Young Investigator Award Candidates 2018-06-07T08:48:14+00:00

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 2018?
Raul Aguirre-Gamboa
Raul Aguirre-GamboaMonterrey, Mexico
Q1: August 29, 1986 in Monterrey, Mexico
Q2: PhD Student
Q3: Genomics and deeply phenotyped cohorts, alongside new computational approaches to analyze them brought genetics to the spotlight of personnalized medicine and drug development. Contributing to this rapidly developing field is very rewarding and exciting, as it could potentially help to improve our healthcare system and the life quality of patients suffering from complex genetic diseases.
Q4: In our study we aimed to identify the genetic and the environment effects that are shared by multiple immune functions in a large population cohort. We measured 3 monocyte derived and 3 T cell derived cytokine after diverse pathogen stimulation in 500 volunteers, by using multivariate approach we found 5 novel genome wide loci implicated to immune response. These loci are enriched for genes implicated in immune response, and are co-localized with risk factors for immune mediated diseases. Finally, we also show that the genetics implicated in the production of Monocyte and T cell derived cytokines are not shared, implicating different immune pathways to each type of response.
Charlotte Alston
Charlotte Alston Glasgow, United Kingdom
Q1: March 25, 1982 – Glasgow, UK
Q2: I am a Clinical Scientist within the NHS Highly Specialised Mitochondrial Diagnostic Service and associate researcher within the Wellcome Centre for Mitochondrial Research in Newcastle upon Tyne, UK
Q3: I have always been interested in human pathology and was inspired during my undergraduate genetics degree to pursue a career in diagnostic genetics. I wanted a career that really made a difference to patients, and I believe I am part of a team that does just that. Every day is different, even after ten years, and hearing how our efforts have helped our patients and their families makes all the hard work worthwhile.
Q4: This collaborative research describes the first patients with pathogenic variants in NDUFAF8, a recently characterised orphan gene (C17orf89). Working collaboratively has enabled collation of 3 unrelated patients harbouring novel and interesting mutations in this new mitochondrial complex I assembly factor. Functional investigations using patient tissues, in collaboration with the group who originally characterised NDUFAF8, has confirmed pathogenicity. This research has already delivered direct patient impact. Please come and find out more at the poster sessions!
Guðný Anna Árnadóttir
Guðný Anna Árnadóttir Reykjavik, Iceland
Q1: March 28, 1988, Reykjavik, Iceland.
Q2: Researcher in deCODE genetics‘ statistics group, with a focus on rare mutations.
Q3: Due in part to Iceland’s small and homogeneous population, most Icelanders have an inherent interest in genetics. Being an Icelander I was therefore naturally interested by genetics, but for me it was also a way of combining my interest in biology and mathematics. Nowadays, genetics is considered one of the most rapidly changing fields of science. I feel extremely fortunate to be able to work in and contribute to this exciting field.
Q4: We have discovered a new disease gene using the unusual approach of going from a genotype of interest to a Mendelian phenotype. We identified eight Icelanders homozygous for a rare loss-of-function mutation in the previously uncharacterized gene C17orf62. We subsequently discovered that all eight individuals had symptoms compatible with chronic granulomatous disesase, but due to the heterogeneity of the disease only two had been diagnosed prior to this. Our discovery was made possible by the unique genetic database at deCODE, which now includes the genotypes of nearly half of the Icelandic population.
Paramasivam Arumugam
Paramasivam Arumugam Tamil Nadu, India
Q1: March 1, 1979 – Tamil Nadu, India
Q2: I am currently working as a Post Doctoral Research Fellow (N-PDF) in a project funded by the Government of India under the DST-SERB-N-PDF scheme.
Q3: The quarks of life reside within the genome of an individual. Even a smallest substitution in crucial genes may lead to disaster not only to the individual but also to the successive generation. Hence, studies on Molecular Genetics, not only saves an individual but guards his entire generation against dreadful genetic disorders.
Q4: Clinical research in the field of Mitochondrial Genetics is still in its juvenile stage in India. Several disorders have been identified and their molecular basis has been analyzed with greater precision using whole genome/exome sequencing. In view of this fact, we have identified several novel gene mutations which play a vital role in the development of mitochondrial diseases.
Noelia Benetó
Noelia Benetó Valencia, Spain
Q1: December 18, 1992 – Valencia, Spain
Q2: PhD student
Q3: During high school, Mendel and his research caught my attention noticeably. For this reason, I decided to study biochemistry and biomedical sciences, where I acquired a global vision of life at the molecular level. Now, my motivation is to apply the knowledge and techniques that I have learned during my scientific career to find treatments for genetic disorders, mainly those with a severe neurological affectation in patients.
Q4: Sanfilippo C syndrome is a rare disease, caused by mutations in the HGSNAT gene, characterized by a severe and progressive neurodegeneration, for which no effective treatment exists. Previously, we showed that siRNAs were a good substrate reduction therapy for the disease, using fibroblasts as our cellular model. Now, we are differentiating iPS cells from Sanfilippo patients into neurons, the most affected cell type in the disease, to test other RNAi approaches (short and long- term treatments). We hope to find a useful approach that enable us to reduce the neuronal affectation in patients of this disease.
Fabiola Ceroni
Fabiola Ceroni Faenza (Ravenna), Italy
Q1: November 9, 1985 Faenza (Ravenna), Italy
Q2: Post-doctoral researcher at Oxford Brookes University, Oxford, UK
Q3: I find that the variety and complexity of information encoded by our genome is amazing. For me, trying to understand how this code finely regulates human development and how genetic variation can lead to disorders represents a fascinating challenge. The impact that our research can have on people’s lives is also an important aspect of this job. The opportunity to translate our findings into improved health care, thanks to the close relationship between the research and the clinic within our group, is really motivating.
Q4: Our group’s research is focused on rare congenital eye anomalies characterised by a highly heterogeneous genetic architecture. By using whole-exome sequencing we identified a novel de novo missense variant in FBXW11, a gene with no previously assigned human phenotype, in a patient with ocular and digit anomalies. We present expression studies performed on human embryonic tissues and zebrafish models, both supporting a role for this gene in eye and limb morphogenesis.
Xiaojing Chu
Xiaojing Chu
Q1: November 28, 1991, Beijing, China
Q2: PhD student of University medical centre Groningen, Netherland
Q3: Firstly, It’s interesting for me. And studies of genetics can provide insights on biological science inlcluding disease mechanism. It’s always be nice if my finding can be beneficial to human health.
Q4: We measured a large amount of blood metabolites features in different platforms to perform a comprehensively study upon genetic regulation on blood metabolites. In this part, we found some non-synonymous variants show strong regulation on metabolites level through affecting metabolic enzyme function, and some SNPs co-localized with diseases such as celiac disease and crohn disease.
Then we applied systematic approaches to integrate metabolite features with immune traits including cell counts, globulins, platelets, modulators, hormones and gut microbiome to find common regulatory modules. Finally, by adding metabolite features into model, we improved genetic prediction on some cytokine-stimulation pairs.
Alexis Cooper
Alexis Cooper Fort Riley, Kansas, USA
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: My research illustrates a novel epigenetic approach using specific histone deacetylase inhibitors to sufficiently up-regulate the primordially imprinted paternal allele of Kcnk9 in the mouse brain, resulting in a rescue of the pathological behavioural phenotype in a mouse model of Birk-Barel mental retardation syndrome. With this study, we introduce the first epigenetic therapy to improve cognitive dysfunctions in an imprinting disorder.
Marc Corral-Juan
Marc Corral-JuanBarcelona, Spain
Q1: October 31, 1982 – Barcelona, Spain
Q2: PhD student in Neurogenetics
Q3: My interest on genetics, particularly on neurogenetics, emerges from my curiosity to elucidate the underlying genetic and molecular biology bases of the brain and its complexity, and how genetics plays a key role in neurodegeneration and many related rare neurological diseases.
Q4: The relevance of our work arises from the demonstration that an ATTTC unstable inserted mutation within the DAB1 gene underlies spinocerebellar ataxia type 37 (SCA37), an inherited ataxia originally described by our group characterised by late-onset ataxia and altered vertical eye movements. I will provide evidence showing how the mutation causes DAB1 RNA switch and cerebellar dysregulation of Reelin-DAB1 and PI3K/AKT signalling in SCA37. Furthermore, I will be presenting the description of the first neuropathological findings in SCA37.
Alice Cortesi
Alice Cortesi Italy
Q1: August 4, 1989, Gallarate (VA)
Q2: Post Doc in Genome Biology Unit at INGM (Milan)
Q3: The nucleotide DNA sequence is at the basis of life. My primary interest is to understand the connection between DNA and the epigenetic mechanisms that orchestrate genome functions. I’m deeply committed in unveiling the mechanisms that subtend the insurgence of complex genetic disorders, centring my research on the function of DNA repetitive elements, the so called “dark side” of the genome.
Q4: DNA repeats account for more than two thirds of the human genome. Our study highlights a novel epigenetic role of DNA repetitive elements in orchestrating gene transcription by shaping 3D genomic and chromatin architecture. Indeed the perturbation of this DNA repeat-mediated regulatory network could unveil unknown mechanisms at the base of other complex genetic disorders.
Susanna Croci
Susanna Croci Siena, Italy
Q1:October 25, 1991, Siena, Italy
Q2: PhD student
Q3: I choose a career in the genetic field because i would love to contribuite in the research of rare genetic diseases with the final goal of improving the life style of patients.
Q4: The project aim is to amploy CRISPR-Cas9 technique combined with AAVs system in order to correct the mutation in FOXG1 patients. I believe CRISPR-Cas9 gene therapy aim to cure the disease at the molecular level and it could be a possible treatment in Rett patients.
Elisa De Franco
Elisa De Franco
Q2: Postdoctoral Research Fellow
Q3: I’ve always loved to solve puzzles and finding answers. Put this together with a passion for science and a career in genetics was clearly my call.
Q4: Neonatal diabetes is a rare disease resulting in patients being unable to produce insulin from early after birth. There are many genes that cause this disease and using whole genome sequencing we are uncovering the role of genes that were not known to be important for insulin production, giving new insights into how the pancreas develops.
We have found 14 novel genetic cause of neonatal diabetes which means that now we can provide a genetic diagnosis for the vast majority of patients (89%) with improved treatment for 1 in 5 individuals
Ronald De Vlaming
Ronald De Vlaming Rotterdam, the Netherlands
Q1: August 4, 1987; Rotterdam, the Netherlands
Q2: Post doc
Q3: When I started as a PhD candidate, the aim of my research was to try to relate human behaviour and, more specifically, social-scientific outcomes to genes. This scientific endeavor, in which my colleagues and I tried to relate biologically distal, high-level outcomes to the building blocks of life (DNA), was – and still is – tremendously captivating.
Q4: There are many methods and parameters in the field of Statistical Genetics that are used to characterize the genetic architecture of highly polygenic outcomes, such as human behaviour. My research compares two important methods in this field, and shows there is a broader equivalence between these methods than previously known.
Dylan H de Vries
Dylan H de Vries Gouda, The Netherlands
Q1: 27 May 1994, Gouda, The Netherlands
Q2: PhD student
Q3: I’ve always been interested in biology, genetics and programming and this career allows for a good combination of all.
Q4: Our findings show that genetic variants don’t only affect gene expression, but can also change gene-gene co-expression, implying that the gene regulatory network of each individual is unique. As a consequence, we expect that our novel approach to identify the genetic variants that change these networks could aid in finding valuable targets for precision medicine.
Patrick Deelen
Patrick Deelen Rotterdam, The Netherlands
Q1: May 30, 1986, Rotterdam, The Netherlands
Q2: PhD candidate at the Genetics department of the University Medical Center Groningen
Q3: Initially I was primarily triggered by the challenge and the combination of biological research and the computational analyses. Now that I’m beginning to realize the future impact of genetics on general healthcare, I’m really excited about what we will be able to do to improve patient care in the years to come.
Q4: We show how we can prioritize variant of unknown significant based on the predicted phenotypic consequences of the affected genes. This will allow for the identification of previously unknown disease genes and reduce the time needed to report back the genetic testing results to a patient.
Susann Diegmann
Susann Diegmann Chemnitz, Germany
Q1: February 12, 1988 – Chemnitz, Germany
Q2: Postdoctoral researcher, Department of child and adolescent health in Göttingen, University Medical Center Göttingen, Working group neurodegenerative disorders with manifestation in child and adolescents of Prof. Jutta Gärtner
Q3: I am fascinated by the fact that all living beings with the greatest possible diversity that one can imagine are based on the same genetic code! The entire genetic variabilities often results in a viable form of life but one single variant can cause a disease.
Q4: We identified inborn de novo activating variants in NFE2L2 gene as the cause of an early onset multisystem disorder with neurological symptoms. So far, somatic activating variants in NFE2L2 are known to promote cell survival in cancer cells. Furthermore, we characterized clinical and biochemical markers for early diagnosis of the novel disease and successfully started to test treatment options.
Marija Dulovic
Marija DulovicSabac, Serbia
Q1: November 24, 1981 in Sabac, Serbia
Q2: Postdoctoral researcher, Institute of Neurogenetics at the University of Lübeck, Germany.
Q3: As a medical doctor and scientist I have been focused on the molecular mechanism underlying neurological diseases. My recent work at the Institute of Neurogenetics in Luebeck has included the identification and functional impact of novel disease-causing mutations. This work in the field of functional genetics serves my aim to gain a deeper molecular insight into the disease pathogenesis that might provide novel therapeutic advances.
Q4: Despite a wealth of known genes causing spastic ataxia , many cases remain etiologically unexplained, suggesting that further genetic heterogeneity remains to be discovered. In this study we demonstrated that biallelic mutations in VPS13D cause a movement disorder along the ataxia-spasticity spectrum. Furthermore, our functional data suggests that mutations in VPS13D have an impact on mitochondrial structure and function. This discovery makes VPS13D the new ataxia/spasticity gene and fourth VPS13 paralog involved in neurological disorder.
Umberto Esposito
Umberto Esposito Rome, Italy
Q1: October 25, 1985 in Rome, Italy
Q2: Research Associate at the University of Sheffield (UK)
Q3: Over the years, we have made great progress on our understanding about Life. But when we think about its complexity, we still know very little. Genetics offers an incredible opportunity to understand how humans, and in general living organisms, function and evolve.
Q4: The possibility of studying events and developments of thousands of years ago is fascinating. Thanks to the analysis of genetic data, we can uncover long-lasting questions about migrations and population mixing in the past. This research is another example of the power of modern genomics technologies to assist in helping us understand where we come from.
Mahmoud Fassad
Mahmoud Fassad Beheira, Egypt
Q1: April 23, 1985, Beheira, Egypt
Q2: I am a PhD student at Great Ormond Street Institute of Child Health, University College London.
Q3: During my medical studies, I realized that DNA is the mastermind of the human body. I was impressed by the uniqueness of each individual and how genes interact with environment to build what is meant to be a health status, and how if deviates, leads to disease. This generated inside me a profound interest in Genetics.
Q4: My research project focuses in using targeted NGS for novel gene discovery in primary ciliary dyskinesia, a rare genetic defect of cilia motility. I have identified disease-causing mutations to two novel candidates; the previously uncharacterized C11orf70 and dynein heavy chain DNAH9 genes. I used a unicellular multiciliate organism; Paramecium for functional characterization of these two genes. I was also able to show a striking population stratification and high impact recurrent alleles within a large multi-ethnic cohort of patients.
Victor Faundes
Victor Faundes Santiago of Chile, South America
Q1: September 17, 1985, Santiago of Chile.
Q2: PhD student and Clinical Geneticist
Q3: I like clinical work with a strong molecular basis, as well as helping not only one individual, but also her/his whole family
Q4: It emphasises that data mining for entire gene families along with the use of large scale studies can accelerate the discovery of novel gene-disease associations. This allowed us to associate 5 novel genes to developmental disorders, not only one or two as usual, which have been confirmed in parallel by other research groups.
Julie Feusier
Julie Feusier Fortuna, California
Q1: November 22, 1990, Fortuna, California
Q2: I am currently a PhD candidate in Lynn Jorde’s lab in the Human Genetics Department at the University of Utah.
Q3: Growing up, I have always loved solving problems and learning new things. I chose this career because I am fascinated with the new discoveries made in this field, particularly with identifying links between genes and disease.
Q4: Non-LTR retrotransposons are the only active group of transposons in humans. We are utilizing a unique dataset of WGS of original blood-derived DNA from the CEPH Utah cohort to identify de novo retrotransposons. My research will lead to the first direct estimate of the Alu, LINE-1, and SVA retrotransposition rates in humans.
Greg Findlay
Greg Findlay Berkeley, CA, USA
Q1: December 22, 1986, Berkeley, CA, USA
Q2: Postdoctoral research fellow
Q3: Understanding how the genome works involves solving so many puzzles. Now, with many new technologies providing methods to approach these problems, it feels like we’re poised for much success. To me, the great thing about human genetics is that the raw intrigue of basic science goes hand in hand with producing answers that can be rather consequential for people.
Q4: We used CRISPR/Cas9 to engineer and assay about 4,000 BRCA1 variants. We’re the first to use genome editing like this to comprehensively dissect a gene for functional effects. We delineate multiple mechanisms by which variants disrupt function, e.g. splicing, translation initiation, protein function, etc. Our results stand out for how accurately they predict variant pathogenicity, suggesting the data will be highly useful for interpreting variants of uncertain significance in BRCA1.
Laura Fontana
Laura FontanaMilan, Italy
Q1: March 28, 1984
Q2: Postdoctoral fellow at Universita degli Studi di Milano (Molecular pathology Lab, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico).
Q3: I chose a carrier in Genetics because I’m interested in understanding the pathomechanisms of hereditary diseases. I have always been fascinated by the complexity of our genome and its fine tuning regulation. It is precisely this complexity that stimulates me to understand its functioning and associated causes of disease.
Q4: The analysis of multilocus-methylation defects (MLID) in patients with imprinting disorders is particularly interesting because it is emerging as the new perspective of research of imprinting defects. The identification of MLID has, indeed, shed lights on the molecular defects underlying imprinting disorders, suggesting additional, never explored pathomechanisms.
Richard Fordjour Oppong
Richard Fordjour Oppong Obuasi, Ghana
Q1: May 10, 1988, Obuasi, Ghana
Q2: PhD Student at the IEB, University of Edinburgh
Q3: Molecular genetics was my favourite subject as an undergrad. I was given the opportunity to explore this subject further in my honours project in which I studied the genetic diversity of hibiscus plants using RAPD markers. This consolidated my interest in genetics research because I became aware of the potential for Agricultural improvement especially. I, however, moved on to work on human genomics project funded under the H3Africa initiative as a research assistant and instantly saw the appeal for a career human genetics. This inspired me to take up a PhD position at Edinburgh where I have been investigating statistical methods to dissect the genetic architecture of complex traits in human populations.
Q4: The primary aim of our research is to identify regions of the genome harbouring variants that affect the trait of interest, the novel aspect here is that we can capture rare genetic variants. As a consequence, we hoped to improve the estimates of the genetic components of variation in these traits which would influence actions aimed at reducing the burden of these traits on the population. In this project, we analysed major depression disorder (MDD), which is believed to be affected by rare genetic variants. Our analysis method led to the discovery of 32 novel regions harbouring 1156 SNPs for MDD. Our approach, therefore, presents an exciting new way of analysing complex human traits, which we believe will complement already existing approaches.
Courtney French
Courtney French Boston, MA, USA
Q1: February 22, 1985 – Boston, MA, USA
Q2: Postdoctoral Researcher at the University of Cambridge, UK
Q3: I’ve always been interested in why and how life exists in the many forms it takes, and so my main research interests include evolution and genetics. With current sequencing technology, the potential for discovery in the field of human genetics is at an all-time high. I’m looking forward to seeing what we learn about ourselves and am excited for the opportunity to work on a project that impacts people’s lives.
Q4: We’ve performed whole genome sequencing for over 145 severely ill babies and children, and their parents, in order to find a rapid genetic diagnosis. Currently, we can turnaround a diagnosis in about a month, having checked for most rare genetic disorders all at once. In addition to demonstrating the feasibility of using whole genome sequencing in such a context, we are gaining novel insight into how rare disorders present in infants.
Andrea Ganna
Andrea Ganna Italy
Q1: November 10, 1985. Italy
Q2: Postdoctoral Fellow
Q3: I’m always been fascinated by the genetics of human behaviors and how inherited characteristics impact personality traits. The GWAS revolution has brought an unprecedented opportunity to explore, using large sample sizes, the continuum existing between personality traits and personality disorders. I’m happy to be part of this revolution.
Q4: This is the first large-scale study of sexual orientation. We were able to estimate the heritability of sexual orientation, identify associated variants and address some unanswered evolutionary hypothesis. This is a big result for a field that has seen many small studies reporting contradictory results. We think this is an important rigorous study about a controversial topic that is of great interest to both the general public and the scientific community.
Molly Gasperini
Molly Gasperini
Q2: PhD student
Q3: Human genetics is a terrific combination of my three passions: people, puzzles, and nature. This is the perfect career in which I can forever be striving to understand people through the riddle of their DNA, while also hopefully contribute to the understanding of human disease along the way.
Q4: Noncoding variants found in patients’ whole genome sequences are currently very difficult to interpret. Even if the variant falls in an annotated candidate regulatory element, it is often unclear which genes are ultimately affected. My research seeks to test noncoding sites for regulatory function, and simultaneously connect them to their target gene(s) at massive scale.
Vincent Gatinois
Vincent Gatinois Reims, France
Q1: May 27, 1982, Reims (France)
Q2: I am a medical cytogeneticist. I’m working at the public hospital of Montpellier, in the South of France. I’ve defended my PhD in November, about induced pluripotent stem cells and premature aging diseases. Now I would like to develop the NIPT for large chromosome abnormalities.
Q3: For the love of chromosome, of course! The prenatal questioning and the place of new technologies in choice of couple are essential topics for me.
Q4: In this project, I’ve worked about premature aging diseases. The ultimate goal was to better understanding the pathological aging in the aim to better understand the physiological one. During this project, I’ve handled induced pluripotent stem cells. I was able to differentiate them to final cell lines, like adipocytes. It was amazing to see their infinite capacity of division and development!
Olga Giannakopoulou
Olga Giannakopoulou Patras, Greece
Q1: August 8, 1988 – Patras, Greece
Q2: I am at the final year of my PhD studies at the William Harvey Research Institute, Queen Mary University of London, UK
Q3: I decided to be a researcher in this field because I have been always fascinated with the potentials of genomic data and how they could revolutionize medical diagnosis and drug development.
Q4: Despite advances in medical therapy, recurrent cardiovascular events remain common and are associated with significant morbidity and mortality. However, their aetiology is still poorly understood. Aiming to a greater understanding of recurrent MI determinants, we performed a GWAS in the large prospective cohort of UK-Biobank and gene-expression analyses in a dataset of MI survivors (GRMIC), identifying 27 susceptibility loci.
Elisa Giorgio
Elisa Giorgio Italy
Q1: May 29, 1984
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 is an instructive and unique example of a neurodegenerative disorder associated with both coding and noncoding CNVs at the LMNB1 locus, corroborating that breaking TADs represents an emerging pathogenic mechanism that should be taken into account into clinical interpretation of CNVs.
Alina C. Hilger
Alina C. Hilger Bonn, Germany
Q1: July 19, 1989, Bonn, Germany
Q2: Resident physician in pediatrics, postdoctoral fellow
Q3: For me, genetics is a fundamental element of life as all biological mechanisms find their origin in genetics. So do rare congenital malformations. Identifying genetic factors in congenital malformations and thereby helping to better understand developmental processes fascinates me. The reasonable chance to possible be able in the future to tell parents and patients the reason and mechanism of a malformation increases my interest in genetics and motivates me.
Q4: Congenital lower urinary tract obstruction (LUTO) are the most common reason for childhood renal insufficiency leading to dialysis and renal transplantation. Thus, the identification of causal genes should be of great interest. Although multiple affected families strongly suggest a genetic background no genetic causes could be identified so far. Our study presents the first genetic cause of LUTO. Furthermore, it introduces the zebrafish as a valuable model organism for LUTOs.
Lara Maleen Hochfeld
Lara Maleen Hochfeld Kall, Germany
Q1: June 21, 1989, Kall, Germany
Q2: I am a PhD student at the Institute of Human Genetics in Bonn (Germany) working in the group of Dr. Stefanie Heilmann-Heimbach.
Q3: I have loved biology since high school. Through my studies of biomedicine, I became aware of genetics and was captivated by its contribution to health and disease. Working in the field of genetic research gives me the opportunity to take an active part in better understanding the genetic mechanisms that underlie disease development and thereby contribute to the development of novel diagnostic and therapeutic options.
Q4: I am working on androgenetic alopecia (AGA), a complex genetic phenotype and the most common type of hair loss in men. What fascinates me most about this topic is that AGA is a well-known condition, but we understand very little about the underlying pathobiological mechanisms. GWAS were quite successful in the identification of genetic risk factors, and our group has substantially contributed to these successes. However, functional annotation of the associated variants is still challenging because the majority of them are located in non-coding regions. In the work I am presenting we provide the first evidence for a functional interaction between two candidate genes identified through GWAS.
Kristina Ibáñez-Garikano
Kristina Ibáñez-Garikano Tolosa, Spain
Q1: December 22, 1985, Tolosa, Spain
Q2: Senior rare disease analyst, 100,000 Genomes Project, Genomics England
Q3: I have been always curious and intrigued about medicine and genomics. Human genetics, in particular, is an exciting discipline since we can unravel the functional relevance of genes and mechanisms underlying genetic disease phenotypes. Having studied computer science, specialising in machine learning techniques, I started my PhD initially harnessing the power of microarray data deciphering the connection of genes and disease-comorbidities between some neurodegenerative disorders and cancer. Now with the advent on whole genome sequencing technologies, exciting opportunities arise in human genetic research, putting together data from different sources (clinical data, external databases, genotype-phenotype associations, drugs and pharmacogenomics) with the aim to characterise rare diseases.
Q4: A large proportion of DNA consists of repetitive sequences, covering nearly half of the human genome. Short tandem repeats (STRs) consist of repetitive elements of 2–6 nucleotides, comprising ∼3% of the human genome. While our progress in sequencing technologies and computational tools in the last 20 years has led to a huge advancement in determining single nucleotide variants, the gold standard used to genotype STRs are PCR-based techniques coupled with capillary/gel electrophoresis or Southern blot analysis. These techniques are difficult to apply in high-throughput screening studies and do not allow to define a comprehensive catalogue of genome-wide STRs. Here, we propose a bioinformatic pipeline to detect and report STRs from whole genome sequencing data as part of a new genomic medicine service for the NHS in England.
Marc Jan
Marc Jan Tolbert
Q1: March 28, 1989, Tolbert
Q2: Postdoctoral fellow
Q3: I want to understand how both genetics and environments are influencing biological phenotypes and disease. By using my bioinformatics and statistical genetics and integrating data derived from multiple biological omics I hope to gain more knowledge health and disease.
Q4: The prospect of using induced pluripotent stem cells to model diseases in the most relevant tissue is huge. But we believe hat using data derived from the iPS cells itself can be as interesting by looking into genetic variants linked to disease and there effects on gene expression we hope to gain better understanding about general regulatory pathways which are not observed in differentiated tissues.
Katherine Johnson
Katherine Johnson
Q1: 1988, Newcastle, United Kingdom
Q2: Research Associate at Newcastle University
Q3: I was always interested in science at school. I think it is 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. The cohort consists of over 1000 patients and it is still growing. These debilitating diseases are extremely rare in the general population, but collectively affect many people. The patients have a reduced quality of life and some conditions have a reduced life expectancy. By sequencing the exomes of so many affected individuals, we are able to decipher the true genetic cause of rare muscle diseases, explaining how single DNA changes have such huge consequences.
Liis Leitsalu
Liis Leitsalu Tallinn, Estonia
Q1: July 27, 1985 Tallinn, Estonia
Q2: Researcher and genetic counselor
Q3: I was interested in understanding a little better why we are the way we are through studying the code of life.
Q4: Previously, individuals got tested in clinical context and due to a particular concern. Now, largely due to huge population biobank initiatives, healthy individuals genomes get mapped, and clinically significant findings can be uncovered. This potentially unexpected information raises the questions on how such risk information should be communicated, how it is perceived, and what the overall impact of such genetic information is? Our research addresses these questions.
Luzia Linhares Garrido Fernanda
Luzia Linhares Garrido Fernanda Barcelos, Portugal
Q1: September 5, 1979 in Barcelos, a city on the north of Portugal.
Q2: I am responsible for the management of the Oncogenetic Consultation at Hospital S. João, Porto.
It is my responsibility to assess the priority of all requests for this consultation, and shedule them accordingly.
I participate in the genetic counselling of patients and relatives thereof, and I manage the patient database of this consultation.
Q3: When I started working at the Oncogenetic Consultation I realized how fascinating this area was, how important it is to identify hereditary cancers, how the identification of the germline alterations underlying cancer susceptibility can impact the life of affected patients and their close relatives, and how genetic counselling can empower patients and/or relatives to make sensible choices.
Q4: My research illustrates how an organized and mutidiciplinary team involved in Oncogenetics can have a positive clinical, as well as economic impact. By identifying among relatives of patients with hereditary cancer those who carry the causative genetic alteration and those who don’t, a rational allocation of economic resources is possible, whereby expensive and stressful surveillance programs are applied only to the ones who benefit from these measures most.
Elena Loizidou
Elena LoizidouLarnaca, Cyprus
Q1: August 12, 1989 in Larnaca, Cyprus
Q2: Data Scientist in Biostatistics/Computational Biology – recent PhD graduate
Q3: Fascinated by Statistics and Biology, I decided to combine the two areas and become a Statistical Geneticist. I particularly focused on genetics because I wanted to explore the impact that this field can have on several phenotypes/traits when combined with other risk factors.
Q4: The interest of our research lies in the novelty of the CNV-tagging SNPs identified using different datasets and which are linked to various diseases/traits. These are of great importance as they can be used to potentially explain the issue of “missing heritability”. Part of the CNV-tagging SNP affected loci will also benefit drug-repurposing as we found examples being already defined as drug-target genes.
Ana Rita Marques
Ana Rita Marques Santo-Tirso, Portugal
Q1: June 15, 1987 – Santo-Tirso, Portugal
Q2: PhD student at the Biosystems and Integrative Sciences Institute and the National Institute of Health Doutor Ricardo Jorge (Lisbon, Portugal)
Q3: One day, at the Secondary School, I was finishing my Biology exam and I felt so happy with genetics subject that I did not want that feeling to stop, so I continued drawing family pedigrees until everybody left. That day I realized that genetics would be my passion.
Q4: Genetic factors highly contribute to Autism Spectrum Disorder (ASD) risk, however most of these factors are still not known. I expect my work to give an important contribution to the field though the identification of genetic variants targeting regulatory RNAs in ASD patients. These findings may contribute to a better and earlier diagnosis, which would benefit patients and their families.
Francesca Mattioli
Francesca Mattioli Ferrara, Italy
Q1: November 3, 1988 Ferrara, Italy
Q2: PhD student in the Institute for Genetics and Molecular and Cellular biology (IGBMC), Strasbourg, France
Q3: I have been always fascinated by the complexity of the human genome and how a genetic change causes a human disease. I am interested in understanding the molecular mechanisms implicated in a disease, as it will help in the development of targeted treatment.
Q4: Our research focuses on the identification of novel genetic causes of monogenic forms of intellectual disability (ID), a neurodevelopmental disorder characterized by an extreme genetic heterogeneity.
Here we describe two novel ID genes coding for proteins involved in RNA metabolism, highlighting the important role of RNA metabolism alterations in neurodevelopmental disorders.
Pala Mauro
Pala MauroItaly
Q1: January 19, 1980
Q2: I’m a post-doc at the IRGB-CNR. I analyze genomics/transcriptomics high-throughput data with bioinformatics tools.
Q3: I’ve always had the passion for genetics and mathematics and enjoyed working in biomedical research.
Q4: I am presenting a manually-curated catalog of published eQTLs studies, coupled with a web application, useful for both bioinformaticians and molecular biologists. Bioinformaticians could retrieve standardized eQTLs metadata/results for downstream analysis. Molecular biologists could easily determine through the web interface whether and how a genetic variant impacts gene expression levels.
John McDermott
John McDermott Preston, United Kingdom
Q1: February 11, 1991, Preston, United Kingdom
Q2: I am currently employed as a National Institute for Health Research (NIHR) Academic Clinical Fellow in Genomic Medicine. I am enrolled in the Core Medical Training program which will culminate with registrar training at the Manchester Centre for Genomic Medicine.
Q3: Our understanding of the human genome continues to advance exponentially and my career begins as we develop approaches to tangibly action these advancements. Gene editing, rapid diagnostics and population-level genome projects all offer methods to predict and prevent disease. This creates a new healthcare paradigm with stimulating technical and ethical challenges, which I am excited to work towards solving.
Q4: Approximately 1 in 500 individuals possess a mitochondrial variant which, if exposed to aminoglycoside antibiotics, results in profound sensorineural deafness. Current testing can take several days, therefore in the acute setting testing has been impossible. We developed a point-of-care-test, allowing variant identification in around 40 minutes. This work exemplifies how rapid molecular testing can allow genomics to permeate everyday healthcare.
Sabrina Méchaussier
Sabrina Méchaussier Bourg-en-Bresse, France
Q1: June 13, 1993, Bourg-en-Bresse, France
Q2: PhD student at the Laboratory of Genetics in Ophthalmology (LGO), Imagine Institute, Paris
Q3: Genetics, and specifically human genetics is a fascinating discipline, and I have always had a strong interest in research and understanding complex mechanisms leading to rare diseases. Correlating, clinical features of patients and genetic data, helps to understand the molecular interactions involved in these diseases and to bring out new mutated genes. Even if genetic technologies are in perpetual evolution, many genes haven’t been described and lots of patients don’t have exact diagnosis of their disease. Investigation of physiopathological mechanisms and discovery of new genes are, for me, the most motivating aspects of this field.
Q4: The rare genetic disease I work on is an association between sensorineural congenital hearing loss and Leber congenital amaurosis. Exome analysis allowed us to identify the TUBB4B gene, encoding a member of tubulin-β family, as a novel syndrome gene for disorder of microtubules dynamics. This study participates in the elaboration of genotype/phenotype correlation which will allow an easier diagnosis for patients. Molecular analysis of the sensorineural diseases could allow to create specific group of patients for future therapeutic trials.
Natalia Mendoza Ferreira
Natalia Mendoza Ferreira Popayán, Colombia
Q1: January 21, 1985. Popayán, Colombia
Q2: I am a PhD student in the Institute of Human Genetics of the University of Cologne (Germany).
Q3: I always believed that Genetics is a fascinating field of study, as the DNA sequence harbors the blueprint that determines all living processes. I choose a career in human genetics because I want to contribute to the unraveling of genetic determinants of human disease and to the development of effective disease treatments. The characterization of novel disease genes encompasses a variety of fields including: genetics, biochemistry, medicine and cell biology. This multidisciplinary integration is the foundation of my scientific work and the pillar of my enthusiasm for human genetics research.
Q4: Despite the fact that the genetic cause of some autosomal recessive cerebellar ataxias (ARCAs) is known; more than half of the patients with a suspected ARCA will not receive an accurate genetic diagnosis. A better understanding of the molecular mechanisms underlying these disorders is of utmost importance to both uncover novel disease determinants and dissect relevant molecular pathways underlying ataxia pathogenesis. Following a combination of various in silico, in vitro and in vivo strategies, we unraveled biallelic mutations in CHP1 as a novel cause of Autosomal Recessive Cerebellar Ataxia (ARCA). Moreover, our functional characterization studies have shed light onto a molecular mechanism poorly explored in the field of cerebellar ataxias: pH homeostasis deregulation as cause of axonal degeneration.
Elisa Molinari
Elisa Molinari Milan, Italy
Q1: December 20, 1987, Garbagnate, Milan, Italy
Q2: Postdoctoral research associate at Newcastle University
Q3: I chose a career in genetics because I am fascinated by basic science but I like to see the tangible results of my efforts. Basic science research in genetics has the most practical application of all, to cure people, which makes genetics one of the most powerful applied sciences. Certainly I didn’t choose a career in genetics because running a PCR is fun!
Q4: The study I am presenting at the conference shows for the first time efficacy of exon skipping therapeutic strategy in the treatment of cystic kidney in incurable renal ciliopathy syndromes such as Joubert syndrome and supports the notion that personalised medicine therapies will provide novel options for the future, especially in the arena of rare disease.
Anna Morgan
Anna MorganConegliano, Italy
Q1: October 22, 1988 in Conegliano, Italy
Q2: Postdoctoral fellow at the University of Trieste
Q3: Since my first Genetics course at 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 age-related hearing loss (ARHL). ARHL is the most common sensory impairment in the elderly, affecting millions of people worldwide. It is a complex disorder, caused by both environmental and genetic factors, and despite the numerous advances in sequencing technologies, its genetics has not been fully understood yet. Thanks to a multidisciplinary approach, we identified a new gene involved in the pathogenesis of ARHL, opening new important perspective in terms of diagnosis, prevention and treatment.
John Morris
John Morris Toronto, Canada
Q1: Toronto, Canada
Q2: PhD Candidate
Q3: My career in genetics combines two of my passions: the study of human genetics (thanks to consuming a lot of science fiction growing up) and the desire to make make an impact in the clinic. For my PhD, I am studying the genetic determinants of bone mineral density (BMD), the most clinically relevant risk factor for osteoporosis, a common aging-related bone disease. I was attracted to the successes of genome-wide association studies of BMD correctly identifying known osteoporosis drug targets and concluded that I could identify new osteoporosis drug targets through the identification of novel genes and proteins associated with BMD.
Q4: I will be presenting a large-scale genetic study to identify novel drug targets for osteoporosis and further our understand of its biological causes: a genome-wide association study of estimated BMD measured by quantitative heel ultrasounds in over 400,000 individuals. Here, we identified hundreds of novel associated genes using human functional genomics data and functionally validated top candidates with an in-depth mouse screening pipeline.
Sophie Nambot
Sophie NambotBesançon, France
Q1: December 21, 1987 Besançon
Q2: Medical resident in genetics
Q3: Genetics is so vast and amazing that I was sure to never be bored in my work. It offers so many choices of careers, and evolution of knowledge in this domain is incredibly rich. Moreover, it asks ethical questions that concern everyone, as much at the individual as societal level. Finally, even if we don’t provide treatment, we greatly help the patients and their families by providing a cause to the disease.
Q4: The research I present at the conference is of interest because it proposes to go further in the diagnosis of congenital anomalies and intellectual deficiency. To go beyond the stringent criteria of the ACMG recommendations in variant interpretation, we performed a systematic research analysis of negative WES of 500 patients. Through this work, we could we identified or contributed for the identification of 45 disease-causing genes or candidates.
Christina Paliou
Christina Paliou Athens, Greece
Q1: January 2, 1988 in Athens, Greece
Q2: PhD student at the Max-Planck-Institute for Molecular Genetics in Berlin
Q3: During my Bachelor studies, I had the chance to get an insight in all the different fields of Biology, from ecology and plant biology to immunology and genetics. This variety helped me realize that I was very interested in the mechanisms leading to human disease and the field of genetics holds most of the answers to that.
Q4: Shh is a developmental gene that is very tightly regulated but very often misexpressed, leading to various pathologies. I am investigating the precise regulation through the 3D organisation of the Shh locus during limb development. The mechanism we describe could explain other regulatory mutations found in the genome.
Ilaria Parenti
Ilaria Parenti Magenta, Italy
Q1: May 31, 1987 – Magenta, Italy
Q2: Postdoctoral Researcher at the Section for Functional Genetics at the Institute of Human Genetics, University of Lübeck
Q3:During my studies, I soon developed a strong interest for the human genome: I was fascinated by its complexity and intrigued by the link between genetic variation and disease. Currently, my job allows me to explore this link through the investigation of pathogenic mechanisms associated with different mutations and of their consequences on phenotypes.
Q4: Cornelia de Lange syndrome (CdLS) is a neurodevelopmental disorder mainly caused by mutations in NIPBL. We report the first mutation in MAU2 (NIPBL binding partner) in a patient with CdLS. Functional investigations revealed a new pathogenic mechanism that results in decreased NIPBL protein levels upon functional alteration of MAU2. Our data also proved the existence of protective mechanisms preventing a total loss of NIPBL by the use of alternative translation initiation codons in transcripts with early truncating mutations.
Jiayi Pei
Jiayi Pei
Eleonora Porcu
Eleonora Porcu Cagliari, Italy
Q1: August 21, 1984, Cagliari, Italy
Q2: I am currently working as a postdoctoral researcher at the University of Lausanne.
Q3: Coming from a mathematical background, I was attracted by the opportunity to apply my knowledge in statistics and programming to genetic data in order to improve the understanding of the biological mechanisms underlying human complex traits.
Q4: I will present a Mendelian Randomization approach which integrates summary-level data from GWAS and eQTLs studies to estimate the causal effect of the gene expression on several human phenotypes. I believe that our findings are of great interest as we identify novel putative causal genes which will give more insight into the mechanisms of complex traits.
Mario Reiman
Mario Reiman Estonia
Q1: February 20, 1991, Rakvere
Q2: PhD student
Q3: I am exited about the growing potential of gene technology. I am also hoping that some time in the future my research would help people with prenatal testing and family planning.
Q4: My research provides a novel perspective for upcoming and already existing placenta related analyses.
Antoni Riera-Escamilla
Antoni Riera-Escamilla Catalonia, Spain
Q1: June 30, 1989 – Prats de Lluçanès, Catalonia, Spain
Q2: Postdoc at Fundació Puigvert, Barcelona, Catalonia, Spain
Q3: I have been interested in Genetics ever since I was an adolescent, when I started to cross Drosophilas in my garage. Later on at college, I was fascinated by this field under the influence of great professors. So I started my professional career in Genetics, so that one day I could make my small contribution.
Q4: The X chromosome bears an unexpectedly high number of genes specifically expressed or overexpressed in the testis. Its role in spermatogenesis has been previously investigated through arra-CGH analyses and re-sequencing of a few candidate genes. This study represents the first comprehensive screening of all X chromosome-linked genes in 50 highly selected azoospermic patients. The integration of the X-chromosome gene-panel data with that obtained from exome studies allowed us to identify recurrently mutated genes with potential clinical relevance. X-linked gene mutations have a potential direct effect on protein function due to the lack of a compensating normal allele in male. This study is an important step towards the establishment of a diagnostic gene panel for specific pathological testis phenotypes.
Sara Reynhout
Sara Reynhout Ghent, Belgium
Q1: September 8, 1992, Ghent, Belgium
Q2: PhD student
Q3: I’ve always been interested in the correlation between our genes and our behavior, physique and illness. Many pathologies can be traced back to genetic defects. On the other hand, particular mutations do not always induce similar phenotypes. It’s the interplay between both that I find particularly interesting.
Q4: These particular patients have mild to severe intellectual disability, caused by a single point mutation in the gene coding for PP2A. It is intruiging that such an elaborate, variable phenotype is caused by a rather small genetic defect. We are investigating the underlying pathways and want to find mechanisms to ameliorate the symptoms.
Vasilina Sergeeva
Vasilina Sergeeva Kazan, Russian Federation
Q1: 08.02.1992, Kazan, Russian Federation
Q2: Researcher
Q3: My grandmother is a geneticist and it has always been my dream to follow in her footsteps.
Mahsa Shabani
Mahsa Shabani Zanjan, Iran
Q1: 02 April 1984, Zanjan, Iran
Q2: Postdoctoral Researcher
Q3: I am fascinated with the potentials of genomic data and how they could revolutionize medical diagnosis and drug development. In my research, I focus on the ethical, legal and social challenges associated with processing genomic data, and investigate the adequacy of the relevant policies and safeguards. Working on the ethical and legal aspects of genetic testing and genomic research provided me with great opportunity to contribute to a very dynamic interdisciplinary field, which is at a crossroad of science and society.
Q4: In our research we address three main issues, namely, data storage policies and practices of clinical laboratories, patients’ access to raw data, and sharing of raw data by individuals. As Whole Exome Sequencing and Whole Genome Sequencing become more embedded in diagnostics, it is timely to consider how current data storage policies align with patients’ rights and interests to access raw data, and how these rights can be managed in the clinical setting.
Raquel Silva
Raquel Silva Coimbra, Portugal
Q1: November 7, 1991, Coimbra, Portugal
Q2: PhD student at UCL Institute of Ophthalmology
Q3: The genetic code is translated into the building blocks that shape life. The strict control of such process is regulated in time, cell type, amount and length. I believe trying to uncover this cypher is the most rewarding task and has direct implications in my studies of a set of unsolved rare congenital disorders.
Q4: Macular degeneration is the leading cause for central vision blindness in the western nations. Patients with an abnormal developmental of this structure have alterations in the non-coding part of genome that accounts for 98% of 3 billion letters. We are uncovering novel molecular mechanisms and possible non-coding genetic drivers of macula development that may help develop treatments for central vision loss.
Shruti Singla
Shruti Singla Punjab, India
Q1: November 19, 1991 in Bhatinda, Punjab, India
Q2: Third-year PhD Student at the University of Cambridge, UK in the lab of Prof. Magdalena Zernicka-Goetz
Q3: I chose to pursue a career in developmental biology after working on an internship project at the University of Cambridge towards the end of my B. Tech. I was highly intrigued by the field since it helps us understand the processes involved in cell fate decisions. Genetics is an integral tool in the study of development. It not only strengthens our basic understanding of the body but offers clinical applications as well.
Q4: The work that I present at the conference gives an insight into the mechanisms behind sub-fertility and what kind of defense mechanisms are employed by a mammalian system in ensuring only the healthy cells proceed through development. This finding may be of clinical significance.
Lot Snijders Blok
Lot Snijders Blok Sneek, The Netherlands
Q1: April 24, 1987 in Sneek (The Netherlands)
Q2: PhD Student
Q3: Because I think it’s the most fascinating, surprising and always-changing biomedical field. Also, because it gives me as a medical doctor the possibility to combine thinking about molecular mechanisms with the patient care & rare disorders: for me a perfect combination!
Q4: I’m presenting my research about CHD3, a gene (encoding a chromatin remodeler) in which we found de novo mutations in patients with neurodevelopmental disorders. I’ll present the clinical and mutational spectrum associated with CHD3 mutations, and functional work to support our conclusions. What I personally like most about this study is the fact that different fields of genetics come together: from the patient/clinic to the molecular biology behind it. And the fact that science is always surprising and leading to more (new) questions: although we were able to functionally validate most of the variants that we tested, there are still a lot of questions about why/how some variants behave in the assays the way they do…so plenty of ideas for future research on this topic!
Sarah Louise Stenton
Sarah Louise Stenton Crewe, United Kingdom
Q1: July 4, 1991 Crewe, UK
Q2: 1st year PhD student
Q3: As a medical doctor with a keen interest in rare disease research, aspiring to a career in genetics with the opportunity to apply advanced genomic techniques in unravelling the complexities of disease pathophysiology and in deciphering their aetiology, is a natural choice for me. I am inspired by the possibility that – at least conceptually – we may soon provide a molecular diagnosis to all those affected by a rare disease, offering the key to development of much needed therapeutic strategies.
Q4: The research project I will present at the ESHG conference is in deciphering the complex genetic architecture of mitochondrial diseases by the systematic analysis of over 1000 whole exome sequence (WES) cases, where we address the challenges faced in defining diagnostic criteria and further elucidate the heterogeneous genetic underpinning of mitochondrial disease.
Tzung-Chien Hsieh
Tzung-Chien Hsieh Miaoli City, Taiwan
Q1: April 11, 1989 Miaoli City, Taiwan
Q2: PhD student at Institute for Genome Statistics and Bioinformatics at University of Bonn
Q3: With the gaining popularity of next-generation sequencing, the call for developing and applying computational model and novel algorithm to analyze genetic disorders has become urgent. Therefore, developing computational approach on bioinformatics problems to save people who suffered from genetic diseases and thus increase the overall well-being is always the strongest motivation for my study.
Q4: We designed the knowledge base Deep Phenotyping for Deep Learning as a public resource to compile similarity scores from next-generation phenotyping (NGP) tools and performed a cluster analysis on currently 1216 cases with monogenic disorders. We were able to reproduce molecular interactions by information encoded in the facial gestalt by using NGP tools. Thus, the phenotype space exploration is a promising subject in the characterization of gene function.
Elke van Veen
Elke van Veen Vlissingen, The Netherlands.
Q1: July 9, 1988, Vlissingen, The Netherlands.
Q2: I am a PhD student at the University of Manchester.
Q3: During my undergraduate studies, I became fascinated by genetics, by its simplicity and complexity at the same time. I enjoy that my research can have a direct impact on peoples lives.
Q4: We found two breast/ovarian cancer families with transgenerational promoter methylation of BRCA1. Transgenerational promoter methylation is a very rare phenomena and has only been described for genes involved in familial colorectal cancer, MLH1 and MSH2. This new mechanism for familial breast/ ovarian cancer may have important implications for diagnostic testing of patients at high-risk of breast/ovarian cancer and for optimum treatment selection.
Laura Vandervore
Laura Vandervore Vilvoorde, Belgium
Q1: August 25, 1992 at Vilvoorde, Belgium
Q2: PhD student
Q3: There are many reasons why I am so dedicated and excited about working in the field of genetics. Genetics research not only enables better genetic counselling and prenatal genetic diagnosis for the affected families, but will also improve the diagnostic rate of unsolved patient cases (through reporting of novel genes causing these phenotypes and linking disease mechanisms and pathways). The uncertainty of a molecular diagnosis for patients and their family is something I have experienced first-hand. A few years ago, a family member was diagnosed with epilepsy, although no cause was identified. He now has to take medication for an unknown period of time. I believe that advancement in the field of genetics can improve the quality of life for a lot of patients and their families and have an impact on modern medicine. My research focuses on the function of genes involved in malformations of human cortical development. Studying the genetics of neurodevelopmental disorders might uncover new key components of normal brain development and improve our general comprehension of how neurogenesis, proliferation, apoptosis, differentiation and migration pathways eventually lead to the formation of one of the most complex organs in the human body, the brain. To conclude, I firmly believe that genetics will form the basis of all medical fields in the future.
Q4: In our research we studied the function of the RTTN gene involved in multiple phenotypes of brain cortex developmental disorders, some associated with microcephaly, some with cortex malformation without microcephaly. Up till now it was elusive how this gene could influence different pathways of cortical brain development. We linked the gene to mitosis, apoptosis, ciliogenesis and neuronal migration, explaining the heterogeneous cortical phenotype among all RTTN patients. The realization that different variants in one gene can lead to different outcomes in patients due to the effect on different pathways, can facilitate interpretation of variants in molecular diagnosis of RTTN patients worldwide. It is intriguing to realize that genes involved in cortical malformations can influence multiple stages of cortical development, leading to a much broader disease spectrum than anticipated after the initial description of phenotypes.
Sebastiaan Vanuytven
Sebastiaan Vanuytven
Q1: January 13, 1992, Geel, Belgium
Q2: First year PhD student in the Laboratory of Reproductive Genomics (KU Leuven, Belgium) and Cancer Genomics Laboratory (Francis Crick Institute, United Kingdom)
Q3: Fascinated by the discovery of p53 as the central gatekeeper in cancer and observations of clonal expansion and cancer(-like) states in cells treated with retroviral vectors, I started my university education in Biomedical Sciences (2010) and Bioinformatics (2015). During my PhD and further scientific career, I hope to contribute to the unraveling of the interplay between (epi)genome, transcriptome and nuclear architecture in tumour growth and development, potentially illuminating path(s) to more effective therapy.
Q4: In this project, Genome & Transcriptome sequencing (G&T-seq) was employed for the first time to study simultaneously the DNA and RNA of single cells isolated from patient-derived tissues. Using this methodology, we were able to unambiguously study the effect of copy number state on the transcriptome in breast cancer to an unprecedented extent.
Furthermore, I will highlight new technological/computational advancements of our lab to study the complete phenotype of a single cancer cell.
SIlvia Vidali
SIlvia Vidali Pordenone, Italy
Q1: August 19, 1985- Pordenone, Italy
Q2: PostDoc
Q3: I am quite new in the field of genetics, but I believe it is very important and prominent for the future of medicine. Thanks to the continuous advancement of more sophisticated techniques in mutagenesis, functional genomics and bioinformatics, the genetic field is becoming fundamental for diagnostics, pharmacology, prevention medicine and therapy development. Moreover, I believe that genetics is an essential bridge connecting the bench to the bedside.
Q4: The work I present here is a multidisciplinary effort, were medical doctors and scientists work together to understand a very rare mutation impairing the mitochondrial cytochrome bc1 complex (UQCRH). The human phenotype shares similar traits with patients presenting different alterations affecting the cytochromes b or c. This suggests that a common underlying mechanism could be causing the symptoms. Understanding the cause(s) could be an important step towards the development of a treatment for patients with cytochrome b and/or c defects.
Michiel Voskuil
Michiel Voskuil Nieuwegein, the Netherlands
Q1: September 10, 1991, Nieuwegein, the Netherlands
Q2: MD/PhD student (opportunity to combine medical school with a Ph.D.-training to obtain a M.D. and Ph.D. degree upon completion)
Q3: Driven by the extremely complex pathogenesis of inflammatory bowel disease and the fact that we don’t have a cure for these widespread diseases. I’m confident that genetic research can greatly contribute to our understanding of the disease and elucidate potential for therapies.
Q4: For the first time, we show, on a single cell resolution, which immune cells can be targeted by which drugs, making use of location and disease specific human tissue.
Dina Yagel
Dina YagelNahariya, Israel
Q1: September 22, 1981 in Nahariya, Israel.
Q2: For the last five years, I have been a part of the Molecular Metabolic lab headed by Prof. Anikster.
Q3: The genetics is a fascinating area. When entering graduate school I was amazed to see the revolution that genetics is undergoing due to the great improvement in the technology to study genetic disorders. I decided that this is the best direction for me to make a real impact on people’s life.
Q4: I believe that this research would lead to a simple and practical treatment for the patients. In addition to the specific disease we are focusing on our work is widely applicable since issues related to splice mutations are relevant to many genetic disorders.
Alessandra Zanon
Alessandra Zanon Bolzano, Italy
Q1: October 15, 1983, Bolzano
Q2: Senior Researcher at the Institute for Biomedicine, Eurac Research, Bolzano, Italy
Q3: Research in genetics is driving progress in the field of biomedical research. I am using genetic technologies to better understand and elucidate the molecular mechanisms underlying Parkinson’s disease (PD) and use the knowledge gained through this to create opportunities to create more clinical impact.
Q4: Mitochondrial dysfunction has been a longstanding theme implicated in the etiology of PD. My research has uncovered a previously uncharacterized interaction between parkin and SLP-2 in the mitochondria that provides a target mechanism for potential rescue of mitochondrial dysfunction caused by mutations in the Parkin gene. We are excited by the observation that altering the concentration of some of the components in the pathways discovered by this research are able to correct mitochondrial function in the presence of pathogenic Parkin mutations. Indeed the rescue of mitochondrial phenotypes also extends to other mutations in genes causing Parkinson’s disease such as PINK1. These results are exciting for us as they open up new avenues for potential therapeutic rescue of mitochondrial function that can contribute to Parkinson’s disease therapies. It remains to be tested whether manipulation of the pathways we have uncovered can provide eventual therapeutic benefit to patients, but we are actively pursuing this line of evidence further.
David Zhang
David ZhangBradford, England
Q1: January 28, 1994 in Bradford
Q2: Research Assistant, part-time PhD
Q3: Genetics allows me to combine my practical enjoyment of computational analysis with my interest in human biology.
Q4: Our power to detect genetic variation exceeds our ability to interpret it. Our interpretation is fundamentally reliant on our genome annotation, which currently remains incomplete. We highlight the consequence this has on genetic diagnosis and demonstrate how improving existing genome annotation can improve our the diagnostic yield of existing genetic tests.