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ESHG Conference 2017 ESHG Conference 2017

Welcome to the European Human Genetics Conference

May 27–30, 2017

  • Home
    • Programme
      • Saturday, May 27
      • Sunday, May 28
      • Monday, May 29
      • Tuesday, May 30
      • Session Type Descriptions
      • Educational Track
      • Posters
      • Conference App
      • Videos and Slides
      • Late Programme Changes
    • Speakers
      • Speaker Profiles
      • Interviews of Award Lecturers
    • Satellite Meetings
      • Corporate Satellite Meetings
      • Sponsored Session
      • Business and Ancillary Meetings
      • Non-corporate Satellites
    • Abstracts
      • Programme Planner & Abstract Search
      • Conference App
      • Young Investigator Awards and Fellowships
      • Young Investigator Award Candidates
      • Poster Award Candidates
    • My Conference
      • Welcome
      • Registration
      • Accommodation
      • Information for presenters
      • Official Events
      • General Information
      • Media & Online Policy
      • Location & Venue
      • Insider tips on exploring the conference
      • Do you need a visa?
      • Committees
      • Fellowship information
      • Keep me informed
      • Downloads
    • Sponsors
    • Exhibition
      • Become an exhibitor
    • Contact
  • Programme
    • Saturday, May 27
    • Sunday, May 28
    • Monday, May 29
    • Tuesday, May 30
    • Session Type Descriptions
    • Educational Track
    • Posters
    • Conference App
    • Videos and Slides
    • Late Programme Changes
  • Speakers
    • Speaker Profiles
    • Interviews of Award Lecturers
  • Satellite Meetings
    • Corporate Satellite Meetings
    • Sponsored Session
    • Business and Ancillary Meetings
    • Non-corporate Satellites
  • Abstracts
    • Programme Planner & Abstract Search
    • Conference App
    • Young Investigator Awards and Fellowships
    • Young Investigator Award Candidates
    • Poster Award Candidates
  • My Conference
    • Welcome
    • Registration
    • Accommodation
    • Information for presenters
    • Official Events
    • General Information
    • Media & Online Policy
    • Location & Venue
    • Insider tips on exploring the conference
    • Do you need a visa?
    • Committees
    • Fellowship information
    • Keep me informed
    • Downloads
  • Sponsors
  • Exhibition
    • Become an exhibitor
  • Contact

Poster Award Candidates

Poster Award Candidates Jerome del Picchia 2017-05-19T16:13:26+00:00

The ESHG proposes the ESHG Poster Awards for the best posters presented by Young Investigators at the meeting. The two winners (one in clinical, the other in basic research) will receive a prize money of EUR 500, a complementary ESHG online membership for one year as well as a free particpation in next year’s conference.

The five honorable mentions receive a complementary ESHG online membership for one year.

The ESHG Scientific Programme Committee has selected a number of candidates for the ESHG Poster Award based on the score of their submission after peer review. Candidate posters can be identified by a rosette on the board.

The nominee is the first author (i.e. presenting author) of the presented abstract, pre- or post-doctoral (not more than 4 years after PhD/MD).

We have asked the candidates to answer the following questions:

  • Q1: Date and city of birth
  • Q2: What is your current position?
  • Q3: Why did you choose a career in genetics?
  • Q4: What is so interesting about the research you are presenting at ESHG 2017?
Hassan Abolhassani
Hassan AbolhassaniHuddinge, Sweden
Poster: P07.01A Application of next generation sequencing in the conundrum of primary antibody deficiency
Poster Session P07 Immunology and hematopoietic system
Presence at the poster: Sunday, May 28, 2017, 10.15 – 11.15 hrs, Poster Area

Q1: September 17, 1986 – Tehran, Iran

Q2: PhD student of Clinical Immunology

Q3: Genetic diagnosis of patients with inborn immune disorders is currently “Achilles Heel” in the field of clinical immunology and more than 80% of molecular defects underlying these phenotypes are unknown. This process is also necessary for targeted therapy and family consulting and long term prognosis estimation.

Q4: After more than 15 years comprehensive clinical, immunologic and basic studies in the field of primary antibody deficiency we have developed the most efficient and successful pipeline in the genetic diagnosis of these patients identifying approximately 80% of the pathogenesis.

Rodrigo Almeida
Rodrigo AlmeidaCuritiba, Brazil
Poster: P12.001A Integrative approach and eQTL analysis identify breast cancer risk genetic variants affecting microRNA binding sites.
Poster Session P12 Cancer genetics
Presence at the poster: Sunday, May 28, 2017, 10.15 – 11.15 hrs, Poster Area

Q1: November 9, 1980 – Bom Jesus da Lapa, Brazil

Q2: Currently I‘m a postdoc research in the Molecular Epidemiology Department at the Leiden University Medical Center.

Q3: For me genetics is one of the most exciting field of out time. I choose a career in genetics because I liked the idea to understand one of the most fundamentals discipline in biology. Besides, there are numerous opportunities in the field.

Q4: In this „Big Data Era“, I‘ll present a data integration approach that shows how to interpreted non-coding genetic variants associate to breast cancer, which can regulate microRNAs target genes expression. Therefore, this variants could have an effect in the development of the disease.

Anna Babayan
Anna BabayanHamburg, Germany
Poster: P12.002B Dissecting cancer evolution by liquid biopsy and single cell genomic interrogation
Poster Session P12 Cancer genetics
Presence at the poster: Sunday, May 28, 2017, 16.45 – 17.45 hrs, Poster Area
Dorien Baetens
Dorien BaetensGhent, Belgium
Poster: P01.003C FOG2/ZFPM2 is a noval disease gene for primary ovarian insufficiency.
Poster Session P01 Reproductive Genetics/Prenatal Genetics
Presence at the poster: Monday, May 29, 2017, 10.15 – 11.15 hrs, Poster Area
Stefan Barakat
Stefan BarakatRotterdam, Netherlands
Poster: P17.02B Functional dissection of the enhancer network in human embryonic stem cells by ChIP-STARR-seq
Poster Session P17 Epigenetics and Gene Regulation
Presence at the poster: Sunday, May 28, 2017, 16.45 – 17.45 hrs, Poster Area

Q1: May 25, 1984 – Meerbusch, Germany

Q2: Postdoc

Q3: I have Always been interested in mechanisms of disease, and during my Medical training, I was fascinated by genetics. After doing a PhD in epigenetics on X inactivation, I wanted to learn more about gene regulation by non-coding elements, and therefore I have continued my postdoctoral research in that area, using embryonic stem cells as a model system

Q4: Although most of the genome is non-coding, it still very hard to predict those non-coding elements that are functional. The work presented here established a novel, quantitative and genome-wide approach to identify functional enhancers, by combining chromatin-immunoprecipitation with a massively-parallel-reporter-assay. This yielded novel information about the characteristics of functional enhancers, which might be usefull to extrapolate to other areas of genetics to further crack the non-coding genome code

Renata Bordeira-Carriço
Renata Bordeira-CarriçoPorto, Portugal
Poster: P17.03C Unveiling the regulatory landscapes of genes involved in pancreatic cancer using a zebrafish model
Poster Session P17 Epigenetics and Gene Regulation
Presence at the poster: Monday, May 29, 2017, 10.15 – 11.15 hrs, Poster Area

Q1: October 29, 1982 – Lisbon, Portugal

Q2: Post-doctoral researcher at Vertebrate Development and Regeneration Group at I3S/IBMC, Porto, Portugal

Q3: I see the future of Medicine lying on Genetics, since is the basis of biological systems, and a vast majority of diseases is caused by genetic alterations. By understanding the genetic basis of disease we can develop more specific and effective tools to prevent disease and to treat patients in a more personalized manner.

Q4: Genetic research in disease has been focusing mostly in gene coding sequence. However, cis-regulatory elements(CREs), required for proper gene expression, can have a detrimental impact on disease when mutated. We are interested in exploring the role of these elements in the proper expression/function of cancer-related genes and their contribution to pancreatic cancer development. CREs might constitute new susceptibility alleles and/or potential therapeutic targets, with important impact on clinical management.

Simeon Boyadjiev
Simeon BoyadjievSacramento, United States
Poster: P04.04D Chemical modulation of Hedghehog signaling in the abnormal osteogenic niche of non-syndromic craniosynostosis
Poster Session P04 Skeletal, connective tissue, ectodermal and skin disorders
Presence at the poster: Monday, May 29, 2017, 16.45 – 17.45 hrs, Poster Area
Gerarda Cappuccio
Gerarda CappuccioNaples, Italy
Poster: P09.002B Global metabolomic profiling unravels metabolite perturbations in Rett syndrome
Poster Session P09 Neurogenetic and psychiatric disorders
Presence at the poster: Sunday, May 28, 2017, 16.45 – 17.45 hrs, Poster Area
Alexis Cooper
Alexis CooperMainz, Germany
Poster: P17.01A Characterization of the expression of the imprinted Kcnk9-gene in specific brain regions and the phenotypic analysis of Kcnk9-knockout mice
Concurrent Session P17 Epigenetics and Gene Regulation
Presence at the poster: Sunday, May 28, 2017, 10.15 – 11.15 hrs, Poster Area and in the concurrent session C03 Best Posters Session, Saturday, May 27, 18.30-20.00 hrs, Cannes

Q1: November 27, 1985 – Fort Riley, Kansas, USA

Q2: Doctoral student in Molecular Human Genetics, Institute of Human Genetics, Mainz, Germany

Q3: We are all driven by the same questions: Who are we, where did we come from and how are we still alive? We want to decipher the code of life and the mechanisms of disease. A research career in this field is fascinating, illuminating and so rewarding. I am intrigued to find out how our environment shapes us within our epigenetics and how novel techniques will assist us in the process.

Q4: Do not underestimate epigenetics. The research I am presenting provides an epigenetic resolution underlying the mechanism and elucidation of the Birk-Barel mental retardation dysmorphism syndrome. Our epigenetic drug administration in mice show a promising approach for the treatment of the disease.

Annelies De Jaegher
Annelies De JaegherGhent, Belgium
Poster: P14.001A A next-generation sequencing approach targeting the highly repetitive ORF15 region of RPGR improves molecular diagnostics of X-linked retinitis pigmentosa
Poster Session P14 New diagnostic approaches, technical aspects & quality control
Presence at the poster: Sunday, May 28, 2017, 10.15 – 11.15 hrs, Poster Area
Henrike Heyne
Henrike HeyneLeipzig, Germany
Poster: P09.004D Elucidating the spectrum of protein-altering de novovariants in neurodevelopmental disorders with epilepsy
Poster Session P09 Neurogenetic and psychiatric disorders
Presence at the poster: Monday, May 29, 2017, 16.45 – 17.45 hrs, Poster Area

Q1: September 24, 1986 – Berlin (Germany)

Q2: postdoctoral research fellow mentored by Mark Daly
Analytical Translational Genetics Unit, Massachusetts General Hospital (Boston, USA) / Broad Institute of Harvard and MIT (Cambridge, USA)

Q3: In human genetics as a relatively young medical discipline, research and clinical application are tightly linked. It is exciting to work in such a quickly evolving field.

Q4: Our study provides the first comprehensive picture of the genetic architecture of neurodevelopmental disorders with epilepsy and will likely substantially impact clinical definitions of epilepsy entities as well as design of diagnostic testing applications.

Louiza Kalokairinou
Louiza KalokairinouLeuven, Belgium
Poster: P20.01A Regulation of direct-to-consumer genetic testing in Europe: a fragmented landscape
Poster Session P20 Psychological/Ethical/legal issues
Presence at the poster: Sunday, May 28, 2017, 10.15 – 11.15 hrs, Poster Area
Laura Kasak
Laura KasakTartu, Estonia
Poster: P01.001A Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families
Concurrent Session P01 Reproductive Genetics/Prenatal Genetics
Presence at the poster: Sunday, May 28, 2017, 10.15 – 11.15 hrs, Poster Area and in the concurrent session C03 Best Posters Session, Saturday, May 27, 18.30-20.00 hrs, Cannes

Q1: December 30, 1987 – Tartu, Estonia

Q2: I am currently a final year PhD student at the Institute of Molecular and Cell Biology, Universtity of Tartu, Estonia.

Q3: Since the first year of my undergraduate studies I was fascinated with human genetics. Fortunately, I was soon welcomed at the human molecular genetics research group of Professor Maris Laan. One of our interests is the placental genome structure and function in successful and complicated pregnancies. Placenta is a highly complex and astounding organ to study in the genetics point of view.

Q4: We have recently shown an extensive load of somatic copy number variations (CNVs) in the human placental genome with the highest fraction detected in normal term pregnancies. In the current study we hypothesized that insufficient promotion of CNVs may impair placental development and lead to recurrent pregnancy loss. Our results may have a number of perspective implications and suggest that early placental development may need a burst of somatic genomic rearrangements to guarantee active proliferation, migration and invasion of trophoblasts.

Svenja Kohler
Svenja KohlerLübeck, Germany
Poster: P10.01A Col6A2 p.G283E: antisense-induced mRNA knockdown as a possible treatment strategy
Poster Session P10 Neuromuscular disorders
Presence at the poster: Sunday, May 28, 2017, 10.15 – 11.15 hrs, Poster Area

Q1: June 18, 1993 – Rodalben, Germany

Q2: MD student

Janine Milbradt
Janine MilbradtCologne, Germany
Poster: P04.02B Plastin 3 regulates bone development and maintenance through the NFκB pathway in osteoclasts
Concurrent Session P04 Skeletal, connective tissue, ectodermal and skin disorders
Presence at the poster: Sunday, May 28, 2017, 16.45 – 17.45 hrs, Poster Area and in the concurrent session C03 Best Posters Session, Saturday, May 27, 18.30-20.00 hrs, Cannes

Q1: October 20, 1984 – Berlin, Germany

Q2: PhD student at the Institute of Human Genetics in Cologne (RG BProf. Dr. Brunhilde Wirth)

Q3: I was specifically interested in human genetics because i wanted to produce valuable data that could be beneficial one day for the treatment of various diseases affecting people worldwide.

Q4: We found a novel protein interaction affecting the NFkB pathway which could not only have importance for therapeutic aspects in osteoporosis, but may also have crucial impact on other areas in human genetics, for example immunologic or neurologic dieseases.

Antonino Montalbano
Antonino MontalbanoHeidelberg, Germany
Poster: P04.03C Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency
Concurrent Session P04 Skeletal, connective tissue, ectodermal and skin disorders
Presence at the poster: Monday, May 29, 2017, 10.15 – 11.15 hrs, Poster Area and in the concurrent session C03 Best Posters Session, Saturday, May 27, 18.30-20.00 hrs, Cannes

Q1: June 24, 1986 – Palermo, Italy

Q2: Postdoc at Prof. Neville Sanjana´s lab, New York Genome Center and New York University, New York, USA.

Q3: It is a very exciting time to be a geneticist. Reduction of the sequencing costs is leading to the generation of increasing amounts of data that need to be analyzed. There is an urgent need of new generation scientists able to work with those data to understand how changes in DNA sequences can lead to disease. I want to be part of the new generation of scientists, able to combine genetics, bioinformatics, and wet lab experiments to unravel mechanisms of disease with the ultimate goal to discovery novel diagnostic markers and new therapeutic targets.

Q4: The research I am presenting at the conference used genetic analyses, whole genome linkage analysis and whole exome sequencing, to identify candidate genetic modifiers. Functional analysis were performed to characterize the mechanisms leading to alteration of the disease.This study is one among the few that identified the mechanism of disease modifications by genetic factors in human. Identifying disease modifiers may enable the accurate prediction of disease progression and improve therapeutic development.

Anna Morgan
Anna MorganTrieste, Italy
Poster: P02.01A Next Generation Sequencing (NGS) followed by in vitro and in vivofunctional studies revealed new genes for both Hereditary (HHL) and Age Related Hearing Loss (ARHL).
Poster Session P02 Sensory disorders (eye, ear, pain)
Presence at the poster: Sunday, May 28, 2017, 10.15 – 11.15 hrs, Poster Area

Q1: October 22, 1988 – Conegliano (TV), Italy

Q2: Post Doc at the Department of Medicine, Surgery and Health Sciences, University of Trieste.

Q3: Since my first Genetics course during University, I started realizing how Genetics contribute to many aspects of human life. This intuition prompted me to dedicate my research activity to this field. In particular, I am interested in uncovering the molecular mechanisms leading to genetic diseases and in understanding the link between DNA mutations and human phenotypes.

Q4: My work focuses on the study of both monogenic and complex forms of hearing loss (HL). HL is the most common sensory disorder in human and, despite the numerous advances in sequencing technologies, it is not always possible to reach a clear molecular diagnosis. The aim of my research project is to identify new HL-genes, thus helping in understanding the biology of the hearing system and providing hints for new therapeutic approaches.

Lam Son Nguyen
Lam Son NguyenParis, France
Poster: P09.003C Role of miR-146a in the differentiation and neural lineage identity determination of human neural stem cells: relevance for autism spectrum disorders
Poster Session P09 Neurogenetic and psychiatric disorders
Presence at the poster: Monday, May 29, 2017, 10.15 – 11.15 hrs, Poster Area

Q1: April 9, 1984 – Ho Chi Minh City, Vietnam

Q2: Post-doctoral Researcher

Q3: I choose a career in genetics because there is few therapy available currently for genetic disorders, especially for brain disorders. I believe that I can make a change.

Q4: My work explores the contribution of an epigenetic factor, namely microRNA, in neurodevelopmental disorders. This work is interesting because it demonstrates a causative role of microRNA in these diseases. More importantly, treatment with synthetic miRNA constructs by nasal spray has been proven to successfully reverse disease symptom in rat models. This brings treatment for genetic brain disorders one step closer to reality.

Ron Nudel
Ron NudelRoskilde, Denmark
Poster: P16.01A GeneHancer: Genome-wide integration and scoring of enhancers and target genes in GeneCards
Poster Session P16 Omics/Bioinformatics
Presence at the poster: Sunday, May 28, 2017, 10.15 – 11.15 hrs, Poster Area
Manon Oud
Manon OudNijmegen, Netherlands
Poster: P01.002B Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia
Poster Session P01 Reproductive Genetics/Prenatal Genetics
Presence at the poster: Sunday, May 28, 2017, 16.45 – 17.45 hrs, Poster Area

Q1: September 12, 1992 – Nijmegen, Netherlands

Q2: PhD student

Q3: I have been fascinated by DNA ever since I visited a Science Museum in Amsterdam as a child. The fascination only grew during my Biology studies and I decided to learn more by doing a PhD in genetics.

Q4: Our study shows that it is possible to consolidate the detection of different types of genetic variation causing male infertility while increasing the diagnostic yield and detection precision at the same or lower price compared to currently used methods. This can greatly help both research and diagnostics in the field of male infertility.

Gundula Povysil
Gundula PovysilLinz, Austria
Poster: P16.03C panelcn.MOPS: CNV detection in targeted NGS panel data for clinical diagnostics
Poster Session P16 Omics/Bioinformatics
Presence at the poster: Monday, May 29, 2017, 10.15 – 11.15 hrs, Poster Area

Q1: August 18, 1986 – Linz, Austria

Q2: PhD Student at the Institute of Bioinformatics, Johannes Kepler University Linz

Q3: I was always fascinated by the fact that small changes in our DNA have huge impacts on our lives. With a career in genetics I can not only find out where we come from or why a person is ill, but also work towards a way to cure people or prevent illness.

Q4: We developed a pipeline for detecting CNVs in targeted NGS panel data that is not only superior in terms of sensitivity and specificity, but also avoids incidental findings and can readily be used via a GUI by clinical geneticists without programming experience, or integrated as R package into existing variant detection pipelines

Sonika Rathi
Sonika RathiHyderabad, India
Poster: P13.01A Molecular genetic and functional analysis indicate novel genes involvement in retinopathy of prematurity
Poster Session P13 Basic mechanisms in molecular and cytogenetics
Presence at the poster: Sunday, May 28, 2017, 10.15 – 11.15 hrs, Poster Area

Q1: April 29, 1984 – Indore , India

Q2: Research Associate

Q3: From my higher education I found genetics very interesting and logical. I realized genetics is the background of most of the biomedical Research.

Q4:The genetics involvement in ROP is not clear till now. My research not only identified novel genes in ROP pathogenesis but also whole mechanism and finally biomarkers which can be used for the progression of the diseases.

Neus Roca-Ayats
Neus Roca-AyatsBarcelona, Spain
Poster: P15.01A A GGPS1 mutation found by WES in three sisters with bisphosphonate-associated atypical femoral fractures
Poster Session P15 Personalized/Predictive Medicine and Pharmacogenomics
Presence at the poster: Sunday, May 28, 2017, 10.15 – 11.15 hrs, Poster Area

Q1: January 24, 1991 – Vic, Spain

Q2: PhD student at the University of Barcelona

Q3: I got fascinated by Genetics during my studies in Biochemistry, although it had already caught my attention before. I am interested in how life works at molecular level and in deciphering the mechanisms that underlie diseases. Genetics is a multidisciplinary field that evolves a lot, which make it challenging and enable me to learn continuously.

Q4: Atypical femoral fractures (AFFs) are a rare but devastating type of fracture possibly associated with long-term bisphosphonate (BP) therapy, the main treatment for osteoporosis and cancer-related bone disease. This is the first WES performed in AFF patients and a novel mutation in GGPS1 was identified, which totally impairs its function. The encoded enzyme, GGPPS, is involved in the mevalonate pathway and it is known to be inhibited by BPs. This study opens the door to risk assessment tools to personalize the therapy.

Lara Rodriguez Laguna
Lara Rodriguez LagunaMadrid, Spain
Poster: P11.001A Somatic activating PIK3CA mutations cause CLAPO syndrome
Poster Session P11 Multiple Malformation/anomalies syndromes
Presence at the poster: Sunday, May 28, 2017, 10.15 – 11.15 hrs, Poster Area

Q1: May 18, 1989 – Madrid, Spain.

Q2: PhD student.

Q3: My vocation for genetics arises from my curiosity and passion for medicine, diseases and technology. Having the chance to gain knowledge in the natural development and evolution of diseases, and being able to apply it to patients, was what lead me to choose genetics as my professional career.

Q4: This paper describes for the first time the genetic cause of a rare disease of which there was little knowledge. In addition, since the work includes this syndrome as a part of a larger known spectrum, the existing knowledge regarding future possibilities of treatment, pathogenic mechanism and counselling with reproductive intentions, it is automatically applied to CLAPO syndrome improving its personalized advice. Finally by working in a hospital service, I could personally observe the importance for patients and their families to have a specific diagnosis after years of uncertainty and anxiety.

Francesco Russo
Francesco RussoCopenhagen, Denmark
Poster: P16.02B Comorbidity landscape of the Danish patient population affected by chromosomal abnormalities
Poster Session P16 Omics/Bioinformatics
Presence at the poster: Sunday, May 28, 2017, 16.45 – 17.45 hrs, Poster Area

Q1: September 20, 1985 – Catania (Italy)

Q2: PhD student at Novo Nordisk Foundation Center for Protein Research, University of Copenhagen

Q3: I am a molecular biologist and genetics is a new field for me. I started around one year ago studying the Klinefelter Syndrome, an opportunity to learn more about complex diseases. It was love at first sight! After few months our work was accepted for publication. A great recognition! I hope to work more in this field and hopefully help people with my little contribution.

Q4: My research presents a comprehensive epidemiological study of the entire Danish population affected by chromosomal abnormalities. We have unique data consisting of the national patient registry which includes 6.9 million patients. We discovered more than 9,000 patients affected by chromosomal abnormalities and we found specific comorbidities for each chromosomal abnormality but also interesting overlaps between diseases.

Shiri Shkedi-Rafid
Shiri Shkedi-RafidJerusalem, Israel
Poster: P19.02B Pregnant genetic counselors in the era of advanced genomic tests: What do the experts test prenatally?
Poster Session P19 Genetic counselling/Education/public services
Presence at the poster: Sunday, May 28, 2017, 16.45 – 17.45 hrs, Poster Area

Q1: March 18, 1975 – Jerusalem, Israel

Q2: Genetic counselor at the Center for Clinical Genetics, Hadassah Hebrew University Medical Center
Director, MsC program in genetic counseling. Faculty of Medicine, the Hebrew University of Jerusalem

Q3: Genetic counseling is a unique multidisciplinary field. I was fascinated by the combination of human interaction, never ending learning , and by the many research opportunities.

Q4: It has frequently been argued that knowledge and probabilistic/statistical understanding are essential to allowing pregnant women to make sound, informed decisions about which genetic tests to perform during pregnancy.
Genetic counselors, unlike most women who take prenatal diagnostic tests, are both highly knowledgeable about the various outcomes of genetic tests, and trained in statistics and concepts of probability. They are also a unique group in the sense that they do not oppose the selection of future generations on the basis of their health prospects, as this is their professional practice. Moreover, their practice overexposes them to genetic anomalies and risk.
Based on their specific features, it can be argued that pregnant genetic counselors are highly capable of making informed decisions as to which tests, and which test results, they wish to receive during their own pregnancies. Yet it is not clear whether they would be early adopters of new technologies, or prefer to practice caution, since they encounter in their work both the advantages and disadvantages of advanced genomic testing.
The novelty of our study is that it adds to the existing literature, which has focused either on medical experts’ professional views, or on public preferences and experience, by shedding light on the actions of professionals as patients.

Arthur Sorlin
Arthur SorlinDijon, France
Poster: P04.01A Postzygotic dominant-negative mutations of RHOAcause a mosaic neuroectodermal syndrome
Concurrent Session P04 Skeletal, connective tissue, ectodermal and skin disorders
Presence at the poster: Sunday, May 28, 2017, 10.15 – 11.15 hrs, Poster Area and in the concurrent session C03 Best Posters Session, Saturday, May 27, 18.30-20.00 hrs, Cannes

Q1: September 28, 1988 – Firminy, France

Q2: PhD student and medical geneticist in training

Q3: As a medical doctor, genetics is a fascinating field to work in, as it deals with cutting-edge science, precision medicine, and major ethical questions. I am convinced that advances in genetics will shape the medicine of tomorrow, and will highly improve patients’ life.

Q4: Using next generation sequencing, we identified the cause of a recognizable, previously undescribed mosaic syndrome. We reported the first gene firmly associated with hypomelanosis of Ito. Contrary to other mosaic syndromes, caused by activating mutations, we demonstrated that our variants have a dominant-negative effect, providing a new mechanism for lethal mutations surviving only by mosaicism.

Sanne Leanne van der Steen
Sanne Leanne van der SteenRotterdam, Netherlands
Poster: P19.01A Reconciling non-directivity and the counselors‘ preference in prenatal counseling
Concurrent Session P19 Genetic counselling/Education/public services
Presence at the poster: Sunday, May 28, 2017, 10.15 – 11.15 hrs, Poster Area and in the concurrent session C03 Best Posters Session, Saturday, May 27, 18.30-20.00 hrs, Cannes

Q1: February 4, 1989 – The Hague, Netherlands

Q2: PhD Candidate

Q3: As a psychologist, my interest for people goes further than the science of the brain; I am fascinated by the building blocks of humankind.

Q4: In my presentation I will reveal how the counselors’ own preference for a test influences the patients’ choice, putting the concept of non-directivity in genetic counseling in a new light.

Tessa van Dijk
Tessa van DijkAmsterdam, Netherlands
Poster: P09.001A Mutations in CoA Synthase cause pontocerebellar hypoplasia
Concurrent Session P09 Neurogenetic and psychiatric disorders
Presence at the poster: Sunday, May 28, 2017, 10.15 – 11.15 hrs, Poster Area and in the concurrent session C03 Best Posters Session, Saturday, May 27, 18.30-20.00 hrs, Cannes
Roel Wouters
Roel WoutersUtrecht, Netherlands
Poster: P20.02B A duty to hunt for pathogenic mutations? Ethical considerations regarding routine screening of genomic data
Poster Session P20 Psychological/Ethical/legal issues
Presence at the poster: Sunday, May 28, 2017, 16.45 – 17.45 hrs, Poster Area

Q1: February 17, 1991 – Heerlen, The Netherlands

Q2: I am a PhD candidate in medical ethics, focussing on the responsible introduction of next generation sequencing in oncology.

Q3: I think that genetics, as one of the cornerstones of personalized medicine, has the potential to fundamentally change the way we organize health care in the 21st century. As a young medical doctor, I expect that these developments in genetics will enable me to offer my future patients better treatment options.

Q4: I present an ethical analysis on the question as to whether geneticists should routinely screen genomic sequencing data for a list of pathogenic mutations (also referred to as a duty to hunt). This research provides insights that are relevant for a lot of professionals who are confronted with large quantities of data but ask which parts of these data should be analyzed.

Shachar Zuckerman
Shachar ZuckermanJerusalem, Israel
Poster: P19.03C Reproductive experiences, medical concerns and moral attitudes among preimplantation genetic diagnosis (PGD) users: Synthesis of qualitative and quantitative analysis
Poster Session P19 Genetic counselling/Education/public services
Presence at the poster: Monday, May 29, 2017, 10.15 – 11.15 hrs, Poster Area

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