The European Society
of Human Genetics

Young Investigators

ESHG Young Investigator Awards

The ESHG awards prizes of EUR 300.- 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 and should not be more than six years post-doctoral.

2010 Winners

Young Investigator Awards for Outstanding Science

Louise Harewood
(Lausanne)

 

The Effect of Translocation-Induced Nuclear Re-organization on Gene Expression

Silke Nuber
(Tübingen)

 

Expression of Mutant A30P alpha-Synuclein in Conditional Mouse Brain: Implications for Early Stage of Parkinson's Disease

Sabrina Carrella
(Naples)

 

The microRNA miR-204 is required for vertebrate eye development

Olli Pietiläinen
(Helsinki)

 

Inverse mapping approach implies the role of large CNVs in intellectual deficits and learning difficulties in a population cohort
Session: C10 Statistical / Genetic Epidemiology

Shushant Jain
(Amsterdam)
Phenotypic modifiers of DJ1
Session: C04 Sensory Disorders and Neurobiology

Isabelle Oberlé Award

Suleyman Gulsuner
(Ankara)

 

Targeted next generation sequencing identifies a mutation associated with cerebellar hypoplasia and mental retardation with quadrupedal locomotion

Lodewijk Sandkuijl Award

Gosia Trynka
(Groningen)

 

Multiple common genetic variants for coeliac disease influencing immune gene expression
Session: C03 Complex Diseases

ESHG Poster Awards

Emma Burkitt Wright
(Manchester)

 

SHOC2 mutations in patients with cardio-facio-cutaneous syndrome    P02.036

Alev Erogullari
(Lükeck)

 

A functional link of DYT1 and DYT6 dystonia: Repression of TOR1A (DYT1) gene expression by the transcription factor activity of THAP1 (DYT6)

Candidates for Young Investigator Awards

Johanna Andersson
London, United Kingdom

Talk: C10.6 A novel approach to analysis of raw Illumina microarray data to assess the contribution of copy number variations to obesity and gene expression
Session: C10 Statistical / Genetic Epidemiology
Date: Monday, June 14, 2010, 13.15 - 14.45 hrs

Date and city of birth
January 31, 1974 in Lindesberg, Sweden.

What is your current position?

Postdoctoral Research Associate at the Department of Genomics of Common Disease, Imperial College London, London, UK

Why did you choose a career in genetics?
I've always been fascinated by science and by life science and medicine in particular and I knew from an early age that I wanted to work in this field. My time as a PhD-student, working in cancer research, made it clear to me that genetic research was the right area for my future career in science. The field of human genetics has come a long way in recent years, but there are still much to learn, especially about the role of genes and genetic variants in complex diseases and I want to be part of generating this knowledge.

What do you really like about this research?
It is diverse, challenging and fun and I learn something new every day. I really like being involved in the whole process, from generating the data in the lab to the QC and analysis steps. 

What is your ultimate goal in life?
To be happy and for my family and friends to be happy too.
Working in research makes me happy and I want to head a successful research group that will contribute to our understanding of the role of genetics in complex diseases.

 

Elena Andreucci
Florence, Italy

Talk: C08.5 TRPV4-related skeletal dysplasias: a clinical, radiographic, and molecular study in 18 families.
Session: C08 Clinic & Genetics of Skeletal Disorders
Date: Monday, June 14, 2010, 13.15 - 14.45 hrs

Date and city of birth
December 1st, 1976 Florence, Italy

What is your current position?

PhD Student

Why did you choose a career in genetics?
I found the idea of working in such a new and rapidly expanding field very fascinating. I am really interested about the clinical aspects of genetic conditions and enjoy the challenges the work in the lab puts you in front of.

What do you really like about this research?
I like the involvement of clinical aspects next to the lab work and I find it very interesting to study a protein which seems involved in so many different physiological processes and try to understand how it's mutations can cause such different conditions. 

What is your ultimate goal in life?
It might be banal, but, just like many other people, I have more than one goal in my life: from a professional point of view I hope I can have some role in the understanding of the genetics of human diseases; from a personal point of view...happiness! The two things are definitely linked, but even if I put all the passion I have in it, I like to consider my profession only one aspect of my life.

 

Alejandro Arias-Vàsquez
Nijmegen, Netherlands

Talk: C15.1 Genome-wide association study of regional brain volume suggests involvement of known psychiatry candidate genes, identifies new candidates for psychiatric disorders and points to potential modes of their action
Session: C15 Beyond GWAS
Date: Tuesday, June 15, 2010 - 10.45 - 12.15 hrs

Giuseppina Baldassarre
Torino, Italy

Talk: C06.6 Prenatal anomalies in a cohort of 40 Noonan syndrome patients
Session: C06 Reproductive Genetics
Date: Monday, June 14, 2010, 13.15 - 14.45 hrs

Date and city of birth
July 4th, 1981 in Torino, Italy

What is your current position?

Resident in Pediatrics at the Department of Pediatrics of the University of Torino, Italy. Trainee at the Medical Genetics Division of the same Department since 2006. 

Why did you choose a career in genetics?
I always thought research and practice in clinical genetics were the right direction for my professional future. Besides the interest in the challenging diagnostic approach to the rare diseases, I find the ever evolving field of clinical genetics fascinating as bridging clinical practice and basic science research. 

What do you really like about this research?
I like the idea the results of my research could help physicians and patients in understanding the implications of a prenatal suspected diagnosis of a rare genetic disease.

What is your ultimate goal in life?
From a professional standpoint my goal is to contribute to a better understanding of the mechanisms of rare human diseases. 

 

Hanno Bolz
Cologne, Germany

Talk: PL2.2 PDZD7 is a modifier of and digenic contributor to retinal disease in Usher syndrome
Session: PL2 What's new?
Date: Saturday, June 12, 2010, 18.30 - 20.00 hrs

Date and city of birth
February 03, 1970

What is your current position?

Associate Medical Director of the Bioscientia Center for Human Genetics, Ingelheim, Germany. I am also affiliated with the Institute of Human Genetics of the University Hospital of Cologne through teaching and research activities.

Why did you choose a career in genetics?
After medical school, I thought that this field was probably the most exciting. Soon thereafter (2000), I was in the middle of a positional cloning project for Usher syndrome when the Human Genome Project data were increasingly released into the internet databases, with an enormous impact on our project and the speed of gene discovery. I decided to stay in human genetics because I felt it was in the right field at the right time.

What do you really like about this research?
Right now, the available technology offers immense opportunities for disease gene identification and - through this - allows unprecedented insight into the mechanisms of disease.

What is your ultimate goal in life?
To lead a fulfilling life, and keep it all in balance: work, friends and family.

Ernie Bongers
Nijmegen, Netherlands

Talk: C08.4 Mutations in PITX1 cause a human patellar malformation syndrome: Delineation of a recognisable lower-limb phenotype
Session: C08 Clinic & Genetics of Skeletal Disorders
Date: Monday, June 14, 2010, 13.15 - 14.45 hrs

Date and city of birth
Dec 17th, 1968, Zeeland, The Netherlands.

What is your current position?

Clinical Geneticist, at the Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

Why did you choose a career in genetics?
Working as a clinical geneticist gives me the exciting and rewarding opportunity to combine patient care with genetic research, to the benefit of patients and their families.

What do you really like about this research?
To go on a quest together with my patients and colleagues and to achieve innovative breakthroughs, which answer our questions and unite us in a common goal. I especially enjoy exploring the fascinating molecular pathways of disrupted limb and kidney development. 

What is your ultimate goal in life?
To always welcome new challenges with curiosity, creativity, passion, and pleasure.

 

Zeinab Barekati
Basel, Switzerland

Talk: C07.2 Correlation of telomere length shortening with promoter methylation profile of p16/Rb and p53/p21 pathways in breast cancer
Session: C07 Cancer Genetics
Date: Monday, June 14, 2010, 13.15 - 14.45 hrs

Date and city of birth
21 April 1980 Tehran Iran

What is your current position?

Ph.D Student in Genetics

Why did you choose a career in genetics?
Since I was in high school I loved genetics and cellular events. So I chose this filed and I contributed in projects which related to cytogenetics and molecular genetics. I found molecular genetics more interesting and I will continue in this filed with the aim of discovering some new information in genetics.

What do you really like about this research?
I like this research because I can improve my skills and it helps me to understand more about my favorite filed. By every new project I learn lot of new things. 

What is your ultimate goal in life?
My aim is to have a good research team in the future which could be useful for science and subsequently sick people could benefit from it. 

Alice Callard
Manchester, United Kingdom

Talk: C11.4 Genetic Counsellors' Views Regarding Their Role in Delivering a Pharmacogenetic Service
Session: C11/EC5A Genetic Research, Biobanking and Public Policy (joint session with EMPAG)
Date: Monday, June 14, 2010, 13.15 - 14.45 hrs

Date and city of birth
Sydney, 29th March 1981

What is your current position?

Trainee genetic counsellor

Why did you choose a career in genetics?
I have a strong interest in how our genes control the way in which we develop and how a genetic change can result in a disease phenotype. 

What do you really like about this research?
being able to discover something new that has not been found before. 

What is your ultimate goal in life?
To combine clinical work as a genetic counsellor with research into Huntington's disease and the psychosocial effect this has on individuals and families.

 

Sabrina Carrella
Naples, Italy

Talk: C04.3 The microRNA miR-204 is required for vertebrate eye development
Session: C04 Sensory Disorders and Neurobiology
Date: Sunday, June 13, 2010, 13.15 - 14.45 hrs

Date and city of birth
25/03/1985 Naples

What is your current position?

I am a second year PhD student in Molecular Medicine (SEMM: European School of Molecular Medicine)

Why did you choose a career in genetics?
Of all the biological and medical fields, genetics is the one that attracted me the most because for me understanding the function and regulation of genes and molecular pathways is a way of understanding something about the magic of the mechanisms of life.

What do you really like about this research?
Research is hard but also very stimulating and enjoyable because in this work it is possible to study, reason, find new ways and strategies, hypothesize or imagine how something works and try to demonstrate it, or discover that it is exactly the opposite, but finally the really important thing is that it is possible to identify how it works! 

What is your ultimate goal in life?
In my working life, I want to carry on my studies in genetics and I would like make a positive contribution to the identification of biological mechanisms, hoping that this could be helpful in the realization of strategies and therapies to improve the quality of life for people with genetic diseases.

Viviana Cordeddu
Rome, Italy

Talk: C14.4 Mutation in SHOC2 promotes aberrant protein N-myristoylation and underlies Noonan-like syndrome with loose anagen hair
Session: C14 Mutation mechanism
Date: Tuesday, June 15, 2010 - 10.45 - 12.15 hrs

Date and city of birth
28 June 1974, Sassari (IT)

What is your current position?

In-staff scientist

Why did you choose a career in genetics?
Since my first Genetics and Human Genetics courses I was really interesting in field of human population genetics, microevolution processes of human populations, and the possibility of using molecular approaches and tools to explore this exciting field of research.
More recently, as a post doctoral fellow and then researcher at the Istituto Superiore di Sanitá (i.e., the Italian National Health Institute) my interests have been oriented towards the understanding of the molecular mechanisms underlying human diseases, which originally also represented a major reason driving my interest in genetics.

What do you really like about this research?
Besides the identification of a novel disease gene by applying an innovative system biology approach based on protein network analysis, I think that a major impact of this work relies on the discovery of an unexpected molecular mechanism implicated in protein functional dysregulation and causing human disease. 

What is your ultimate goal in life?
To contribute to our knowledge of the pathogenetic causes of human disease. 

 

Johanna Dahlqvist
Uppsala, Sweden

Talk: C14.3 A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and an altered epidermal proteasome distribution in KLICK genodermatosis
Session: C14 Mutation mechanism
Date: Tuesday, June 15, 2010 - 10.45 - 12.15 hrs

Date and city of birth
Feb 12, 1979, Umea.

What is your current position?

PhD student, Department of Genetics and Pathology, Uppsala University, Sweden.

Why did you choose a career in genetics?
It is a vast and quickly expanding field where progress is made every day to elucidate the very basic components of all organisms.

What do you really like about this research?
It is a challenging work that leads to unexpected discoveries and constantly provokes you to think in new directions. 

What is your ultimate goal in life?
To challenge myself and to follow my instincts.

Katharina Danhauser
München, Germany

Talk: C14.6 High-throughput mutation screening in combination with cellular complementation of rare variants aid gene identification in mitochondrial disorders
Session: C14 Mutation mechanism
Date: Tuesday, June 15, 2010 - 10.45 - 12.15 hrs

Date and city of birth
28.12.1985, Mindelheim, Bavaria, Germany

What is your current position?

Medical PhD student

Why did you choose a career in genetics?
Human genetics is a subject contributing to almost every clinical disciplin. Emerging technologies in genetic analysis will enable researches in this field to substantially increase our knowledge in disease and health.

What do you really like about this research?
Our interdisciplinary team offers a highly inspirating and challenging environment, supporting personal and scientific development. 

What is your ultimate goal in life?
Be happy and love what I do

    

Hossein Darvish
Tehran, Islamic Republic of Iran

Talk: C12.1 Homozygosity Mapping of Primary Microcephaly in 112 Iranian Families: Novel Mutations and Phenotypes
Session: C12 Mental retardation
Date: Tuesday, June 15, 2010 - 10.45 - 12.15 hrs

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Ivanka Dimova
Sofia, Bulgaria

Talk: C07.3 Discovery of molecular targets for therapy by expression profiling of thyroid cancer cases
Session: C07 Cancer Genetics
Date: Monday, June 14, 2010, 13.15 - 14.45 hrs

Date and city of birth
14.12.1973, Dupnitza

What is your current position?

Assistent-doctor

Why did you choose a career in genetics?
This is the basics of medico-biological science, provide with the knowledge for the ethiology or predisposition to the diseases and evidence-based approach in drug discovery.

What do you really like about this research?
I like the new information about the molecular mechanisms of thyroid carcinoma, which is very different in its representation and therapy response. This information is a starting point for experimental studies aiming the confirmation of the importance for the discovered molecules.

What is your ultimate goal in life?
Personally - health and happyness of all people around me; Professionaly- making the genetics one of the leading medical science in therapy desicion taking, individualized approach in the treatment of patients with oncological and complex diseases, good access of genetic services for the people of Eastern Europe contries.

    

Marcel du Moulin
Muenster, Germany

Talk: C12.4 The Arg164X mutation in SAMHD1 leads to a novel variant of Aicardi-Goutières syndrome by modulating cytokine expression
Session: C12 Mental retardation
Date: Tuesday, June 15, 2010 - 10.45 - 12.15 hrs

Date and city of birth
19/02/1980, Hamburg, Germany

What is your current position?

Resident and research fellow in paediatrics at the University Children's Hospital, Department of General Paediatrics, Muenster, Germany 

Why did you choose a career in genetics?
I decided to specialize in paediatrics because I enjoy working with children and am interested in the broad and intellectually challenging spectrum of diseases in that field. Human genetics and paediatrics are intertwined disciplines. Thus, working in paediatrics led me to the study of genetics. And, in the end, getting interested in a field is influenced by the people you meet.

What do you really like about this research?
As genetic disorders play a central role in paediatrics, studying the genetic and molecular basis of disease gives me more profound insight into pathophysiological mechanisms and helps me to better understand clinical presentations and therapeutic options.

What is your ultimate goal in life?
Write a novel and run a marathon.

Karol Estrada
Rotterdam, Netherlands

Talk: PL2.3 The identification of 180 genetic loci involved in adult height variation highlights the complex genetic architecture of polygenic traits
Session: PL2 What's new?
Date: Saturday, June 12, 2010, 18.30 - 20.00 hrs

Date and city of birth
March 10th, 1979 Mexico City

What is your current position?

Position: PhD student at the Genetics Lab, Department of Internal Medicine, Erasmus University Medical Center.

Why did you choose a career in genetics?
It was something unusual for someone with a degree in computer engineering. While doing my master's degree in computer sciences I realized that my major interest was on the underlying biology rather than in the methodology per se. It was then when I decided to make a shift in my life and to dedicate all efforts to the study of human genetics. 

What do you really like about this research?
It is fascinating how biology, medicine, epidemiology and statistical methods converge into one interdisciplinary area which could not exist if any of the mentioned areas of research were missing. One of the best examples of collaborative work is our GIANT consortium where more than 290 researchers from 60 studies worldwide were organized to achieve a common goal: identifying most of the common genetic variants underlying anthropometric traits. The excitement underlying each of the moments bringing a new discovery in front of my eyes is very difficult to describe. 

What is your ultimate goal in life?
I should say I have many goals but lack an 'ultimate' one. I feel the need to constantly renew my goals. Life would be extremely boring after an ultimate goal was achieved or extremely frustrating if you never succeed in that particular 'ultimate' goal. The important point though is to do your best and maintain the motivation needed to achieve your goals. 

 

Suleyman Gulsuner
Ankara, Turkey

Talk: C12.3 Targeted next generation sequencing identifies a mutation associated with cerebellar hypoplasia and mental retardation with quadrupedal locomotion
Session: C12 Mental Retardation
Date: Tuesday, June 15, 2010, 10.45 - 12.15 hrs

Date and city of birth
9 December 1978, Isparta, Turkey

What is your current position?

PhD student in Bilkent University Department of Molecular Biology and Genetics

Why did you choose a career in genetics?
The fundamentals and developmental mechanisms of biological systems has awaken my curiosity since I was a child. As a curious high school student, reading the 'Double Helix' deeply increased my concern about biology and
Dr. Watson appeared as an idol for me. I anticipated back then
that genetics was supposed to be the potential science of the future. Furthermore, during medical school trainee I realized that, the exciting link between genotype-phenotype relationship was the key to understand underlying mechanisms of both normal development and disease mechanisms. Thus, I decided to build my future carrier in human genetics.

What do you really like about this research?
Directly observing genotype-phenotype relationships in rare diseases give us invaluable information to solve the complex puzzle of human biology. Many rare human genetic diseases are still to be discovered. Owing to the the fact that, revolutionary sequencing technologies opens a new era in terms of disease gene identification, to get an opportunity of using them has been the most exciting part for me.

What is your ultimate goal in life?
To live a happy life without loosing my curiosity and motivation.

Louise Harewood
Lausanne, Switzerland

Talk: PL2.1 The Effect of Translocation-Induced Nuclear Re-organization on Gene Expression
Session: PL2 What's new?
Date: Saturday, June 12, 2010, 18.30 - 20.00 hrs

Date and city of birth
February 1878 in Warrington, UK

What is your current position?

Postdoctoral Fellow at the Center for Integrative Genomics, Lausanne, Switzerland

Why did you choose a career in genetics?
I fell in love with Human genetics whilst at university - at the first sight of a G-banded karyotpe! My love of chromosomes has never waned since then. 

What do you really like about this research?
The potential to understand the basis of human diseases and biological processes and the puzzles contained therein. 

What is your ultimate goal in life?
To feel I've done something worthwhile and that my life has had an impact somewhere. To be content.

 

Robin Hayeems
Toronto, Canada

Talk: C11.2 Reporting genetic research results: A quasi-experimental approach to understanding researchers' judgments
Session: C11/EC5A Genetic Research, Biobanking and Public Policy (joint session with EMPAG)
Date: Monday, June 14, 2010, 13.15 - 14.45 hrs

Date and city of birth
Mar 20, 1974, Halifax, Nova Scotia

What is your current position?

Postdoctoral Fellow, University of Toronto

Why did you choose a career in genetics?
It is a field rich with value-laden technical, clinical, and health system level challenges.

What do you really like about this research?
It uses a creative and rigourous methodology to better understand a question that is fundamental to the research enterprise.

What is your ultimate goal in life?
To achieve a professional position that enables me to pursue high quality policy-relevant research.

Alexander Hoischen
Nijmegen, Netherlands

Talk: PL2.4 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
Session: PL2 What's new?
Date: Saturday, June 12, 2010, 18.30 - 20.00 hrs

Date and city of birth
11th July 1977, Hamm, Germany

What is your current position?

Research postdoc in the Genomic Disorders and Next-Generation Sequencing groups, Department of Human Genetics, Radboud University Medical Centre Nijmegen, The Netherlands

Why did you choose a career in genetics?
I think it's fascinating to start understanding little parts of the "book of life". There's so much unknown that needs to be discovered. A career in genetics offers great freedom and the chance to discover something new. 

What do you really like about this research?
The combination of basic research with high clinical impact is of course very attractive. To know that you do work for patients, e.g. in deciphering the genetic causes of a disease, gives you certainly high motivation. On top, the fast evolving technologies offer possibilities to answer questions researches haven't been able to answer for years.

What is your ultimate goal in life?
Enjoying every single day of it!

 

Daniela Iaconis
Naples, Italy

Talk: C09.2 Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated to upregulation of the mTOR pathway
Session: C09 Mouse Genetics and Therapy
Date: Monday, June 14, 2010, 13.15 - 14.45 hrs

Date and city of birth
28 May 1983 Naples, Italy

What is your current position?

PhD student of the European School of Molecular Medicine (SEMM) at Telethon Institute of Genetics and Medicine (TIGEM) in Naples. 

Why did you choose a career in genetics?
Since I was young I dreamed to be a researcher and in particular I desired to work in a project with a medical background. I found this field extremely exciting and I thought that I could contribute to discover gene diseases and new therapeutic approaches to improve people quality of life.

What do you really like about this research?
This work gives me the opportunity to explore the basic mechanisms of life. It is extremely fascinating discover how complex and finely regulated is human life. The understanding of its mechanisms is fundamental to seek the way how to manipulate them and finally to implement new therapeutic approaches.

What is your ultimate goal in life?
Happiness

Zafar Iqbal
Nijmegen, Netherlands

Talk: C05.2 Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) causes Frank-Ter Haar Syndrome
Session: C05 Skeletal Disorders
Date: Sunday, June 13, 2010, 13.15 - 14.45 hrs

Date and city of birth
08-12-1981, Faisalabad Pakistan.

What is your current position?

PhD Student at Department of Human Genetics, Radboud university Nijmegen Medical Centre, Nijmegen, The Netherlands. 

Why did you choose a career in genetics?
I did my bachelors in Animal sciences, during my bachelor studies Animal Breeding and Genetics was my major subject and ofcourse favourite for me. I have been studying genetics for four years and since my bachelors it has been a fascinating and challenging subject for me. what was actually the fascinating for me when i was new in this field! you can explore and manipulate the molecular basis of the diseases and learn more about the mystery of life.

What do you really like about this research?
Normally when one start conducting a research on a specific aspect, is not so enthiusiastic for me; like only some functional work on a specific protein. In this type of research we are connected with clinic and have a chance to investigate the genetic basis of any disorder and further unraveling the different pathways which are responsible to cause a disease/syndrome, by various ways e;g by animal modeling, by the dissection of functional pathways etc. After investigating the key players which are involved in disease causation we can move towards the treatment/therapy. so in this way you can get back to the patients with a better solution. I really like this hopeful research.

What is your ultimate goal in life?
To serve Humanity 

 

Susana Iraola
Barcelona, Spain

Talk: C01.3 Genomewide DNA methylation analysis in neurodegenerative disorders
Session: C01 Next Generation Sequencing
Date: Sunday, June 13, 2010, 13.15 - 14.45 hrs

Date and city of birth
Bilbao, Bizkaia, 02/11/1981

What is your current position?

Third year PhD student.

Why did you choose a career in genetics?
Genetics was the most interesting subject to me in the university, and I just wanted to learn more about it. 

What do you really like about this research?
From my point of view human genetics represents a clear link between the clinical world and the basic research, a multidisciplinary field which could hopefully improve the knowledge of different human diseases through unraveling genetic factors contributing to the susceptibility of complex disorders. 

What is your ultimate goal in life?
Keep always a reason to smile

A Isaacs
Rotterdam, Netherlands

Talk: C03.4 Genetic variation in 22 loci influences QRS complex duration
Session: C03 Complex Diseases
Date: Sunday, June 13, 2010, 13.15 - 14.45 hrs

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Shushant Jain
Amsterdam, Netherlands

Talk: C04.4 Phenotypic modifiers of DJ1
Session: C04 Sensory Disorders and Neurobiology
Date: Sunday, June 13, 2010, 13.15 - 14.45 hrs

Date and city of birth
05/10/1980 Lancaster

What is your current position?

Post Doctoral Fellow - Medical Genomics

Why did you choose a career in genetics?
During my undergraduate degree i undertook an internship which involved elucidating the risk factors for Alzheimer's Disease. During this period not only did i learn alot but also realised how much there was still to discover. With the great advancements in genetics, a career in this field would be both both exciting and challenging. 

What do you really like about this research?
The research we conduct is at the cutting edge using robotics and automated microscopes, capable of producing huge amounts of data which needs to analyzed. I hope overcoming the challenges of establishing and organizing this will make a great impact on science and provide essential tools for other researchers. 

What is your ultimate goal in life?
To enjoy whatever I do

Maya Kasowski
New Haven, United States

Talk: C01.2 Variation in transcription factor binding among humans
Session: C01 Next Generation Sequencing
Date: Sunday, June 13, 2010, 13.15 - 14.45 hrs

Date and city of birth
8/9/1976 and New York City

What is your current position?

I am a fifth year MD-PhD student at Yale University.

Why did you choose a career in genetics?
I am a medical student and my primary interest is why people get sick. I think the field of genetics will increasingly be able to provide clues and, in some cases, answers to this essential question. This is a fascinating time for genetics. In the near future we will be able to affordably sequence patient genomes and learn a great deal more about susceptibility and genetic changes in disease.

What do you really like about this research?
I think human genomics is fascinating. It is challenging and abstract, but also very concrete in that it pertains to human health. The study of gene regulation is of special interest as it promises to tell us much more about human diversity and perhaps our evolution.

What is your ultimate goal in life?
My goal is to become a physician scientist, and combine my passion for caring for patients with my interest in genetics. I think this will be a very exciting career, as technologies are making it possible to investigate fundamental questions about human health. My ultimate goal in life is to contribute to discoveries of human biology that may have an application in the prevention or treatment of disease.

 

Eva Klopocki
Berlin, Germany

Talk: C05.3 PTHLH deletion and point mutations are associated with Brachydactyly type E (BDE)
Session: C05 Skeletal Disorders
Date: Sunday, June 13, 2010, 13.15 - 14.45 hrs

Date and city of birth
04.05.1975 in Wuppertal, Germany

What is your current position?

Postdoctoral fellow and head of the array CGH group at the Insitute for Medical Genetics, Charité Universitätsmedizin Berlin, Germany

Why did you choose a career in genetics?
The mechanisms underlying human development and human disease fascinated me already as a student. Currently I am investigating the impact of genetic changes in long-range regulatory elements and the effects on embryonic development and the relevance for congenital malformations. Genetics offers the possibility to work at this exciting interface between basic and clinical research.

What do you really like about this research?
The field of (human) genetics is currently the most fascinating field in science since our knowledge is increasing exponentially and there is still so much more to discover. I appretiate the interdisciplinary work with other scientists and clinician as well as the itneraction with patients and their families.

What is your ultimate goal in life?
Stay happy and contented with all that I do.

Zoltan Kutalik
Lausanne, Switzerland

Talk: C03.6 Genome-wide association scan reveals major susceptibility locus in IL28B for both chronic Hepatitis C and for treatment failure
Session: C03 Complex Diseases
Date: Sunday, June 13, 2010, 13.15 - 14.45 hrs

Date and city of birth
30 December 1978, Budapest, Hungary

What is your current position?

Post doc at the Department of Medical Genetics of the University of Lausanne, Switzerland.

Why did you choose a career in genetics?
I found all branches of biology quite boring at high school, except for genetics. However, maths was my utmost favourite. It was not until my exchange year at the university when I met the first real application of mathematics...in biology. This made me realise that rather than pursuing a career in pure mathematics, I want to find an exciting field where maths is of quintessential use. That is how I stumbled across genetics.

What do you really like about this research?
This field is extremely interdisciplinary where so many skills are needed. It is like putting together a gigantic puzzle, where solving a part of it just triggers new questions. I like the freedom of research and the creativity it requires.

What is your ultimate goal in life?
Dream and search forever...

 

Bart Loeys
Gent, Belgium

Talk: C16.1 The revised Ghent nosology for the Marfan syndrome (MFS)
Session: C16 Growth and vascular disorders
Date: Tuesday, June 15, 2010 - 10.45 - 12.15 hrs

Date and city of birth
May 15th, 1970

What is your current position?

Clinical geneticist and clinical investigator in the Center for Medical Genetics, Ghent University Hospital in Belgium

Why did you choose a career in genetics?
During high school I was intrigued by Mendel's laws and this interest was increased during my medical training and pediatric residency. Genetics is a fascinating field with new discoveries every day.

What do you really like about this research?
Every patient that we see in clinic is a real challenge. Trying to understand the molecular basis, gaining insight into the pathogenesis and finally finding roads into treatment of so many genetic conditions is a real joy every day. I focus on the genetic basis, pathogenesis and treatment of aortic disease.

What is your ultimate goal in life?
Find a good balance between a challenging research career and a warm happy family life.

Mara Marongiu
Monserrato (CA), Italy

Talk: C09.5 The forkhead transcription factor FOXL2 is sumoylated in both human and mouse: Sumoylation affects its stability, localization, and activity
Session: C09 Mouse Genetics and Therapy
Date: Monday, June 14, 2010, 13.15 - 14.45 hrs

Date and city of birth
December 14th, 1974, Lanusei (OG),Italy

What is your current position?

Post-Doc in Molecular Biology

Why did you choose a career in genetics?
Since I was a child, I wanted to be a scientist. My first idea was to modify animals so that they never would became adults-I loved and I love puppies! Of course now my projects are changed! I have always been fascinated by science, by the infinitely small and by the infinitely big. I finally decided to study the secrets hidden in our cells and in our genes. Genes are so intriguing, and the curiosity always drives me to try to understand and to study their function.

What do you really like about this research?
I like plenty of things about research. First of all I like the idea that our work should be the starting point to help sick people to have a better quality life. I also like to satisfy my curiosity and to discover all the hidden things that make 'life' possible. This is not only a work, it is a passion. I like the fact that meeting a scientist is often the same as meet an old friend because we have so many things in common, all starting from wonder. Science is not only science, it is a way of life.

What is your ultimate goal in life?
My ultimate goal is to discover and share with other people a lot of new interesting things. Furthermore I would like to realize myself as a woman, trying to resist to the great temptation to spend all of my life for Science!

 

Noriko Miyake
Tokyo, Japan

Talk: C09.4 Global gene transfer in the CNS and phenotypic correction of MLD model mice by systemic neonatal injection of serotype 9 AAV vector
Session: C09 Mouse Genetics and Therapy
Date: Monday, June 14, 2010, 13.15 - 14.45 hrs

Date and city of birth
1969/06/27 Tokyo

What is your current position?

Graduate student

Why did you choose a career in genetics?
Because I am interested in genetic disease and gene therapy.

What do you really like about this research?
This research is pre-clinical research of gene therapy. To treat the genetic disease which we can not cure by existing therapy is very important and attractive.

What is your ultimate goal in life?
Establishment of eutherapeutic gene therapy for genetic disease.

Oscar Molina
Cerdanyola del Vallès, Spain

Talk: C06.4 Frequencies of 15q11-q13, 7q11.23 and 22q11.2 deletions and duplications in spermatozoa from Prader-Willi syndrome fathers.
Session: C06 Reproductive Genetics
Date: Monday, June 14, 2010, 13.15 - 14.45 hrs

Date and city of birth
16th of March 1983, Barcelona

What is your current position?

PhD Student

Why did you choose a career in genetics?
As a student of Biology I was very interested in all the subjects concerning Genetics, especially in the field of Human Genetics. I was fascinated by how the genetic information is codified and expressed as well as how it is transferred to the offspring. Since I was trained in a Cytogenetics laboratory, performing different kinds of chromosomal analyses, I became deeply interested in the chromosome behaviour and the mechanisms involved in the generation of chromosomal reorganizations that lead, in some cases, to human diseases. This experience encouraged me to start my research formation in the field of Cytogenetics directed by my university lecturers who specialized in this area. 

What do you really like about this research?
The research that I am doing allows me to develop my skills in several aspects of my training as a scientist. The opportunity to work with people who are specialized in different areas is an enriching experience allowing me to learn different topics beyond my research and develop as an investigator.
The last years have generated a great advance in the knowledge of the structural variation in the human genome, especially in the regions involved in human diseases. But, as usually happens in science, several questions remain to be answered. It is the process of trying to solve these questions that keeps me interested in my research and the main reason that motivates me to continue doing research in the future.

What is your ultimate goal in life?
As my experience as a PhD student has been very rewarding so far, I would like to keep on doing research mainly in the Human Genetics area and follow my career as a researcher once I write my thesis. I am very interested in a wide range of topics, from pre-implantational genetic studies to cancer research. My aim in the future is to continue learning and try to settle as a researcher with a supportive team.

 

Silke Nuber
Tuebingen, Germany

Talk: C04.6 Olfactory Expression of Mutant A30P alpha-Synuclein in Conditional Mouse Brain: Implications for Early Stage of Parkinson's Disease
Session: C04 Sensory Disorders and Neurobiology
Date: Sunday, June 13, 2010, 13.15 - 14.45 hrs

Date and city of birth
04.11.1977, Krumbach (Bavaria), Germany

What is your current position?

Work Group Leader of alpha-Synclein transgenic animal models of PD

Why did you choose a career in genetics?
I chose this career as it provides the opportunity to work in many different settings, ranging from gene studies to read-out in living animals and to work with a wide variety of scientists.

What do you really like about this research?
The constant challenge, learning and growing in the field of science and to meet other scientists, sharing this passion

What is your ultimate goal in life?
To discover beauty in the detail

Kimmo Palin
Hinxton, Cambridge, United Kingdom

Talk: C10.4 Modelling haplotype structure in isolate populations for population sequencing
Session: C10 Statistical / Genetic Epidemiology
Date: Monday, June 14, 2010, 13.15 - 14.45 hrs

Date and city of birth
14.4.1978 Pori

What is your current position?

Postdoctoral Fellow in The Wellcome Trust Sanger Institute

Why did you choose a career in genetics?
My training is in Computer Science/Computational Biology and genetics provides nice, clean, computational problems.

What do you really like about this research?
Finding something new by looking at the data in novel ways.

What is your ultimate goal in life?
Live long and prosper.

  

Orianne Philippe
Paris, France

Talk: C12.2 Combination of linkage mapping and microarray-expression analysis identifies NF-κB signalling defect as a novel cause for autosomal recessive mental retardation
Session: C12 Mental retardation
Date: Tuesday, June 15, 2010 - 10.45 - 12.15 hrs

Date and city of birth
22 april 2010, Bourg la Reine (92) FRANCE

What is your current position?

PhD student

Olli Pietiläinen
Helsinki, Finland

Talk: C10.5 Inverse mapping approach implies the role of large CNVs in intellectual deficits and learning difficulties in a population cohort
Session: C10 Statistical / Genetic Epidemiology
Date: Monday, June 14, 2010, 13.15 - 14.45 hrs

Date and city of birth
January 10th 1982, Helsinki, Finland

What is your current position?

I'm a Ph.D. student at Prof. Leena Peltonen's group in the Institute for Molecular Medicine Finland FIMM, Helsinki, Finland

Why did you choose a career in genetics?
I guess I have always been interested in science and especially fascinated by biology. Already as child I thought I will be a researcher when I grow up. After graduating from high school I started studying chemistry at the University of Helsinki. In 2004 I joined Leena's group and I was instantly swept away by human genetics.

What do you really like about this research?
It's difficult to point out any one thing I like in research. I like my work altogether. One of the best things is the feeling of going through some new results waiting what you will find. It's like unwrapping a birthday present. 

What is your ultimate goal in life?
To live a happy and fulfilling life.

 

Ramin Radpour
Basel, Switzerland

Talk: C07.5 Methylation Profiles of 22 Candidate Genes in Breast Cancer Using High-Throughput MALDI-TOF Mass Array
Session: C07 Cancer Genetics
Date: Monday, June 14, 2010, 13.15 - 14.45 hrs

Date and city of birth
Dec 09, 1977 - Tehran

What is your current position?

Ph.D. student in Human Genetics

Why did you choose a career in genetics?
I chose this career because I really enjoy the fast pace changes of science in genetics and I like to help people who were suffering from unknown or untreatable disorders. I wanted a career that would allow me to be in healthcare and researcher both. As a graduate student in human Genetics, I became more interested in the field through taking part in the medical genetics programs. During a laboratory works, I fell in love with genes and molecular methods!

What do you really like about this research?
I like helping families to understand their genetic condition or predisposition, trying to find out the biological bacground of unknown genetic disease, finding a diagnostic methods or convenient treatments and teaching genetics to the other students. I also enjoy helping other healthcare providers understand how genetics fits into all areas of medicine.

What is your ultimate goal in life?
I am eager to see the new human genetic findings come into the field, make great new discoveries and question all of our current dogma.

Serena Sanna
Monserrato, Italy

Talk: C03.5 A genome-wide association scan in Sardinians reveals a novel gene associated with multiple sclerosis
Session: C03 Complex Diseases
Date: Sunday, June 13, 2010, 13.15 - 14.45 hrs

Date and city of birth
November 15, 1980, in San Gavino M.,Sardinia, Italy

What is your current position?

I am currently a Post doctoral collaborator at the Institute of Neurogenetic and Neuropharmacology of the Italian National Council of Research (CNR), in Monserrato, Italy

Why did you choose a career in genetics?
After I graduated in Math, I started to work in a molecular genetic lab, and I was definitely feeling a little' dumb'... I could not remember the biology I studied during the high school... what is a 'chromosome'? 'nucleotide'??? 'Mitocondrial DNA'?? Then I started to go deeper and deeper in the field, knowing about statistical genetics. We can use all those infinite (but still numerable) formulas from statistics, analysis, geometry and such, to interpret DNA complexity. That's a perfect demonstration that Science is one, big, unlimited world, and I want to discover it!

What do you really like about this research?
I think what it is attracting and motivating me is that I am studying my population: the Sardinians. In particular for this project, I was very keen to study a disease of such strong impact on life and so common in this "small" island. I have also enjoyed training other people and transmit my knowledge (even if it is small), while learning from them at the same time.

What is your ultimate goal in life?
I wish to stay curious and enjoy research, and to have the ability to transmit my passion to colleagues, students and collaborators. I wish to make a difference, where I can, at work and in the everyday life, making the people around me happy.

 

Gosia Trynka
Groningen, Netherlands

Talk: C03.3 Multiple common genetic variants for coeliac disease influencing immune gene expression
Session: C03 Complex Diseases
Date: Sunday, June 13, 2010, 13.15 - 14.45 hrs

Date and city of birth
13 July 1983, Cracow, Poland

What is your current position?

PhD student in the Genetics Department, UMCG, Groningen, the Netherlands

Why did you choose a career in genetics?
My adventure with genetics started when I visited Prof. Cisca Wijmenga's lab in Utrecht, the Netherlands, for a 3-month summer internship as an undergraduate biotechnology student from Poland; this was extended to a 1-year internship, which resulted in me taking up a PhD position under her when she moved to Groningen ... in other words, from the first moment I found genetics to be a very exciting and interesting field ... and I'm still enthusiastic after nearly 4 years so I think I'd better continue in genetics.

What do you really like about this research?
The dynamic character of the research in genetics, the pace at which genetics, especially population genetics, is currently "developing", and that every day I learn something new.

What is your ultimate goal in life?
Travel, good food, being enthusiastic about my work, never getting grumpy, stay smiling and being happy!

Elif Uz
Ankara, Turkey

Talk: C14.5 Another gene for autosomal recessive ALX-related frontonasal dysplasias: Disruption in ALX1 (CART1) causes anophthalmia and severe facial clefting
Session: C14 Mutation mechanism
Date: Tuesday, June 15, 2010 - 10.45 - 12.15 hrs

Date and city of birth
08 April 1975, Ankara

What is your current position?

I am a post-doctoral fellow at the Department of Medical Genetics, Hacettepe University.

Why did you choose a career in genetics?
For me, the landmark was during a biology lesson in high school. The topic of the lesson was genetic and the teacher was mentioning about the disorders caused by ploidy. I decided at that time to be a scientist in order to find the causes and treatment for the disorders caused by genetic defects. Of course the shape of my ideas changed over time but the main point of origin still remains.

What do you really like about this research?
I really like the feeling of finding (or discovering) new things that nobody knows on the World yet. Moreover the feeling of being a part of the solution on the way of diagnosis or treatment triggers me to spend more effort.

What is your ultimate goal in life?
Honestly, my ultimate goal in life is to see every part of the world.

 

Evelyne Vanneste
Leuven, Belgium

Talk: C06.5 Genome-wide single cell array analysis for preimplantation genetic diagnosis of a complex chromosomal rearrangement carrier
Session: C06 Reproductive Genetics
Date: Monday, June 14, 2010, 13.15 - 14.45 hrs

Date and city of birth
18/09/1983, Kortrijk (Belgium)

What is your current position?

I'm a last year PhD student in the group of Joris Vermeesch at the Center of Human Genetics at the university of Leuven (Belgium)

Why did you choose a career in genetics?
I'm working in the field of pre-implantation genetic diagnosis. Preimplantation genetic diagnosis was developed out of a need to provide an alternative to prenatal diagnosis for couples at risk of transmitting a genetic disease to their children. This way, genetics can really help to fulfil the childwish of couples carrying a genetic abnormality.

What do you really like about this research?
The fact that our research is closely related to the clinic and that a good result, meaning the birth of a healthy child for couples carrying a genetic abnormality, is each time amazing and of big impact for our patients.

What is your ultimate goal in life?
Optimise the single cell analyis technique as much as possible to be able to help more couples than we are currently doing.

Marjolein Willemsen
Nijmegen, Netherlands

Talk: C02.1 Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
Session: C02 Clinical Cytogenetics
Date: Sunday, June 13, 2010, 13.15 - 14.45 hrs

Date and city of birth
February 28, 1981, Nijmegen, The Netherlands

What is your current position?

Currently I am working as a PhD student on the project 'Diagnostics and diagnostic related research in intellectual disability of unknown etiology', at the department of Human genetics in Nijmegen, The Netherlands

Why did you choose a career in genetics?
First of all, I like the opportunity to combine and link genetic research with the care for patients and their families. I also enjoy the collaboration with several different disciplines both in the laboratory and in the clinics. Furthermore it is great to be part of the fast moving field of genetics. 

What do you really like about this research?
This research gives me the opportunity to combine more fundamental research with clinical research and patient contact. The genetics of intellectual disability and the mechanisms involved in brain (dys)function are intriguing. I also very much enjoy the contact with intellectual disabled people and their families. 

What is your ultimate goal in life?
To live a happy, meaningful and successful life and make the most of the opportunities that I get.

 

Jörg Wischhusen
Würzburg, Germany

Talk: C07.4 A new approach for ovarian cancer screening - characterization of miRNA profiles in peripheral blood
Session: C07 Cancer Genetics
Date: Monday, June 14, 2010, 13.15 - 14.45 hrs

Date and city of birth
December 25, 1971 in Kandel

What is your current position?

junior research group leader "tumour progression and immune escape" at the "Interdisciplinary Centre for Clinical Research" at the University of Wuerzburg School of Medicine

Why did you choose a career in genetics?
Strictly speaking, I did not choose a career in genetics but rather in oncology/tumour immunology. However, considering that cancer is a genetic disease which has to be treated according to the genetic alterations present in tumour cells, genetics is an essential part of any individualized cancer therapy - and thus an important starting point for our research.

What do you really like about this research?
On the one hand, genetic findings are mostly unambiguous which helps to generate clean data. On the other hand, I am interested in translational research which requires the correlation of clinical findings with clear, reproducible and individually specific disease paramters - and here genetics traits may provide the missing links.

What is your ultimate goal in life?
Happiness, of course... On a professional level I wish to contribute to a better understanding of the obstacles which are still in the way of a successful cancer imunotherapy - and I hope that a targeting of tumour immune evasion strategies will finally lead to a break-through in immune-based cancer treatment.