The ESHG awards prizes of EUR 500.- for outstanding research by young scientists presented as a spoken contribution at the conference. All young scientists submitting spoken presentations were encouraged to apply. 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).
Awards are given in the following categories:
- ESHG Young Investigator Awards for Outstanding Science
- Isabelle Oberlé Award for Research on Genetics of Mental Retardation
- Lodewijk Sandkuijl Award for the best talk in Statistical Genetics
- Vienna Medical Academy Award for the best talk in Translational Medicine
- Mia Neri Award for the best talk in Cerebral Cancer Research
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 2016?
Session: Concurrent Session C22 Systems Genetics
Date & Time: Tuesday, May 30, 2017, 11:30 hrs
Room: Alicante
Q1: August 29, 1986 – Monterrey, México
Q2: PhD student at the Genetics Department, UMC Groningen
Q3: High-throughput genomics and the advances of statistical methods to analyze this huge amount of information brought genetics to the spotlight of personalized medicine and drug development. Contributing to this rapidly developing field is very rewarding, as it could potentially help improve our healthcare system and therefore the quality of life of patients suffering from complex genetic diseases.
Q4: Our talk focuses on a computational approach that detects cell type specific expression quantitative trait loci (eQTLs) by solely using expression from bulk whole blood RNA-seq data. In the context of complex diseases and their genetic risk factors, knowing in which cell type a risk factor is more likely to exert an eQTL effect its a crucial step towards understanding the pathogenesis of these diseases.
Session: Concurrent Session C08 Neuromuscular Disorders
Date & Time: Sunday, May 28, 2017, 13:30 hrs
Room: Athens
Q1: March 22, 1985 – Minsk, Belarus
Q2: Postdoctoral Fellow,Massachusetts General Hospital/ Harvard Medical School
Q3: I want to understand how the DNA, being a molecule containing just four components, can lead to a creation of a human being. My ability to use my knowledge of statistics, programming and algorithms to drive new discoveries of the ways the life is built is my main motivator.
Q4: X-linked dystonia parkinsonism is a Mendelian disorder that has been linked to a founder haplotype over 20 years ago, but no progress has been made since then in uncovering pathogenic mechanism. With new technologies, we are able to scrutinize this disease and move the research forward while making unexpected discoveries.
Session: Concurrent Session C13 Innovative Variant Interpretation
Date & Time: Monday, May 29, 2017, 13:30 hrs
Room: Aarhus
Q1: December 13, 1988 – Wertheim, Germany
Q2: PhD student
Q3: Genetics, or for me rather bioinformatics focusing on disease characterization always kept me fascinated. At the end of my studies I wanted to understand diseases and ultimately help people. With this project I found the perfect match.
Q4: We developed a general pipeline to improve genetic diagnosis of Mendelian disorders. This project is exemplary for successful interdisciplinary collaboration between bioinformatics, biochemists and clinicians.
Session: Concurrent Session C11 Sensory disorders
Date & Time: Sunday, May 28, 2017, 13:45 hrs
Room: Alicante
Q1: February 27, 1992 – Paris, France
Q2: I’m a PhD student at the Laboratory of Genetics in Ophtalmology (LGO) in Imagine Institute, Paris, France
Q3: Research in human genetics is both complex and fascinating. Understanding the molecular mechanisms leading to diseases, that are so different on rarity and severity scale, is clearly a challenge to undertake, and for which I want to be part of. For me, the most motivating aspects of this field is the opportunity to make my contribution in treatment of patients affected from such illnesses.
Q4: Analyzing fibroblasts from two individuals having biallelic truncating CEP290 mutations but unexpectedly moderate visual dysfunction, I observed naturally occurring splicing of mutant exons and expression of minimally shortened CEP290 protein. This provides strong rational to my PhD project which assesses antisense oligonucleotides to bypass CEP290 truncation in blind LCA10 infants.
Session: Concurrent Session C11 Sensory disorders
Date & Time: Sunday, May 28, 2017, 14:00 hrs
Room: Alicante
Q1: July 16, 1986 – Sint-Niklaas, Belgium
Q2: PhD student at the Center for Medical Genetics Ghent
Q3: During my master studies in biomedical science, I became fascinated by the complexity of the human genome and intrigued by the link between genetic variation and disease. When I was given the opportunity to start a PhD in this field, I gladly took it 🙂
Q4: My research focuses on unraveling the importance of non-coding mutations in a form of inherited blindness: Stargardt disease. Finding these hidden mutations provides these patients with a molecular diagnosis, which is a prerequisite for inclusion in the -currently ongoing- gene therapy trials. Also, identifying non-coding mutations enables us to explore new therapeutic approaches and will hopefully result in a better future for these patients.
Session: Concurrent Session C05 Skin and Bones
Date & Time: Saturday, May 27, 2017, 19:30 hrs
Room: Amsterdam
Q1: June 6, 1989 – Montreuil sous bois, France
Q2: PhD student
Q3: I chose genetics because, for me, genetics is a fascinating and thrilling domain of research. Genetics is in a perpetual evolution and everyday new discoveries are made. Understanding the mechanisms and interactions at this level could allow us to elucidate many mysteries of biology.
Q4: Cross-mapping is an innovative strategy based on crossing the results of several studies on different population. Indeed, a locus identified by using different methods will be considered as a potential regulatory locus. This strategy allow us to make the best use of all the data available and also to avoid creating a replication cohort, which is the main limitation when studying rare disease.
Session: Concurrent Session C10 GWAS: Resolving Missing Causality
Date & Time: Sunday, May 28, 2017, 14:00 hrs
Room: Cannes
Q1: April 10, 1982 – Leipzig, Germany
Q2: PhD student of Matti Pirinen at the University of Helsinki
Q3: I had to do an internship during undergraduate studies in statistics. I excluded many fields of study and genetics remained. I went for the internship, liked it and sticked with human genetics because its full of great problems that require skills in designing and implementing efficient statistical models and algorithms.
Q4: Several statistical methods have recently been introduced to fine-map genomic regions using GWAS summary statistics. Common to all methods is that they require Linkage Disequilibrium (LD) information between variants. Since the hope has been that LD information from publicly available reference panels could replace the original genotype data in fine-mapping analyses, we evaluate how estimation of LD from reference panels performs compared to the original individual-level GWAS data. Come see our presentation to hear about new software and good practices to more efficiently exploit summary statistics in fine-mapping analyses.
Session: Concurrent Session C18 Internal organs
Date & Time: Monday, May 29, 2017, 13:30 hrs
Room: Amsterdam
Q1: January 11, 1985 – Reykjavik, Iceland
Q2: Research Scientist at the Statistic department at deCODE genetics.
Q3: Living in Iceland, a country where genealogy is considered a national hobby, the initiation in 1996 of large genetic studies by deCODE put human genetics at a central point of interest for many of my generation. I got familiarized with genetics during my master studies, applying statistical genetics to animal data in my MSc project to search for pairs of relatives in an Icelandic DNA-registry of fin whales. I subsequently shifted my focus to human genetics and, in 2014, had the unique opportunity to join deCODE. There, nationwide phenotypic and genotypic data enable us to examine associations underlying almost all observable traits and diseases. Thus far I have authored three published manuscripts and participated in numerous projects on common and rare human diseases. This has made me aware of how diverse the field of genetics can be and I am excited to continue my work.
Q4: Our study is based on a data set that consists of urine dipstick measurements from a large fraction of the Icelandic population. Whole-genome sequencing allows us to test these urinary markers for association with over 30 million variants, down to very low minor allele frequencies. Examining rare sequence variants is intriguing since they can lead to discoveries of geographic clusters, and the thorough Icelandic genealogical records make it possible to trace their time of creation or introduction into the population. Working with traits based on the chemical analysis of urine is also very interesting as it is one of the most widely used clinical tests, and the results can be considered as a natural variation in the population rather than a binary indication of disease status. By assessing the association of the detected variants with other phenotypes, we have the ability to uncover genetic links to diseases and shed light on their biology. In addition, this study emphasizes the role of genetic studies in the identification of drug targets.
Session: Concurrent Session C18 Internal organs
Date & Time: Monday, May 29, 2017, 13:45 hrs
Room: Amsterdam
Q1: February 27, 1977 – London, United Kingdom
Q2: Specialist Trainee, Obstetrics and Gynaecology, Imperial College London
Q3: I wanted to pursue the genetic basis of the common pelvic floor disorders that affect my female patients.
Q4: I found it exciting to apply techniques developed for much more widely researched conditions to something as hidden and as stigmatising as incontinence.
Session: Concurrent Session C22 Systems Genetics
Date & Time: Tuesday, May 30, 2017, 12:00 hrs
Room: Alicante
Q1: January 28, 1992 – Hertogenbosch, Netherlands
Q2: PhD candidate
Q3: Studying genetics, in my mind, is the perfect way to connect understanding of biological mechanisms in (human) disease with a potential to translate knowledge to the clinic. The opportunities to improve personalised medicine, drug discovery, and drug repurposing are seemingly endless, and that makes genetics such an exciting topic to work on.
Q4: I am presenting a large eQTL meta-analysis on the effect that SNPs have on gene expression. Especially the influence on distal genes is interesting: the effects of disease-associated SNPs often converge on genes in one or a few biological pathways that could in the future be targeted by specific drugs.
Session: Concurrent Session C13 Innovative Variant Interpretation
Date & Time: Monday, May 29, 2017, 14:00 hrs
Room: Aarhus
Q1: April 9, 1992 – Copertino, Italy
Q2: PhD Student attending second year of XXX cycle of the doctorate in Genetics, Oncology and Clinical Medicine (GenOMec) at University of Siena
Q3: I developed my passion to genetic during my high school, through participation to a seminar to the discover of the DNA. During my university I got the chance to increase my knowledge about this complex and extensive science. But thanks to my internship thesis, I understood what means to work in genetics. Now fortunately, I can attend PhD school and I can work on a project that excites me every day.
Q4: Our project is based on the isolation of urine derived cells in a totally non-invasive way, using the urines and avoiding every type of invasive procedure such as kidney biopsy. In particular for the first time, we have demonstrated that it is possible to isolate renal precursors from urine of Alport syndrome patients and healthy carriers. The isolation of cells very close to the GBM (glomerular basal membrane) structure and which express peculiarly the collagen IV genes, give us the chance to establish the pathogenic role of uncertain variants, thus allowing us to provide the patient with a molecular diagnosis and with a recurrence risk for the siblings.
Session: Concurrent Session C11 Sensory disorders
Date & Time: Sunday, May 28, 2017, 13:15 hrs
Room: Alicante
Q1: September 24, 1986 – Bolton, United Kingdom
Q2: PhD student
Q3: I became interested in genetics when I worked at a company developing genetic assays for personalised medicine. I like that it is a fast paced field where the technology and the scope of what can be achieved is constantly improving. I believe that genetics will be a driving force in many future medical advances.
Q4: The genetic syndrome I work on is extremely rare but the separate clinical features of the syndrome are much more common. Discoveries linked to this syndrome can make the genetic diagnosis of subsequent patients easier and may inform on the mechanisms behind more common genetic diseases.
Session: Concurrent Session C10 GWAS: Resolving Missing Causality
Date & Time: Sunday, May 28, 2017, 13:45 hrs
Room: Cannes
Q1: June 13, 1980 – Lugo, Spain
Q2: Postdoctoral Researcher at Centre for Cancer Genetic Epidemiology, University of Cambridge
Q3: I became fascinated with genetics while I was studying at high school. Later, whilst undertaking an MSc in Biotechnology, I had the opportunity to join the Genomic Medicine group in Santiago de Compostela. I love the multidisciplinary nature of the work, and the opportunities to learn new techniques. I started studying mendelian disorders and transitioned to the genetic epidemiology of complex disorders.
Q4: More than one hundred breast cancer independent signals have been identified through GWAS, but only one third of these regions have been studied in detail. Evaluating more than 150 loci together allows us to identify additional risk signals, as well as common epigenetic marks, along with transcription factors binding sites enriched at those loci. This aids us in elucidating the hidden genetic causes of breast cancer and piece together the complex and interactive genetic mechanisms underlying these risks.
Session: Plenary Session PL2 What’s New? Highlights Session
Date & Time: Saturday, May 27, 2017, 16:45 hrs
Room: Aarhus
Q1: November 10, 1985 – Varese, Italy
Q2: Postdoctoral fellow
Q3: I’m always been fascinated about exploring large-scale datasets and implement novel statistical methods. Genetic is the perfect training territory since it requires data-analysis abilities and innovative approaches. Moreover, since it is mostly determined at birth, it can provide information about causality that no other risk factor can provide. Therefore is a unique tool for answering epidemiological questions.
Q4: We explored for the first time an area of the allele frequency spectrum that was not possible to explore before. Only by using such large-scale dataset we can now understand what is the impact of this very deleterious group of variants and how they can affect a person’s life. It is quite interesting that we can see an effect on number of hospital visits and educational attainment. This indicates that the effect of these very rare variants is detectable on population-level and, once we will have a better understanding about the driving signals, these results might have a real clinical impact.
Session: Concurrent Session C02 Neurogenetics 1
Date & Time: Saturday, May 27, 2017, 18:45 hrs
Room: Copenhagen
Q1: March 16, 1991 – Dallas, TX, United States of America
Q2: I am a graduate student in Dr. Christian Schaaf’s lab at Baylor College of Medicine in the Dept. of Human and Molecular Genetics.
Q3: I was inspired to pursue a career in genetics because I have two older brothers with autism spectrum disorder of differing severity. That, combined with my love of biology, made genetics the perfect career path!
Q4: We are really excited about this work because it identifies a mechanism for 15q13.3 duplications, focusing on CHRNA7, in induced pluripotent stem cells (iPSCs) derived from patients with 15q13.3 CNVs. While the genomics and mRNA expression of CHRNA7 in duplication iPSC and differentiated neural progenitor cells (NPCs) suggest that we would have increased alpha7 nicotinic acetylcholine receptors (nAChRs) at the membrane, we’ve found that both 15q13.3 deletion and duplication NPCs have decreased alpha7 nAChR functionality. We’ve made steps in determining why this occurs in duplication cells and deletion cells. Most interesting, this suggests that similar therapeutics could be utilized for both groups of probands, which have begun to be tested in clinical trials.
Session: Concurrent Session C02 Neurogenetics 1
Date & Time: Saturday, May 27, 2017, 18:30 hrs
Room: Copenhagen
Q1: May 29, 1984 – Savona, Italy
Q2: I’m a post-doc researcher at the University of Turin, Dep. of Medical Sciences, Medical Genetics Unit (Italy).
Q3: Being a researcher in human genetics is not one single job, it is thousands of jobs simultaneously. On the one day, I’m a scientist who can change the life of people, an academic who can contribute to the advancement of science, but also a “glasswarewasher”, a secretary, a talent scout, a manager, a technician, a psychologist, a fundraiser, a teacher and a student… What more exciting and charming job could anyone choose?
Q4: My project represents a proof of principle for the use of Allele SPecific-RNA interference (ASP-RNAi) as therapeutic strategy in disorders associated with gene duplication. In this study, I used ASP-RNAi to treat Autosomal Dominant adult-onset demyelinating Leukodystrophy (ADLD), a hereditary, progressive and fatal disorder caused by lamin B1 (LMNB1) duplication, in in vitro pre-clinical studies.
Session: Concurrent Session C14 Population Genetics and Ancient DNA
Date & Time: Monday, May 29, 2017, 13:15 hrs
Room: Athens
Q1: February 28, 1987 – Hamburg, Germany
Q2: I am PhD student in the Human Genetics Department of Nijmegen, the Netherlands in the Genome Research Section. I work in the bioinformatic group of Christian Gilissen.
Q3: Genetics is rocket science! Week by week, we get to know more about our genome and about the way that it works or sometimes struggles to work. Year by year, new technical innovations make possible what seemed science fiction before. Yet, we are still only scratching the surface of many biological problems. The role of genetics will continue to grow. In these times, working in genetics is extremely exciting.
Q4: Every single human being has a unique genome. This enormous diversity is established by de novo mutations, that are present in every newborn child, but not in its parents. Some of these mutations occur very close to each other on the same chromosome, separated by less than 20 kbp. The group of these clustered mutations has properties different from the rest of de novo mutations. We investigated these mutations and found that they are associated with oocyte aging. They contribute a significant fraction of all aging-associated mutation in the female germline.
Session: Concurrent Session C13 Innovative Variant Interpretation
Date & Time: Monday, May 29, 2017, 13:45 hrs
Room: Aarhus
Q1: March 17 – Mexico City, Mexico
Q2: Senior Manager for Translational Genetics, Mendelian Genetics
Q3: Much progress has been made in our understanding of human biology in health and disease; however to date there are still thousands of disorders for which the molecular cause remains unknown. The patients suffering from these mainly rare and uncharacterized disorders can go undiagnosed for years before having an answer to their disorder. Through genetics and genomics, now we are able to identify the molecular cause for these disorders. Having a molecular diagnosis not only provides answers but also opens venues to treat patients and develop therapies that can cure or at least ameliorate patients’ symptoms. Additionally, linking genotypes with phenotypes expands our understanding of the role of unknown and poorly characterized genes in disease and normal human physiology.
Q4: We performed whole exome sequencing in a cohort of pediatric inflammatory bowel disease (IBD) patients to better understand the genetic architecture of pediatric IBD. We observed that a large proportion of probands, majoritarily affected with Crohn’s Disease (CD), were segregating rare and low frequency NOD2 variants in an autosomal recessive fashion. This observation is interesting because while IBD GWAS have reported increased susceptibility risk per allele, inheritance of NOD2 variants under a recessive Mendelian paradigm has not yet been reported as a major driver of CD with an earlier age on onset. Our research illustrates the intimate connections between rare and complex diseases, where recessive inheritance of rare and disease susceptibility variants confers risk of disease presentation beyond the estimated additive model used in GWAS and more closely to Mendelian inheritance patterns.
Session: Concurrent Session C17 Hereditary Cancer
Date & Time: Monday, May 29, 2017, 13:45 hrs
Room: Alicante
Q1: November 9, 1991 – Zutphen, Netherlands
Q2: PhD student at the Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Q3: I’ve always been fascinated by the fact that aberrations in the DNA can affect the whole function and phenotype of an organism.
Q4: The research I am presenting enables to determine the tumour phenotype of patients based on the mutation pattern of a tumour; from DNA level to patient (care).
Session: Concurrent Session C06 ELSI genomics
Date & Time: Saturday, May 27, 2017, 19:15 hrs
Room: Cologne
Q1: June 8, 1985 – Leiderdorp, Netherlands
Q2: : I’m a PhD-student on the subject of recontact in Clinical Genetics and a clinical geneticist in training at the University Medical Center Groningen in the Netherlands.
Q3: Genetic information can greatly influence the lives of patients and their family members. My goal is to give patients personalized information, help make choices (that are right for them) and promote communication with family members and medical professionals. I have a special interest in the use of digital health in genetics.
Q4: Our genetic knowledge and diagnostic technologies are increasing rapidly. This could lead to new genetic information that is of medical relevance to former patients. But how should we recontact these patients, taking constraints in workforce into account? Empirical evidence is needed to answer that question and prove feasibility.
Session: Concurrent Session C16 Intellectual Disability
Date & Time: Monday, May 29, 2017, 13:15 hrs
Room: Cannes
Q1: May 25, 1990 – Lüneburg, Germany
Q2: PhD Student in the group of Prof. Dr. Kerstin Kutsche at the Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany
Q3: I chose a career in genetics because I am very interested in identifying the genetic cause of rare diseases and thereby help the patients and their families to find answers to their questions. At the institute I am working, we are not focussing on certain diseases. Instead, I am always confronted with new phenotypes which gives room for my knowledge about genes, proteins, and pathways to grow steadily. My work also involves a broad spectrum of genetic, biochemical, and cell biological methods. So, I am not limited to explain the genetic cause of the patient’s phenotype but also get deeper insight into protein function and a variety of signaling cascades. As I decided to become a scientist, I am very proud to be nevertheless part of the patient care at our hospital (as I am participating in genetic counseling of patients included in my research projects) and I hope that some of my findings will lead to therapeutic interventions in the future.
Q4: Next-generation sequencing allowed us to identify the EBF3 gene, encoding a member of the early B-cell factor transcription factor family, as a novel disease gene for intellectual disability, speech delay, ataxia, and facial dysmorphism.
Session: Concurrent Session C19 Diagnostic variant interpretation and quality control
Date & Time: Tuesday, May 30, 2017, 11:15 hrs
Room: Aarhus
Q1: May 30, 1984 – Pleasanton, CA, United States of America
Q2: Clinical Molecular Genetics Fellow
Q3: My interest in genetics began in high school when I first drew a pedigree and attempted to understand the genetics of my family. My interest has increased as I’ve learned more about the utility of clinical genetics and the impact it has on the care of patients with genetic disorders.
Q4: The ACMG-AMP variant interpretation guidelines provide an evidence-based framework to classify variants; however further guidance on application of the guidelines is critical to move towards consistency in variant interpretations and transparency in classification rationale.
Session: Concurrent Session C23 Neurogenetics 2
Date & Time: Tuesday, May 30, 2017, 11:00 hrs
Room: Amsterdam
Q1: April 27, 1989 – Paris, France
Q2: PhD student in the Institute for Genetics and Molecular and Cellular Biology (IGBMC), Strasbourg, France
Q3: The complexity of the genome amazes me. I am especially interested in understanding how some mutations cause human diseases while others are a motor of evolution.
Q4: Using zebrafish, we are dissecting a rare CNV that has been linked to Autism Spectrum Disorder (ASD). We show that in that CNV, the different phenotypes of the patients are caused by different major drivers.
Session: Concurrent Session C21 Cardiovascular disorders
Date & Time: Tuesday, May 30, 2017, 11:45 hrs
Room: Cannes
Q1: December 5, 1982 – Cebovce, Slovakia
Q2: Bioinformatics Analyst at the Royal Brompton Hospital and Honorary Teaching Fellow in Genomic Medicine at Imperial College London
Q3: Having been a curious kid, I created my first genetically modified plants with colchicine at the age of 15. Afterwards, I studied biochemistry and genetics and I feel very lucky to work in genetic diagnostics, which interests me most.
Q4: We became very good at detecting tiny mutations from sequencing data, but knew that exon deletions and duplications were being overlooked. In contrast to earlier studies, my research uncovers a significant burden and enrichment of rare CNVs in cardiomyopathy patients, revealing the clinical utility of CNV calling in these conditions. In addition, I have developed a method that produces fewer false calls, decreasing the number of costly variant confirmations. I will present several clinically-significant CNVs and tell you how to find them.
Session: Concurrent Session C12 Engaging Patients in Genomics
Date & Time: Sunday, May 28, 2017, 13:45 hrs
Room: Amsterdam
Q1: May 28, 1984 – Plymouth, United Kingdom
Q2: Lecturer in Genomic Medicine, University of Exeter
Q3: I was always fascinated by science from an early age and decided I wanted to be a forensic scientist. As I grew older, I became captivated by the wonders of evolution and genetics and decided to pursue that instead. I have always had a passion for helping others to understand science.
Q4: Now that we stand on the edge of an avalanche of genomic information cascading into health services, it is imperative that the primary care clinicians on the frontline understand enough about this often uncertain information to be able to best help their patients. Gen-Equip is creating high-quality free educational resources throughout Europe to assist the mainstreaming of genetics in the clinic.
Session: Concurrent Session C08 Neuromuscular Disorders
Date & Time: Sunday, May 28, 2017, 13:45 hrs
Room: Athens
Q2: Research Associate at Newcastle University
Q3: I was always interested in science at school. I think it remarkable how seemingly small and insignificant DNA is, yet it is the molecular code for all living things – I love how nature is so intricate and finely-tuned. When I was able to specialise for my undergraduate degree, I knew that genetics was the only career for me. It isn’t just the subject of my degree and now my job, it is one of my biggest passions.
Q4: To the best of our knowledge, we have gathered the largest ever cohort of patients with an unexplained limb-girdle weakness phenotype. These debilitating diseases are relatively rare in the general population, but collectively affect many people and can ultimately precipitate premature mortality. By sequencing the exomes of the affected individuals, we are able to decipher the true genetic cause of rare muscle diseases, explaining how single DNA changes have such huge consequences.
Session: Concurrent Session C15 Reproductive Genetics
Date & Time: Monday, May 29, 2017, 13:00 hrs
Room: Copenhagen
Q2: Researcher at deCODE Genetics, working on de novo mutations.
Q3: Initially coming from a mathematical background, I was fascinated by the unique synergy of statistics, biology and computing in the interdisciplinary field of genomics. Sparked by this scientific curiosity, I pursued a Phd in evolutionary genomics at the University of Copenhagen, which I completed in 2015.
Q4: De novo mutations are the building blocks of evolution generated in a sex specific manner in the parental germlines. In our research we phased DNMs, allowing us to accurately estimate age-effects and mutational spectra in both germlines. We show a profound impact of maternal age on the regional sequence diversity of human populations and divergence between African great ape species.
Session: Concurrent Session C15 Reproductive Genetics
Date & Time: Monday, May 29, 2017, 13:15 hrs
Room: Copenhagen
Q1: July 2 – Põlva, Estonia
Q2: I am PhD student in University of Tartu and researcher in the Competence Centre on Health Technologies.
Q3: My real passion is reproductive biology of humans. It is interesting to explore the early days of human development and shed light to the molecular mechanisms of the pregnancy. I also believe that the understanding of molecular causes of fertility is critically important in the aging society.
Q4: Our endeavor is to solve the mystery of the growing human embryo attachment to the uterus. We moved closer to that objective by predicting the possible interactions between the mother and embryo on the cellular level. Therefore, describing the events taking place during the very first steps of human pregnancy.
Session: Plenary Session PL2 What’s New? Highlights Session
Date & Time: Saturday, May 27, 2017, 17:15 hrs
Room: Aarhus
Q1: January 9, 1990 – Tallinn, Estonia
Q2: I’m a second year doctoral student in Estonian Genome Center
Q3: I wanted to learn how genetics defines us in so different levels and how it can be used to study or predict different traits, diseases, and even history. I thought understanding more about genetics is crucial for understanding life in general and therefore I chose it for my specialty.
Q4: We study adverse drug reactions using Electronic health records for the first time in Estonian population. Our study shows that using e-health system is a powerful way to study genomics and proposes a way to identify individuals potentially at risk for unexpected drug response.
Session: Concurrent Session C02 Neurogenetics 1
Date & Time: Saturday, May 27, 2017, 19:00 hrs
Room: Copenhagen
Q1: June 20, 1989 – Domont, France
Q2: Ph.D Student
Q3: Knowing that genetic disorders can be driven by a single variation within the 3 billion base pairs of the human genome is fascinating. By discovering novel disease-causing variants, we can therefore help understanding the molecular basis of the diseases and promote the development of drugs.
Q4: We describe here a novel clinico-pathological entity driven by a genomic duplication of the 17q21.31 locus, encompassing the MAPT /Tau gene. Duplication carriers have increased MAPT/Tau expression and neurodegeneration associated with an extensive Tau pathology, leading to early-onset dementia.
Session: Plenary Session PL2 What’s New? Highlights Session
Date & Time: Saturday, May 27, 2017, 17:45 hrs
Room: Aarhus
Q1: January 2, 1987 – Voorburg, Netherlands
Q2: I am a bioinformatics PhD student at the Genomics Disorders Group in the Radboud University Medical Centre Nijmegen
Q3: Working as a bioinformatician in genetics gives me the opportunity to work on the intersection of biology, computer science and statistics. I believe genetics is increasingly becoming a data-driven discipline where the analysis of large genomic datasets will give us more insight on how mechanisms of disease work and provide important answers to patients and their families.
Q4: I believe that our findings are of great interest as we developed a novel statistical method to identify disease genes within large trio studies that can easily be applied by others. Moreover, the application of our method to public datasets identifies novel candidate genes for neurodevelopmental disorders and suggests a larger role for disease mechanisms other than haploinsufficiency than previously thought. I hope that the methodology shown in this study will encourage fellow researchers to use the presented approach on their in-house cohorts. In addition, I believe that the identification of novel candidate genes will lead to new insights into the disease mechanisms and potentially in the long term, to therapy.
Session: Concurrent Session C01 Personalized Medicine and Pharmacogenomics
Date & Time: Saturday, May 27, 2017, 19:00 hrs
Room: Aarhus
Q1: April 14, 1984 – Xanthi, Greece
Q2: I am a PhD student and have started my project in September 2014.
Q3: I am fascinated by the wealth of information that is hidden in our DNA and I wanted to learn why some individuals are more susceptible to a disease compared to others. If we understand this process, we may be able to develop new treatments and to prevent disease.
Q4: The interactions between environment and our genome have evolutionarily shaped our genome. Exploring the functional implications of DNA variants in the context of a phenotype is more insightful and, therefore, I am capturing these interactions in the context of an infectious disease (candidaemia) by investigating multiple molecular phenotypes, which may individually or together cause the infection.
Session: Concurrent Session C01 Personalized Medicine and Pharmacogenomics
Date & Time: Saturday, May 27, 2017, 18:30 hrs
Room: Aarhus
Q1: July 25, 1986 – Sligo, Ireland
Q2: Clinical Research Fellow in Cancer Genetics, Royal Marsden NHS Trust, London UK
Q3: Clinical genetics is incredibly varied, and always challenging – if the science isn’t difficult enough, there will often be an ethical or psychosocial issue to deal with to keep things interesting!
Q4: Adolescents and young adults are an interesting group – with unique needs and risk factors. Identifying germline defects in such individuals is crucial, as most will have young siblings, children, or even young parents that all may be at risk of cancer. Somatic defects in these individuals are also noteworthy, as they may represent targets novel therapeutic agent. This study highlights the importance of profiling both the soma and the germline of these patients for their benefit, and the benefit of the wider family.
Session: Concurrent Session C21 Cardiovascular disorders
Date & Time: Tuesday, May 30, 2017, 11:30 hrs
Room: Cannes
Q1: July 31, 1981 – Cape Town, South Africa
Q2: Postdoc at Institute for Cardiogenetics, University of Lübeck, Germany
Q3: I don’t think I consciously chose a career in genetics, it feels like it chose me. It all started when, at a very young age, I accompanied my mom to her lab at work one Saturday morning and looked through my first (“grown-up”) microscope – I was hooked to the sciences and my curiosity was peaked. Since then, especially during my graduate studies, I have tried to pursue the questions I found most interesting; putting in the long hours and hard work to find their answers. Therefore, I would say that following my passion has been an influential guide throughout my career path.
Q4: In our study, we wanted to contribute to the current search for the genetics of coronary artery disease (CAD), by using the generalized form of double compound heterozygosity (GCDH) to detect the genetic associations caused by compound heterozygosity in European ancestry genetic and exome data. From our results, SNPs found to be genome-wide significant (≤5×10-8) using the single-SNP based method were confirmed by GCDH; while others were only identified by using GCDH (≤1.25×10-10). Thus hinting towards possible underlying mechanisms of CAD.
Session: Concurrent Session C09 Molecular Mechanisms of Disease
Date & Time: Sunday, May 28, 2017, 13:30 hrs
Room: Copenhagen
Q1: December 23, 1980 – Yerevan, Armenia
Q2: Post doc.
Q3: I got my fascination in genetics in my high school while I was resolving simple tasks to figure out the patterns of inheritance.
Q4: We NGS sequenced clusterred CNVs to confirm whether or not they can be defined as chromothripsis or chromoanasynthesis, as well as we looked at the breakpont-junctions to predict the potencial mechanisms for those complex rearrangements.
Session: Concurrent Session C10 GWAS: Resolving Missing Causality
Date & Time: Sunday, May 28, 2017, 13:15 hrs
Room: Cannes
Q1: May 14, 1980 – Akureyri, Iceland
Q2: Research associate at deCODE genetics in Reykjavik Iceland
Q3: The recent technical advances in sequencing have opened up new and interesting opportunities in human genetic research, where suddenly we have population-scale genotype/phenotype information. After finishing a PhD were the main focus was on making and interpreting mouse knockout models I saw an opportunity to apply that experience in the filed of human genetics.
Q4: One of the pillars of genome wide association studies (GWAS) is the replication of genotype-phenotype association. We have created a resource that will allow for assessing of published GWAS genotype-phenotype associations in the Icelandic population. This work will benefit the GWAS research community as a whole and should be of some interest.
Session: Concurrent Session C21 Cardiovascular disorders
Date & Time: Tuesday, May 30, 2017, 11:15 hrs
Room: Cannes
Q1: February 27, 1994 – Barcelona, Spain
Q2: I am a PhD student in the Genetics Unit at Universitat Pompeu Fabra (Barcelona).
Q3: Science, and specifically biology, has always been my main interest when deciding about my professional career. What I find more attractive about genetics is that it is closely related to health and disease, and human disease research has always been the most interesting area of study for me.
Q4: Our research is focused on Williams-Beuren syndrome and cardiovascular alterations associated to it. Our results revealed a molecule that could be used as a therapeutic agent. Moreover, the description of the pathway that is being affected allows the identification of alternative targets that may have the same therapeutic effect.
Session: Concurrent Session C02 Neurogenetics 1
Date & Time: Saturday, May 27, 2017, 19:30 hrs
Room: Copenhagen
Q1: April 7, 1988 – Tartu, Estonia
Q2: Clinical geneticist in training at Tartu University Hospital and PhD student at the Institute of Clinical Medicine, University of Tartu, Estonia
Q3: As a medical doctor, I am convinced that every patient deserves a clear personal diagnosis which then should serve as the basis for personalized care. Working in a genetics clinic provides me the ability to work towards this dream by searching for disease causing genetic variants, counselling the patients, and doing research.
Q4: Describing a completely novel genetic syndrome by combining the data from exome sequencing, model organisms and patients’ phenotypes is always exciting. Even more, I am fascinated how the modern data sharing efforts made our discovery possible by making international collaboration truly efficient. Finally, the patients involved in our study received the long-waited molecular diagnoses.
Session: Concurrent Session C01 Personalized Medicine and Pharmacogenomics
Date & Time: Saturday, May 27, 2017, 18:45 hrs
Room: Aarhus
Q1: January 13, 1987 – Paralimni, Cyprus
Q2: I am a postdoctoral researcher in the department of Molecular Genetics Thalassaemia at The Cyprus Institute of Neurology and Genetics (CING)
Q3: Since the early stage of my biology undergraduate studies, I have always been fascinated by the intricacy of biology and the role of genetics in the fine balance between health and disease. Genetics is now a rapidly evolving field, approaching a comprehensive understanding of diseases and offering unique opportunities to develop novel therapies, such as those based on gene addition and genome editing.
Q4: We address aberrant β-globin mRNA as a factor in the disease pathology of β-thalassaemia by using RNAi, which merely removes aberrant transcripts but which in contrast to antisense-mediated splice repair can be applied as a single, permanent treatment, suitable for clinical translation. Planning to use RNAi merely to boost β-globin gene addition, we were surprised to see that RNAi not only enhances gene addition, but that it outperforms the latter when applied alone, by increasing endogenous β-globin levels. Our findings emphasise the importance of patient genotype, towards truly personal and more effective gene therapy.
Session: Concurrent Session C11 Sensory disorders
Date & Time: Sunday, May 28, 2017, 13:00 hrs
Room: Alicante
Q1: September 7, 1987 – Paris, France
Q2: I am currently working as an intern specialized in ENT.
Q3: I spent one year working in genetic as I am very interested in congenital genetic deafness. Correlating clinical and genetic data is key to improve our knowledge about physiopathology, and will moreover help in enhancing the care of affected children, in term of screening, diagnosis and treatment.
Q4: Our work provided understanding of the genetic cause in children suffering from auditory and optic neuropathies. To date, few is known about genetic cause of auditory neuropathy. Less is known about the rare cases of auditory associated with optic neuropathies. Studying the gene responsible for this particular association may provide a better understanding of the synaptic or neuronal transmission in sensorineural conditions.
Session: Concurrent Session C22 Systems Genetics
Date & Time: Tuesday, May 30, 2017, 11:15 hrs
Room: Alicante
Q1: March 18, 1993 – Moscow, Russian Federation
Q2: PhD student in the Laboratory of Functional Genome Analysis, Moscow Institute of Physics and Technology
Q3: I have always had a strong interest in research and challenging tasks that can help people. As my way in science, I chose to apply bioinformatics methods for proceeding and understanding big biology data. I believe that it helps to reveal some new insights at the regulation level of the human genome. Rapid development in genetics inspires me and reminds how complex is human genome.
Q4: “Expression insights into the human miRNA-mRNA interactome”. In my research, I present different miRNA groups that could be biomarkers associated with adverse prognostic features in cancer and other severe pathologies. Only about 1% of mRNAs are actively engaged in miRNA interactions. Furthermore, we identified several coding mRNAs with a substantial sponge effect, including AGO1, which function may reflect the competition and resultant coevolution of mRNAs and miRNAs.
Session: Concurrent Session C16 Intellectual Disability
Date & Time: Monday, May 29, 2017, 13:30 hrs
Room: Cannes
Q1: July 27, 1989 – Roosendaal, The Netherlands
Q2: PhD student
Q3: During my medicine study, I was always fascinated by underlying genetic causes of diseases: very small defects in the human genome can have big consequences for the patient. This, as well as the fact that a large field within genetics is still unknown and has to be discovered, did me choose for a career in genetics.
Q4: Parents of five patients have searched for years for an explanation of the developmental delay in their child. Not only the introduction of WES in diagnostics, but also the increasing possibilities to share data with clinicians and researchers all over the world, allowed us to find the cause of the problems in the children: all had missense mutations in the RAS-GTPase RAB11B. Because only two different mutations were present in the five patients, we were able to focus our study on the functional effects of these specific missense mutations. Since RAB11B amino acids and domains are highly conserved among other members of the RAS-family, our results could potentially be used for other RAS-GTPases as well, of which many still await to be discovered.
Session: Concurrent Session C14 Population Genetics and Ancient DNA
Date & Time: Monday, May 29, 2017, 13:45 hrs
Room: Athens
Q1: April 30, 1991 – Tartu, Estonia
Q2: PhD student
Q3: I have been interested in biology, evolution and archaeology since I was little so archaeogenetics and ancient DNA studies are the perfect study area for me.
Q4: Ancient DNA studies are extremely important for obtaining information about the demographic history of the world. My research from the Baltics (Estonia) shows very interesting results of hunter-gatherers being directly followed by Steppe ancestry farmers, skipping the first wave of farming into Europe from Anatolia.
Session: Concurrent Session C08 Neuromuscular Disorders
Date & Time: Sunday, May 28, 2017, 13:15 hrs
Room: Athens
Q1: July 9, 1986 – Oldenburg, Germany
Q2: PhD student in the research group of Prof. Dr. Wirth at the Institute of Human Genetics in Cologne, Germany
Q3: Genetics and especially human genetics is an exciting discipline for me, because unraveling the functional relevance of genes and the mechanisms underlying genetic disease phenotypes fascinate me, as it provides insights in the fundamental processes of our bodies. With the development of modern molecular, biological and high-throughput sequencing methods in the last decades, the field of human genetics is rapidly evolving and continuously pushing the frontiers of human knowledge, thus making it an extremely interesting work field.
Q4: Our research field aims at the identification of new genetic modifiers for SMA, a very common genetic neuromuscular disorder. By analyzing the genome of rarely existing genetic discordant families, we identify differentially regulated genes in individuals who are protected from SMA. Unravelling the functional role of these modifying genes allows us not only to find impaired processes in SMA, as recently shown for endocytosis, but also deepens our understanding of the complex SMA pathogenesis. Our pivotal goal is to translate this knowledge to further establish novel therapies to counteract disease phenotype.
Session: Concurrent Session C06 ELSI genomics
Date & Time: Saturday, May 27, 2017, 19:00 hrs
Room: Cologne
Q1: April 2, 1984 – Zanjan, Iran
Q2: PhD researcher
Q3: I am fascinated with the potentials of genomic data and how they could revolutionize medical diagnosis and drug development. Nevertheless, there are certain ethical, legal and social challenges associated with processing genomic data, which need to be addressed by adequate mechanisms and policies. Working on ethical and legal aspects of genetic testing and genomic research provided me with an opportunity to contribute to a very dynamic interdisciplinary field, which is at a crossroad of science and society.
Q4: Adopting adequate privacy safeguards is paramount when processing genomic data for research or clinical purposes. One of the major legal instruments for personal data protection in the EU is the new General Data Protection Regulation (GDPR), which has entered into force in May 2016 and repealed the Directive 95/46/EC, with an ultimate goal of enhancing effectiveness and harmonization of personal data protection in the EU. My research discusses the rules for processing genomic data for research purposes in view of new GDPR.
Session: Concurrent Session C02 Neurogenetics 1
Date & Time: Saturday, May 27, 2017, 19:45 hrs
Room: Copenhagen
Q1: September 10, 1991 – Summit, New Jersey, USA
Q2: PhD student in Mathematical Genomics and Medicine at the University of Cambridge, supervised by Matt Hurles at the Wellcome Trust Sanger Institute.
Q3: I started off studying mathematics. When I was introduced to the concept of genome sequencing around 2009, I was blown away by how rapidly the technology had been progressing and all of the amazing research already being done. I swapped my degree from Mathematics and Economics to Mathematics and Biology and got involved with research at my University, starting first in mathematical modelling of the yeast mitotic spindle, then moving into cancer genetics and analysing gene expression microarrays. I found the confluence of mathematics, computer science, and genetics to be incredibly exciting and a perfect fit for my skills and interest. While the role mathematics and computer science has grown in many other fields, the prospect of having a tangible impact on people’s health and wellbeing that comes along with research in genetics is a powerful motivation.
Q4: Exome sequencing (sequencing the protein-coding parts of the genome) has been incredibly successful at identifying genes which, when disrupted by a mutation, result in severe developmental disorders. However, still more than half of families with a rare developmental disorder remain without a diagnosis. There has been great speculation about the degree to which mutations outside of protein-coding genes, in regulatory elements such as enhancers, contribute to developmental disorders. My research as a part of the Deciphering Developmental Disorders project, based on genetic data from almost 8,000 families, is the first study to show that mutations in regulatory elements do contribute to developmental disorders. Moreover, we can make an estimate for the proportion of all unsolved cases that are explained by mutations in these elements with a dominant mechanism (only 1-3%) as well as the proportion of sites within a regulatory element that, when mutated, cause a disorder with a dominant mechanism (far fewer than in genes). These estimates have important implications for how whole genome sequencing studies should be conducted and analysed in the future. In particular, that more work on understanding the ‘grammar’ of regulatory elements is crucial and that several hundred thousand families would be needed to comprehensively identify disease-associated regulatory elements.
Session: Concurrent Session C05 Skin and Bones
Date & Time: Saturday, May 27, 2017, 19:15 hrs
Room: Amsterdam
Q1: August 30, 1984 – Koszalin, Poland
Q2: Assistant, Chair and Department of Medical Genetics, Poznan University of Medical Sciences
Q3: My interests have always centred on biology and medicine. As a biologist I was drawn to the depth and breadth of the field of medical genetics and the countless challenges it creates. I have come to discover that the more I learn and understand about genetics the deeper I want to explore it.
Q4: What makes this study captivating is the identification of a novel cause of a unique and extremely rare malformation – femoral hypoplasia. Moreover, despite the fact that on the genomic level the causative aberration is very similar to the duplications reported in the split hand/foot malformation cases our patients’ phenotype is strikingly different.
Session: Concurrent Session C04 Epigenetics and Gene Regulation
Date & Time: Saturday, May 27, 2017, 19:30 hrs
Room: Alicante
Q1: August 20, 1993 – Porto, Portugal
Q2: I am a research fellow at the Expression Regulation in Cancer Group at the Institute for Research and Innovation in Health (i3S), Porto, Portugal
Q3: For me, the choice of a career in the genetics field was not a conscious decision or a plan that I followed. During my studies I did a couple internships in different areas and then I was very lucky to had a wonderful mentor who “contaminated” me with his passion for genetics. And I’m still here, highly enthusiastic for what comes next in this fast-developing field.
Q4: Hereditary Diffuse Gastric Cancer (HDGC) is a syndrome with high mortality rate that remains genetically unexplained in 50% of cases. With this research we try to understand the genetic cause in these cases by looking at the noncoding portion of the genome. If confirmed, our data could dramatically improve the diagnosis and management of these HDGC patients and their families.
Session: Concurrent Session C11 Sensory disorders
Date & Time: Sunday, May 28, 2017, 13:30 hrs
Room: Alicante
Q1: March 24, 1990 – Boom, Belgium
Q2: Last-year PhD student at the Human Molecular Genetics group of the Center of Medical Genetics, University of Antwerp & Antwerp University Hospital
Q3: Genetics has always fascinated me. From the introduction to Mendel’s laws in secondary school throughout my Biomedical Sciences study at the University of Antwerp, this has only increased. It is fascinating how much information is encoded in our genes. When my PhD-position became available, I did not hesitate to apply in the hope of making a contribution to the field.
Q4: The research we present here has been performed in a large collaboration, and has led to the identification of one of the first otosclerosis genes, which is a break-through for the field. Furthermore, since we screened the gene in more than one thousand patients and more than one thousand controls, our study has sufficient power to unambiguously define its role in otosclerosis development.
Session: Concurrent Session C06 ELSI genomics
Date & Time: Saturday, May 27, 2017, 18:45 hrs
Room: Cologne
Q1: May 12, 1981 – Melbourne, Australia
Q2: I am a postdoctoral research fellow with the Centre for Biomedical Ethics and Law, KU Leuven in Begium where I am exploring ethical issues related to diagnostic uses of next generation sequencing.
Q3: I have been drawn to the field of human genetics since high school. As soon as I learned there was a profession which combined genetics, psychology and helping people, namely genetic counselling, I knew I had found my niche! I am a trained genetic counsellor but I love exploring people’s perspectives on ethical issues relating to genetics and genomics so qualitative research has become my focus.
Q4: Although next generation sequencing has been around for quite a few years, researchers and clinicians are still in doubt about which findings to report following diagnostic testing and guidelines by professional bodies are not very explicit on this issue. I organised a working group of experts in this field in order to develop some useful recommendations to address this need in order to assist laboratories in their decision making about the reporting of variants.
Session: Concurrent Session C18 Internal organs
Date & Time: Monday, May 29, 2017, 13:15 hrs
Room: Amsterdam
Q1: August 29, 1988 – Barcelona, Spain
Q2: PhD Student
Q3: Genetics is a fascinating field. I think it was fascinating to me the challenge of understanding as something as basic as the interplay of nucleotide pairs can become something as complex as long populations and interactions of living organisms. I also like genetics because it is a stimulating field that evolves quickly.
Q4: We study two of the most common gastrointestinal (GI) disorders; Irritable bowel syndrome (IBS) and inflammatory bowel disease (IBD). In previous studies, we found that high IBD genetic risk score is associated with a decrease in the genus Roseburia in the gut microbiota of healthy controls without gut complaints. Now by using microbial whole-genomes sequencing, higher taxonomical resolution can be reached and microbial functional pathways can be inferred. In this large case-control study we identified species- and strain-level microbial signatures associated with IBD and IBS, using stool samples from 355 IBD patients, 421 IBS patients and 1025 population controls. Strikingly, a substantial overlap between the gut microbiomes of patients with IBD and IBS compared to controls was observed. Nevertheless, we could distinguish IBD from IBS, using the high resolution microbial signatures as a biomarker. Our non-invasive stool test performed much better than the currently used fecal calprotectin test. Our study shows the importance understanding the gut microbiome and the opportunities for clinical treatments.
Session: Concurrent Session C20 Molecular syndromology
Date & Time: Tuesday, May 30, 2017, 11:30 hrs
Room: Copenhagen
Q1: January 19, 1991 – Aubergenville, France
Q2: PhD student
Q3: I have always been interested in rare disorders and their mechanisms.
Q4: Besides expanding the number of individuals with CHOPS syndrome, caused by mutations in AFF4, I will report on individuals with de novo mutations in AFF3. AFF3 has never been associated with pathologies before, and the new syndrome described here, including intellectual disability and skeletal dysplasia, is distinct from CHOPS syndrome.
Session: Concurrent Session C10 GWAS: Resolving Missing Causality
Date & Time: Sunday, May 28, 2017, 13:30 hrs
Room: Cannes
Q1: May 12, 1990 – St. Albans, United Kingdom
Q2: Research Associate at the Integrative Epidemiology Unit based within the School of Social and Community Medicine at the University of Bristol.
Q3: The ability to use multiple ‘omics’ data within a conventional epidemiological setting plus the skills and knowledge I acquired throughout my PhD motivated me to pursue a career in genetic epidemiology, applying and developing these complex methods to explore the causal relevance of adiposity on adverse health.
Q4: With this innovative study design, using complementary multivariable regression, Mendelian randomization (MR) and recall-by-genotype (RbG) analyses, results strongly suggest a causal role of higher BMI resulting in adverse cardiovascular health in young adults. The consistency between results found from RbG with 418 participants to those from MR with 7,909 participants suggests this approach is valid and statistically very efficient. Furthermore, the RbG method predominantly allowed the collection of extremely precise cardiovascular phenotypes that would otherwise not have been possible in sample sizes required for MR.
Session: Concurrent Session C19 Diagnostic variant interpretation and quality control
Date & Time: Tuesday, May 30, 2017, 11:45 hrs
Room: Aarhus
Q1: October 25, 1985 – Derby, United Kingdom
Q2: I am currently a Bioinformatics Research Associate at the MRC London Institute of Medical Sciences and the National Heart and Lung Institute at Imperial College London.
Q3: It was as an undergraduate, studying Natural Sciences, that I was introduced to genetics. At that moment, I decided it was what I wanted to pursue. From then on, I have always followed the aspect of my work that I enjoy the most. During my PhD I stumbled upon bioinformatics, and was encouraged to learn to code. I have never looked back. Genetics, to me, is the perfect mix of the sciences; I find it fascinating and my work has a real clinical impact.
Q4: Clinical genetic testing can be crucial in disease diagnosis and management of patients and their relatives; however, it can be tricky to determine which variants are disease-causing. Allele frequency is a key discriminator, as variants that are common in the general population cannot be causing a rare disease. We have taken this idea further, really digging down into disease architecture to determine ‘how common is too common?’ I am going to talk about how our statistically robust frequency thresholds add power to interpreting genetic variants, removing many candidate variants from contention but preserving variants that are truly disease-causing.
Session: Concurrent Session C17 Hereditary Cancer
Date & Time: Monday, May 29, 2017, 13:30 hrs
Room: Alicante
Q1: January 21, 1982 – Winchester, United Kingdom
Q2: Clinical research fellow – Department of Medical Genetics, University of Cambridge.
Q3: Confirmation bias applied retrospectively can make career decisions seem less arbitrary but I remember genetics being the subject I enjoyed most in medical school, probably because of its ability to (sometimes) explain disease from first principles and the surge in technological advances in the area. The opportunity costs associated with applying for genetics posts where sufficiently small to keep going and I’m very happy I did.
Q4: The massively parallel sequencing era in clinical cancer genetics prompts aspirational thoughts of the perfect test which can sensitively and specifically detect all relevant variation in one assay. Intuitively, one might imagine that whole genome sequencing is the technique to achieve this goal but whether it can offer much more than existing technologies in the clinic is a question that hasn’t frequently been addressed. This work is a step on the road to answering it.
Session: Plenary Session PL2 What’s New? Highlights Session
Date & Time: Saturday, May 27, 2017, 16:30 hrs
Room: Aarhus
Q1: January 31, 1986 – Pirna, Germany
Q2: I am a PhD Student at the Max-Planck-Institute of Molecular Genetics in Berlin.
Q3: For me, genetics is a fundamental element of life as the genome of every organism is unique. This is achieved by variations in the genome that might be tolerated but can also result in disease as these variations might influence genome organization and gene regulation. I was always interested in how genes are regulated and how faulty regulation might be associated with diesease.
Q4: Gene expression is regulated by enhancers, which commonly arrange in clusters. To date, enhancer function has been assessed by deletion studies only, without considering the effects of increased enhancer dosage or alterations in the composition of enhancer clusters – modifications that are common in human disease. I studied this phenomenon at the Ihh locus, at which variable non-coding duplications have been associated with the human phenotypes Craniosynostosis and Syn(poly)dactyly.
Session: Concurrent Session C23 Neurogenetics 2
Date & Time: Tuesday, May 30, 2017, 12:00 hrs
Room: Amsterdam
Q1: 1989, Helsinki, Finland
Q2: Student
Q3: Science can make a real difference in the world, and that is what I am passionate about. Genetics is the most fascinating and endless source of discovery and I could not think of a better career than genetics combined with neuroscience – neurogenetics. These two complex and intertwined fields can help us understand how genetic changes contribute to neurological diseases. My goal is to participate in the discovery of new genetic mutations and studying their molecular mechanisms. The ultimate goal is find cure for complex neurological diseases.
Q4: The discovery of association between a gene and a specific disease is crucial for understanding of the molecular mechanisms of a disease and how it can be treated in the future. This is especially important for diseases such as hereditary spastic paraplegia, which is extremely heterogeneous. We have identified a family with a mutation in mitochondrial protein ATAD3A. Molecular studies showed that mitochondrial networks and dynamics were severely disturbed. We show the association between ATAD3A and dominant HSP with intrafamiliar variability. With these findings and future studies into the protein, it will be useful for clinical diagnosis, for understanding the cellular mechanisms of this family of diseases and for potential future treatment.
Session: Concurrent Session C14 Population Genetics and Ancient DNA
Date & Time: Monday, May 29, 2017, 13:30 hrs
Room: Athens
Q1: September 9, 1987 — Sofia, Bulgaria
Q2: Bioinformatician
Q3: Living things are these messy, incredibly complicated, but ultimately knowable pieces of chemical machinery. I think genetics is the best way to determine what each of the different parts do.
Q4: Isolated populations living in extreme conditions face unique selective pressures, and this should be reflected in their genetic profile. Looking at local ancestry is a way to directly examine this.