Annemieke Aartsma-Rus

Date and city of birth
September 12, 1977, Leiden, the Netherlands

What is your current position?
Assistant Professor at the Department of Human Genetics (Leiden University Medical Center, Leiden, the Netherlands). Leader of the group working on antisense-mediated exon skipping for Duchenne muscular dystrophy

Why did you choose a career in genetics?
I became interested in DNA and genetics during high school biology lessons and this interest increased during my study. Thus, I elected to do my final internship at the Human Genetics Department and was subsequently offered a position as a PhD student, postdoc and assistant professor.

What do you really like about this research?
I helped setting up our therapic approach as a PhD student and have seen it move from tests in cultured patient-derived cells to animal models and finally to patients. It is very rewarding to see how basic science work you are involved in is translated into a clincial application.

What is your ultimate goal in life?
I aim to pursue my scientific career in Genetics and hope that my efforts will help to bring about an applicable therapy for Duchenne patients, thereby improving their quality of life. In day-to-day life I try to help those around me whenever I can (friends, family and colleagues).

Mariangela Amenduni

Date and city of birth
09-07-1983 Terlizzi (BA) Italy 

What is your current position?
I’m a first year PhD student at the Medical Genetics Unit, Molecular Biology Department, University of Siena, Italy.  

Why did you choose a career in genetics?
I’ve always been interested in DNA and proteins. I decided to do my PhD in genetics because I think that a better knowledge of the genetic basis of diseases will lead to a better understanding of how these diseases develop and progress; even though searching for disease genes, sometimes, can be a needle in a haystack. The hope is that this understanding will lead to the development of new medicines that can act on the cause of the disease, to cure, treat or prevent it. 

What do you really like about this research?
I enjoy laboratory work because every day you’ve to fight with many troubles and be so smart to manage them. This is a good way to keep your mind always active and to never get bored! I’m really excited about the talk I’ll held at the meeting, the first one for me. I think it’s a great satisfaction to let other scientists know my work. 

What is your ultimate goal in life?
My idol has always been Rita Levi Montalcini. My hope is to become at least a good scientist, to lead my own lab, and why not to be candidate for the Nobel Prize! (We need to be optimistic in our work) 

Beatriz Aranda Orgilles

Date and city of birth
07.11.1976, Zaragoza, Spain 

What is your current position?
Currently, I'm in a transition period between finishing up my work in Berlin and moving to another place. I would like to go to New York and get new experiences in a good lab as a PostDoc. But, I'm also looking for chances to go back to Spain.

Why did you choose a career in genetics?
It´s hard to describe. It was always more a "feeling thing" than a decision. I always enjoyed very much topics related to genetics and felt very good working on them.

What do you really like about this research?
To study a protein complex was always very interesting because there were many new and surprising things to find out. To see MID1 moving at the microtubules and see with my own eyes its liveliness was very fascinating, as well as to be able to modify this movement. 

What is your ultimate goal in life?
As for many other people, my goal in life is happiness. I want to enjoy my life, be happy every morning when I go to the lab to investigate something helpful for others, that gives me answers and makes me grow. And the most important, I want to share all the good things with my family and friends. 

Anwar Baban

Date and city of birth
I was born on 10th January 1979 at Anbar Province, 110Km to the West of Baghdad (Iraq)

What is your current position?
After graduating from Medical School at Baghdad University (Iraq) in 2002, I got my Postgraduate Degree "Medical Genetics Speciality" in 2007 at Genoa University-Italy. Currently, I have started my First year PhD. I am in charge of Genetic Counselling and Research Activities at Cardiology and Molecular Genetics Units – Gaslini Children Hospital – Genoa- Italy  

Why did you choose a career in genetics?
I knew I wanted to be a geneticist since I was a child. I believe to know what does it mean to be a lonely soul in this life since I’m a familiar of a rare disease patient. Families with rare diseases are lonely at all levels: this is for difficulties in diagnosing and curing them or even worse for misdiagnosis and social stigma especially in third world countries. I chose genetics since I determined to help those patients by all means through the right management at all possible levels. 

What do you really like about this research?
When I started my training at Gaslini Children Hospital in 2003, it was the beginning of the Unique Referral Centre in all Italy for Poland Syndrome. I’ve great enthusiasm for this topic since I am in love with orphan diseases. I call it Orphan disease, since there are few or none systematic research based study in this subject. This makes me highly interested in searching its Genetic Basis. In my opinion, Poland Syndrome is a whole world to discover! 

What is your ultimate goal in life?
Do final goals exist? I believe there is no staying aside without being left behind! However, the thing that I’m sure I want to reach is to make a difference in the world I’m living in. I hope to be able to answer questions and make positive differences in the lives of affected, carriers, or care givers of rare diseases. Last but not the least (it is rather a dream) have a peaceful and democratic homeland to live in! 

Ortal Barel

Date and city of birth
June 6, 1977, Beer-sheva, Israel

What is your current position?
I am a PhD student in Dr. Birk’s human genetics research lab at Ben-Gurion University, Israel. I am searching for genes involved in severe hereditary neuromuscular syndromes.

Why did you choose a career in genetics?
Since I remember myself, I was interested in biology. The specific interest in human genetics arose during my B.Sc. studies. For my graduate studies I specifically looked for a research lab studying human hereditary diseases. This is a fascinating field as it combines scientific questions of great interest unraveling the mechanism of human diseases, with the generation of practical diagnostic tools enabling direct immediate clinical implementation of the findings.

What do you really like about this research?
I like the excitement and the ups and downs of a research project (certainly the ups), while knowing that the results of my work will be of crucial importance to many families – giving them the tools for carrier detection and prenatal diagnosis of a very severe disease.
During my PhD I investigated two severe neuromuscular syndromes in separate families, and defined the disease causing genes in both diseases.

What is your ultimate goal in life?
During my PhD studies I gave birth to my dearest two daughters. My ultimate goal in life is to successfully integrate between having a happy warm family and an interesting and challenging research career. 

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Sabrina Bimonte

Date and city of birth
2/06/1977 Naples (Italy)

What is your current position?
I'm a phD student in Molecular Medicine (SEMM)

Why did you choose a career in genetics?
Because it is very interesting

What do you really like about this research?
Ofd1 conditional mouse model is a powerful tool to understand the role of Ofd1 gene in limb development and skeletal patterning

What is your ultimate goal in life?
I will submit the paper on this research project and I will get marred on 26th June

Beatrice Bodega

Date and city of birth
Lecco (50km from Milan), Italy 11.02.1980 

What is your current position?
Second year Post doctoral fellow at University of Milan, Dept. of Biology and Genetics for Medical Sciences 

Why did you choose a career in genetics?
I think that genetics is at the basis of molecular medicine development.  

What do you really like about this research?
Creativity, perseverance in discovering, dynamic evolution of genetic knowledge and nothing taken for granted.

What is your ultimate goal in life?
The deep comprehension of human nature and a long life to enjoy it.

Randy Chandler

Date and city of birth
June 9, 1966 Camden, New Jersey 

What is your current position?
Research Scientist at the Human Genome Research Institute National Institutes of Health (NIH) where I research Methylmalonic Acidemia (MMA). I first became interested in MMA while conducting my master’s research at the University of Pennsylvania and came to the NIH to continue this research. 

Why did you choose a career in genetics?
I began my career working as environmental scientist, but my education as a biologist led me back to my biological roots. I was particularly interested in genetics because, with the sequencing of the human genome, I felt the field of genetics holds great promise for understanding and treating human diseases. 

What do you really like about this research?
Having the opportunity to meet some of the families dealing with MMA has allowed me to understand how devastating this disease can be both to the patients and their families. My interest in helping the families afflicted with MMA has been a motivating force in my work. 

What is your ultimate goal in life?
My ultimate and most rewarding career goal would be discovering a new therapy to improve the quality of life for MMA patients. I would like to find an institution that would allow me to conduct my PhD research in MMA. Outside of my career, my ultimate goal in life is to live life without regrets and to be happy and share that happiness with family and friends. 

Julie Desir

Date and city of birth
January 7, 1975, Brussels, Belgium 

What is your current position?
I am PhD student in the Laboratory of Medical Genetics, Hôpital Erasme, Free University of Brussels, Belgium 

Why did you choose a career in genetics?
Genetics always interested me. At 12 years, I had an exciting introduction to Mendelian transmission at school, leading me to cross my Zebra Finch birds to see variations in offspring colors from plain grey to completely white and to draw detailed genealogic tree of my family. To concretize this passion, I chose to do Medical studies, specialization in Pediatrics and then a PhD in Molecular Genetics.  

What do you really like about this research?
This research is exciting because we start from an orphan disease and everything has to be discovered. Nothing is known about the mechanisms of the disease and its relations with the related and well-studied Marfan syndrome. 

What is your ultimate goal in life?
To live with smile, be proud of what I am doing, learn many things and raise my three children happy, healthy and successful.

Alexandre Fort

Date and city of birth
I was born on a sunny day on the 5th of June 1979 in Geneva, Switzerland.

What is your current position?
I am a third year PhD student in the Department of Medicine Genetic and Development at the University of Geneva

Why did you choose a career in genetics?
When I started my university degree, I thought that every biological question that one can ask could be answered by genetic studies… I recently understood that this is not the case…

What do you really like about this research?
I love the idea to be the first digging a virgin field with the potential to unveil new areas of investigation in the domain of haemostasis gene regulation.

What is your ultimate goal in life?
After setting up a home and starting a family… becoming the ESHG chairman and introducing an old friend for the Award Lecture! On that day, I would certainly feel that I had achieved my goals in the field of human genetics!

Michella Ghassibe

Date and city of birth
1/1/1979 , Hadath-Lebanon

What is your current position?
A post doctoral scientific collaborator in the laboratory Human genetics 

Why did you choose a career in genetics?
I became interested in molecular biology and genetics during high school studies. Thus, I chose to do my BA in Biology and moved to Brussels for a master degree in genetics in the laboratory of Human Genetics. There, I was subsequently offered a position as a PhD student and scientific collaborator. 

What do you really like about this research?
During my research, I learned so many fascinating techniques such as SNP chips and microarrays, cellular cloning, animal studies. I was fortunate to enjoy collaborations with the major European and American cleft centers, which revealed highly educational as it helped me to familiarize myself with the many challenges of science. 

4. What is your ultimate goal in life?
I am seeking to pursue a career in teaching and research in genetics and molecular biology. I ardently hope to serve Lebanon one day by putting my scientific knowledge and skills for the benefit of students of science. My ultimate aim though, is to manage between science, my career and my personal life. 

Philipp Greif

Date and city of birth
15.04.1977 Munich / Germany

What is your current position?
I am currently working as postdoctoral fellow funded by the German Jose Carreras Leukemia Foundation

Why did you choose a career in genetics?
During medical school I did a research project on chromatin remodelling in drosophila and also in human prostate cancer for my MD thesis. This work was done both in the department of molecular biology at the University of Munich and in the department of pathology at the Queens University Belfast. The experience of these very different research environments made me realize that only very few investigators are able to bridge basic and clinical research. That is why I took the opportunity to work at the interface of biological and medical science.

What do you really like about this research?
I enjoy to do project driven work rather than pure clinical routine. Although laboratory work is similarly demanding as compared to a clinician's job, there is a lot of freedom when and how to perform experiments. In biomedical research it is fascinating that often unexpected results or even failure of experiments lead to outstanding discoveries. Imagine for example an architect building a bridge instead of a house. While this architect would probably not be rewarded, Alexander Fleming got the Nobel Prize for the discovery of Penicillin after a fungus had accidentally contaminated his bacterial culture. Sometimes science is like gambling.

4. What is your ultimate goal in life?
If there was an ultimate goal, it would be extremely boring to reach it. The passion of working towards each and every goal is driving me. I just hope that I remain privileged to do something interesting to make a living.

Natalia Guseva

Date and city of birth
17th of April, 1974 in Kharkov, USSR.

What is your current position?
My present position is a postdoctoral researcher at the Human Genetics group, Laboratory of Biological Microchips, Engelhardt Institute of Molecular Biology in Moscow, Russia.

Why did you choose a career in genetics?
I have chosen a career in genetics because it is an exciting field of research and will bring many new discoveries in the future. Cancer is a genetic disease. I think studying genetics can offer answers for fundamental questions about development and underlying causes of cancer.

What do you really like about this research?
Three dimensional biochips is a cutting-edge technology that allows streamlining clinical diagnostics, making it more effective and cost-efficient. I like most about my research that it lies in the area where genetics meets the need of people in the real life. If timely and correctly diagnosed, children with leukemia have very good chance to survive and recover from the malignancy.

What is your ultimate goal in life?
My ultimate goal in life is to live for a cause, to grow in my talents, to do good science, and to be able to help people, saving them from the power of death and disease.

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Johannes Kapeller

Date and city of birth
February 27, 1978 in Bad Friedrichshall, Germany 

What is your current position?
I am currently working as a PhD student at the Department of Human Molecular Genetics in Heidelberg, Germany.

Why did you choose a career in genetics?
My first contact with genetics was in high school. I was fascinated by Mendel´s studies of the inheritance of traits. Later at university, this interest deepened when I studied the molecular mechanisms involved in genetics and the role of genes in human diseases. 

What do you really like about this research?
For me, working in the field of human genetics is the perfect combination of biological and medical research. Being part of a project that mainly focuses on complex disorders is both, exciting and very challenging. I like that. And I love to do lab work – give me a pipette and I´m happy. 

What is your ultimate goal in life?
Winning an Oscar as best supporting actor in a movie with Nicole Kidman ! No seriously, there are so many goals and steps ahead – I just hope I can achieve most of them and live a happy and meaningful life.

Ivana Kolcic

Date and city of birth
18.05.1979, Zagreb, Croatia 

What is your current position?
Research trainee in epidemiology (PhD student), MD

Why did you choose a career in genetics?
With Human genome project a new era in human genetics and medicine has begun. I wanted to be a part of it. As an MD, I believe that genetics offers numerous possibilities for development of both new diagnostic and treatment procedures which could improve the quality of life and also save human lives on a greater scale.  

What do you really like about this research?
The possibility to be involved in research that can lead to new findings, especially those that can be applied in medicine, as well as understanding the underlying mechanisms for complex diseases that comprise substantial burden of disease globally. 

What is your ultimate goal in life?
To contribute to the global knowledge on complex human diseases and apply at least a part of this knowledge in medical practice.

Pirkka-Pekka Laurila

Date and city of birth
March 3, 1982 Helsinki, Finland

What is your current position?
I’m doing my PhD on molecular genetics of common dyslipidemias at the National Public Health Institute of Finland. Along with my research, I am a fifth year medical student at the University of Helsinki.

Why did you choose a career in genetics?
Genetics is probably the fastest evolving field in science as major breakthroughs emerge almost every week. This is a result of international cooperation and complete sequence of the human genome. It is a treat to work with the most brilliant, attractive, coolest and funniest people, and be part of the global team solving the mysteries of complex diseases. In genetics, ideas from other disciplines, such as math, biochemistry, medicine and computer science, dovetail with one another to form beautiful intellectual edifices. This synchronization of cross-disciplinary expertise will eventually lead to a better understanding of human diseases. 

What do you really like about this research?
USF1 is a fascinating molecule; being a ubiquitous transcription factor, a multitude of biological pathways appears to be regulated by the gene. Since we discovered that USF1 was associated with blood fat levels, a fundamental question remained: Is USF1 itself ultimately good or bad for your arteries? My research sheds light on this subject: as mice lacking Usf1 have lower blood fat levels than their littermates having the gene, not having USF1 might actually be good for you! 

What is your ultimate goal in life?
I want to do science with ‘passion and compassion’, i.e. aim for the very top, but still treat other people with respect and consideration along the way as well as maintain a sense of (quality) humor. I hope some of the findings in my research will turn out to clinically relevant in treating cardiovascular disease. While waiting for that, I hope to find the abstract beauty of genetics of lipid metabolism and other aspects of my research. I wish I could give my best in everything I’m involved with, whether it was science, music, medicine, or people around me, and enjoy the fruits of my work.

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Divya Deepak Mehta

Date and city of birth
27th November, 1982. Mumbai, India

What is your current position?
I am a final year PhD Student working on an NGFN funded project in the group of Prof. Meitinger at the Institute of Human Genetics, GSF/Helmholtz Research Center, Munich. 

Why did you choose a career in genetics?
At the University of Sheffield, I had the opportunity to study a range of subjects in the first year. Genetics and its role in health and disease, increasing in detail from population to the basic molecular level, fascinated me. So, in my second year, I changed to the more specialized BSc in Genetics course. From then on I passionately pursued my goal of becoming a Human Geneticist by completing the MSc Degree in Human Molecular Genetics at Imperial College London and then joining the PhD program.  

What do you really like about this research?
Since 2006, there has been an explosion of Genome-wide association studies mapping novel susceptibility regions for common diseases. Although extensive research has been done in different populations and various tissues, a lot still remains unknown. Each new study will unravel unidentified aspects of the genome and add to the existing knowledge of genetic variation. What I really like about my research is that this field of study is still at a nascent stage. The future holds the possibility of a lot of breakthroughs.  

What is your ultimate goal in life?
I am thoroughly enjoying my research in the field of genomic variation and the life-long learning that goes along with a career in Genetics. I aim to contribute in the development of innovative genome wide association strategies for gene discovery and employ them to elucidate the genetics of complex diseases. This would ultimately aid in disease prevention and treatment, new therapeutics, and maintenance of health. 

Florence Molinari

Date and city of birth
I was born in June 15th 1978, in Provins, a medieval town located at 80kms from Paris 

What is your current position?
I am a researcher in the Human Genetics Department of Necker-Enfants Malades Hospital, Paris France. More precisely, I'm searching for genes involved in autosomal recessive mental retardation. 

Why did you choose a career in genetics?
When I started, I wanted to help patients, to better understand their disease and maybe to cure them. And I realized that the bases of much disease are mutations in genes ! So the first step to cure a disease is certainly to identify the gene and then understand the mechanisms which underlie this disease. 

What do you really like about this research?
Each time that I found a gene, it was a novel mechanism, a novel field. So I learned new informations and made collaborations with a lot of different people. It is so rewarding.

What is your ultimate goal in life?
Don't Worry, Be Happy !! I think there is no ultimate goal in life, each time you reach a goal, you have to find another one!! But I think that I would be very happy the day that I would find a solution to cure people from a disease and to give them hope in life !!

Filomena Tiziana Papa

Date and city of birth
February 02, 1977 in Foggia, Italy

What is your current position?
I am a PhD student of the Medical Genetics Section of the University of Siena (Italy).
My research project focuses on the identification of the genetic causes in patients with mental retardation and multiple congenital anomalies through genome wide array-CGH analysis.

Why did you choose a career in genetics?
After my degree in Biological Sciences, I decided to switch my research interests from proteomics to human genetics because I was fascinated by “gene hunting” through linkage analysis. After that era, I felt in love with array-based techniques that allow “to get a glance” on the entire genome of a patient in a single experiment.  

What do you really like about this research?
I deal with array-CGH and I am very amaze by progresses of technologies and by the power of bioinformatics tools. Furthermore, results of my research have often an immediate application in clinic and this makes me fell useful, at least in part, for patients and their families.

What is your ultimate goal in life?
I hope to continue to study molecular cytogenetics and to spent a period abroad to exchange my scientific ideas with other researchers working in this fascinating field. 

Talk: PL2.3 G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth
Date: May 31, 2008 - 18.30 - 20.15 hrs

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Date and city of birth
November, 26, 1981, Paris, France.

What is your current position?
I am currently in the last year of my Ph.D. at the Genetics Department of the Rappaport Medical School of the Technion, Haifa, Israel.

Why did you choose a career in genetics?
Since my first class in genetics in high school, I was fascinated by family pedigrees. The time has passed and my passion for genetics has grown. Now I am fascinated by all the progress and discoveries that have been made during the last years. It gives us the feeling that our research is important and that we can make things better by our efforts and eagerness.

What do you really like about this research?
You can never know for sure what you will discover. You have expectations and hypothesis but you also have surprises and they all together lead to new findings.
There is excitement, challenge and you never get bored.

What is your ultimate goal in life?
I want to have my own lab, where I can conduct research, knowing that someday, our findings will help patients and improve their health but also their life quality. No less important, I want to have, at the same time, a fulfilling family life and enjoy each and every moment with the people I love.

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Date and city of birth
December 20th, 1978 in Madrid 

What is your current position?
I am a PhD student in the Centro de Biología Molecular Severo Ochoa in Madrid, Spain. 

Why did you choose a career in genetics?
I became interested in Biology during high school lessons and this interest increased during my study.  

What do you really like about this research?
I enjoy laboratory work because there are many new and surprising things to find out about genes and proteins. 
What is your ultimate goal in life?
My ultimate career goal would be discovering a new therapy for MMA patients. Outside of my career, my ultimate goal in life is set up a home and start my own family. 

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Serena Sanna

Date and city of birth
November 15, 1980, San Gavino M., in the Sardinian Province of Cagliari, Italy 

What is your current position?
I’m currently a Post doctoral collaborator of the Institute of Neurogenetic and Neuropharmacology of the Italian National Council of Research, 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... “chromosome”? “nucleotide”??? “Mitocondrial DNA”?? are you cursing??? Then I started to go deeper and deeper in the field, knowing about statistical genetics: the wedding. All the theory on statistics, analysis, programming found a reason to exist: we can use all those infinite (but still numerable) formulas to calculate the probability that one particular mutation is associated to a disease. 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’s attracting and motivating me is that I’m studying my population: the Sardinian. Isn’t great that a Sardinian scientist, studying the Sardinia population in a Sardinian lab, is able to discover something that may be useful for Sardinian’s and world while people’s health??

What is your ultimate goal in life?
I would like to have two big families: my private one, with my husband and my children, and the business one, with a lot of students and colleagues working in my OWN lab. 

Bernard Thienpont

Date and city of birth
May 22th, 1980 in Wilrijk 

What is your current position?
I am a PhD student at the Center for Human Genetics in Leuven, Belgium

Why did you choose a career in genetics?
I started as a engineer of cellular and genetic biotechnology, and was attracted by the wide view used when addressing problems. I however quickly learned that I preferred working on solving problems of humans rather than of plants or bacteria. Now I thoroughly enjoy the combination of doing interesting and challenging research, and making a significant difference in the lives of people.

What do you really like about this research?
I like the collaboration we established between clinical genetics, bio-informatics and developmental biology. It is at this interface that insightful discussions arise and where we all learn that there is a lot of truth in the cliché "a collaboration is more than the sum of its individual components".

What is your ultimate goal in life?
My face on a stamp and a city named after me :).
No, I do not to strive for an ultimate goal in life. I try to enjoy life every day by remaining challenged, curious and focused, by making the people around me happy and by making a difference where I can.  

B.W.M van Bon

Date and city of birth
09-07-1981, Wamel, The Netherlands 

What is your current position?
I am combining my training to become a clinical geneticist with my PhD project on different forms of genomic imbalance in mental retardation.

Why did you choose a career in genetics?
Working in clinical genetics gives me the opportunity to combine those activities I enjoy the most. Which are the relationship with my patients and the chance to find answers to numerous questions. Being “a doctor in the lab” I am able to mix and to understand the best of two worlds.  

What do you really like about this research?
Besides the combination of research and clinical work there is another fact that I especially enjoyed about this 1qter deletion study: Namely, the international character of this project. It is amazing what you can achieve working together with so many different people from different places.

What is your ultimate goal in life?
To stay curious. Curious for the stories of patients, curious for questions of students and curious to unravel small parts of unknown genetic science.  

Steven Van Vooren

Date and city of birth
June 10th, 1977 

What is your current position?
PhD Student at Katholieke Universiteit Leuven 

Why did you choose a career in genetics?
I started off as a computer scientist with a keen interest in Life, The Universe, and Everything. After additional master degrees in Artificial Intelligence and in Bioinformatics, I eagerly took the opportunity to start a PhD project at the Engineering Department where I focused on biomedical text mining. Along the way, I oriented my research towards Informatics in Medical Genetics. This exciting field is a place where statistics, data mining algorithms, machines, systems and networks meet Life itself. 

What do you really like about this research?
What I really like about this field is how research in Data Mining combined with the principles and practices of Software Engineering are applied to human genetics and biomedical problems, and lead to advances in both biomedical research as in clinical practice and day to day diagnostics. 

What is your ultimate goal in life?
A warm bed, a kind word, and unlimited power. 

Manuela Vecsler 
Tel-Aviv, Israel

Talk: C07.3 Mechanisms of MECP2 function underlying Rett syndrome as revealed from overexpression and knock-down systems in vitro
Session: C07 Molecular and biochemical basis of disease - Neurogenetics
Date: June 2, 2008 - 15.00 - 16.30 hrs

Date and city of birth
14th of January 1977, Brasov, Romania 

What is your current position?
I am in the final phase of my PhD studies at The Graduate School of Sackler Faculty of Medicine, Tel Aviv University, in Israel. In addition, I am a fellow at the Sagol Neuroscience Center, at Sheba Medical Center, Israel.  

Why did you choose a career in genetics?
It seems to me that knowledge in the fields of clinical and medical genetics and molecular biology hold promise for better condition of humanity, healthcare and understanding human varition. It is also a very fascinating and dynamic field that provides lots of stimuli and challange.  research. 

What do you really like about this research?
My current research is foccused on a fascinating human condition and its gene, which is Rett syndrome a neurodevelopmental disorder and its major causative factor, the MECP2 gene. I am trying to understand how anomalies in single gene function can explain a complex phenotype including severe regression in controlled movements, social skills and mental retardation.I have been using the most updated molecular technologies to identify and focus on specific functions of MECP2 and show their outcomes on the molecular and sub-cellular levels. 

What is your ultimate goal in life?
I am looking forward to learn more the inteligence hidden in the molecular processes of life. I think that cosmopolitic and open milieu of the scientific community provides great apportunities to achieve this personal goal. On a general level, I hope to be able to make a significant contribution to global improvement prevention of human disease.  

Nienke Verbeek

Date and city of birth
June 14th, 1977, Hengelo, the Netherlands 

What is your current position?
Resident Clinical Genetics 

Why did you choose a career in genetics?
Because of my interest in genetics I started studying Biomedical Sciences. Later on, I combined this study with Medicine, which gave me the opportunity to start specialising as a clinical geneticist. In my opinion this is the ideal combination of helping people make their choices, and being involved in genetic research. 

What do you really like about this research?
Benign familial neonatal convulsions is an interesting disorder, because it is a self-limiting condition. However the benign outcome is in strong contrast with the emotional stress of parents of a neonate with convulsions.  

What is your ultimate goal in life?
In professional life my goal is to become a clinical geneticist with good diagnostic and counselling skills. In addition to this, I hope to further develop my scientific skills.  

Alexandra Zhernakova

Date and city of birth
I was born on 19th April 1971 in St. Petersburg, Russia

What is your current position?
After graduating from the Russian Medical Academy in 1994, I specialized in medical genetics and worked in the Centre of Medical Genetics in St. Petersburg. After moving to the Netherlands, I started working ion genetic research projects as a technician and am now working on my PhD in the Complex Genetics Group, University Medical Centre, Utrecht.  

Why did you choose a career in genetics?
I started my career in clinical genetics because this was the perfect opportunity to combine the clinical work and be on top of the fast developing world of genetic research. Now I miss the clinical part, but that is mostly compensated by the fascinating discoveries in the research field that I am now involved in.

What do you really like about this research?
Genome-wide association studies have greatly improved our understanding of the genetic basis of autoimmune and inflammatory disorders. Celiac disease is one of the most successful examples of this research and a perfect model for studying both autoimmunity and intestinal inflammation. 

What is your ultimate goal in life?
My ultimate goal is to be useful to people and society, and I hope that my research will help in discovering new possibilities for treatment and prevention of various diseases. My everyday goal is finding the optimal combination of my very intensive work, caring for three children and making time for my various hobbies.