seq data is well-established in model organisms, but the data analysis on other species can be less straightforward. Compared to other kingdoms, genome sequencing projects are far lower in plants, resulting in an increased challenge to the study of crop species. For example, in working with blueberries, we have more than one species of interest, fewer genomic resources than many model plant systems and various levels of polyploidy. When developing a workfl ow of soft ware tools to analyze this data, a researcher faces decisions among numerous algorithms at each step. We have explored some of the current options available to analyze RNA-Seq data in two situations: fi rst, when the closest reference genome is from a diff erent species and second, when a polyploid species is being sequenced but the closest reference genome is a diploid progenitor species. Results are compared between the usages of a related species reference genome against the utilization of de novo transcriptome assemblies. Further, comparisons are made amongst read correcting, quality trimming, and read mapping soft ware choices. We conclude that diff erent soft ware packages and approaches infl uence RNA-Seq analysis and recommend the election of parameters that maximize desired metrics when using polyploid species and/or a distant reference genome.