Poster Award Candidates

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

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

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

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

Q1: May 25, 1984 – Meerbusch, Germany

Q2: Postdoc

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

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

Q1: September 24, 1986 – Berlin (Germany)

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

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

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

Q1: June 18, 1993 – Rodalben, Germany

Q2: MD student

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

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

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

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

Q1: September 12, 1992 – Nijmegen, Netherlands

Q2: PhD student

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

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

Q1: January 24, 1991 – Vic, Spain

Q2: PhD student at the University of Barcelona

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

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

Q1: March 18, 1975 – Jerusalem, Israel

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

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

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