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University of Groningen Cold cases in epidermolysis bullosa: not the usual suspects Turcan, Iana

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University of Groningen

Cold cases in epidermolysis bullosa: not the usual suspects

Turcan, Iana

IMPORTANT NOTE: You are advised to consult the publisher's version (publisher's PDF) if you wish to cite from it. Please check the document version below.

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Publication date: 2018

Link to publication in University of Groningen/UMCG research database

Citation for published version (APA):

Turcan, I. (2018). Cold cases in epidermolysis bullosa: not the usual suspects. Rijksuniversiteit Groningen.

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Downloaded from the University of Groningen/UMCG research database (Pure): http://www.rug.nl/research/portal. For technical reasons the number of authors shown on this cover page is limited to 10 maximum.

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518316-L-sub01-bw-Turcan 518316-L-sub01-bw-Turcan 518316-L-sub01-bw-Turcan 518316-L-sub01-bw-Turcan Processed on: 10-4-2018 Processed on: 10-4-2018 Processed on: 10-4-2018

Processed on: 10-4-2018 PDF page: 171PDF page: 171PDF page: 171PDF page: 171

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518316-L-sub01-bw-Turcan 518316-L-sub01-bw-Turcan 518316-L-sub01-bw-Turcan 518316-L-sub01-bw-Turcan Processed on: 10-4-2018 Processed on: 10-4-2018 Processed on: 10-4-2018

Processed on: 10-4-2018 PDF page: 172PDF page: 172PDF page: 172PDF page: 172 Acknowledgements

This thesis would not have been possible without the help of so many wonderful people, who have been supportive of my scientific and career goals and who worked actively to provide me with the protected academic time to pursue those goals.

Foremost, I would like to express my sincere gratitude to Prof. dr. Marcel Jonkman. Dear Marcel, nobody has been more important to me in the pursuit of this scientific trajectory than you. I want to thank you for your trust, excellence, enthusiasm, patience, motivation and eagerness to challenge me. I have had the most interesting and stimulating discussions with you. These have helped me become a better thinker. With standing curiosity do I remember the intense, paused look of a master strategically deciding the best next step to follow. It was truly an honour to be a part of your research group. As my promotor and mentor, you taught me more than I could ever give you credit for here. You have shown me, by example, what a good scientist and leader should be like.

To my copromotor, Dr. A.M.G. Pasmooij, dear Marjon, I am highly indebted and thoroughly grateful for everything you have done. Your immense expertise, dedication and generous guidance were indispensable to the achievement of the scientific results of this thesis. Your personality and working style have a complimentary quality to mine and have proven to be of essential value. Not only are you a great scientist, but also a kind, upfront friend with an engaging sense of humour.

Dear Hendri, I am dearly thankful for your great support and kind nature during all these years. You were always available for a motivating discussion when I would get stuck and need further guidance. The thing that I particularly enjoyed, which in my opinion is one of your greatest strengths, was your dedication to look at things in depth and try to understand the underlying mechanisms. Also, your attention and great memory for relevant details helped gain the right knowledge, at the right moment, to make the next step in answering the scientific question.

This thesis was a result of collaboration with the Department of Genetics of the UMCG and I want to extend my gratefulness to all the members of the research group who have contributed to this thesis. Foremost, Prof. dr. Richard Sinke. Dear Richard, thank you for your expertise in the solving of our ‘cold case’ population. I have very much appreciated your inputs at our GenDerm meetings and I am thankful to you for enriching our insight in the genetics research methodology. Following, I would like to thank Dr. van den Akker. Dear Peter, your critical inputs during our meetings and during manuscript preparation were very valuable to me. I have learned a lot from you and

enjoyed working with you both in the clinic and research. Last, but not the least to Dr. H. Lemmink. Dear Henny, thank you for your patience and dedication to solving our cases. I am grateful for the time you would take to double check if we have not missed a DNA mutation and for your input during our meetings.

I would like to extend my gratefulness to the members of the reading committee Prof. dr. H.H, Kampinga, Prof. dr. P.M. Steijlen and Prof. dr. A. Sonnenberg for reading and critically assessing my thesis.

Dr. Gilles Diercks, thank you for your work and input on histopathology in EB due to DST mutations. Your positive and enthusiastic personality was great to work with.

Miranda Nijenhuis, Janny Zuiderveen, Gonnie Meijer, Laura Vos and Duco Kramer I want to thank you all for your skills and expertise on immunofluorescence antigen mapping, (immuno)electron microscopy and immunoblot studies. Your work was essential for results in this thesis. You form a wonderful team and a solid ground for our outstanding immunodermatology lab!

José Duipmans, our EB Nurse Practitioner. Your dedication to EB patient care was truly inspiring to me. Your patient, interested and kind personality was enjoyable to work with. Thank you!

To Barbara Horváth, my residency director. Dear Barbara, thank you for being an inspiring dermatologist and residency director, someone who spontaneously finds time for a didactic moment and understands the importance of putting the accent on the relevant detail. Also, thank you for help and dedication especially towards the end of my thesis. You have taught me about the value of maintaining flexibility, let go and resilience in front of obstacles, which are very important skills in life.

Another person I want thank is dr. Bolling, dear Marieke, thank you for being an inspiring dermatologist, researcher and friend. I have had many wonderful discussions with you that have enriched me as a person and professional.

Katarina Ondrekova and Alberta Oolders, thank you for your help around logistics of my thesis defence and all the DermGen meetings I have participated at.

I would like to thank the present and former members of the Dermatology group, including staff, doctor’s assistants, administrative staff, photographer and my fellow residents. Dear colleagues, thank you for your generous contribution in my development as a specialist and your support and understanding during the writing of

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518316-L-sub01-bw-Turcan 518316-L-sub01-bw-Turcan 518316-L-sub01-bw-Turcan 518316-L-sub01-bw-Turcan Processed on: 10-4-2018 Processed on: 10-4-2018 Processed on: 10-4-2018

Processed on: 10-4-2018 PDF page: 173PDF page: 173PDF page: 173PDF page: 173 Acknowledgements

This thesis would not have been possible without the help of so many wonderful people, who have been supportive of my scientific and career goals and who worked actively to provide me with the protected academic time to pursue those goals.

Foremost, I would like to express my sincere gratitude to Prof. dr. Marcel Jonkman. Dear Marcel, nobody has been more important to me in the pursuit of this scientific trajectory than you. I want to thank you for your trust, excellence, enthusiasm, patience, motivation and eagerness to challenge me. I have had the most interesting and stimulating discussions with you. These have helped me become a better thinker. With standing curiosity do I remember the intense, paused look of a master strategically deciding the best next step to follow. It was truly an honour to be a part of your research group. As my promotor and mentor, you taught me more than I could ever give you credit for here. You have shown me, by example, what a good scientist and leader should be like.

To my copromotor, Dr. A.M.G. Pasmooij, dear Marjon, I am highly indebted and thoroughly grateful for everything you have done. Your immense expertise, dedication and generous guidance were indispensable to the achievement of the scientific results of this thesis. Your personality and working style have a complimentary quality to mine and have proven to be of essential value. Not only are you a great scientist, but also a kind, upfront friend with an engaging sense of humour.

Dear Hendri, I am dearly thankful for your great support and kind nature during all these years. You were always available for a motivating discussion when I would get stuck and need further guidance. The thing that I particularly enjoyed, which in my opinion is one of your greatest strengths, was your dedication to look at things in depth and try to understand the underlying mechanisms. Also, your attention and great memory for relevant details helped gain the right knowledge, at the right moment, to make the next step in answering the scientific question.

This thesis was a result of collaboration with the Department of Genetics of the UMCG and I want to extend my gratefulness to all the members of the research group who have contributed to this thesis. Foremost, Prof. dr. Richard Sinke. Dear Richard, thank you for your expertise in the solving of our ‘cold case’ population. I have very much appreciated your inputs at our GenDerm meetings and I am thankful to you for enriching our insight in the genetics research methodology. Following, I would like to thank Dr. van den Akker. Dear Peter, your critical inputs during our meetings and during manuscript preparation were very valuable to me. I have learned a lot from you and

enjoyed working with you both in the clinic and research. Last, but not the least to Dr. H. Lemmink. Dear Henny, thank you for your patience and dedication to solving our cases. I am grateful for the time you would take to double check if we have not missed a DNA mutation and for your input during our meetings.

I would like to extend my gratefulness to the members of the reading committee Prof. dr. H.H, Kampinga, Prof. dr. P.M. Steijlen and Prof. dr. A. Sonnenberg for reading and critically assessing my thesis.

Dr. Gilles Diercks, thank you for your work and input on histopathology in EB due to DST mutations. Your positive and enthusiastic personality was great to work with.

Miranda Nijenhuis, Janny Zuiderveen, Gonnie Meijer, Laura Vos and Duco Kramer I want to thank you all for your skills and expertise on immunofluorescence antigen mapping, (immuno)electron microscopy and immunoblot studies. Your work was essential for results in this thesis. You form a wonderful team and a solid ground for our outstanding immunodermatology lab!

José Duipmans, our EB Nurse Practitioner. Your dedication to EB patient care was truly inspiring to me. Your patient, interested and kind personality was enjoyable to work with. Thank you!

To Barbara Horváth, my residency director. Dear Barbara, thank you for being an inspiring dermatologist and residency director, someone who spontaneously finds time for a didactic moment and understands the importance of putting the accent on the relevant detail. Also, thank you for help and dedication especially towards the end of my thesis. You have taught me about the value of maintaining flexibility, let go and resilience in front of obstacles, which are very important skills in life.

Another person I want thank is dr. Bolling, dear Marieke, thank you for being an inspiring dermatologist, researcher and friend. I have had many wonderful discussions with you that have enriched me as a person and professional.

Katarina Ondrekova and Alberta Oolders, thank you for your help around logistics of my thesis defence and all the DermGen meetings I have participated at.

I would like to thank the present and former members of the Dermatology group, including staff, doctor’s assistants, administrative staff, photographer and my fellow residents. Dear colleagues, thank you for your generous contribution in my development as a specialist and your support and understanding during the writing of

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518316-L-sub01-bw-Turcan 518316-L-sub01-bw-Turcan 518316-L-sub01-bw-Turcan 518316-L-sub01-bw-Turcan Processed on: 10-4-2018 Processed on: 10-4-2018 Processed on: 10-4-2018

Processed on: 10-4-2018 PDF page: 174PDF page: 174PDF page: 174PDF page: 174 this thesis. I feel very grateful to work with you and am looking forward to the

remaining part of my residency!

Further, I am grateful to the EB patient organisations, including Debra Nederland, Debra international and Vlinderkind for their support of our work.

I am also much obliged to express my thankfulness to the EB patients, their strength and perspective on life command respect and admiration; their keen participation in the studies have made all this work possible.

Joost Meijer and Jeroen Bremer, my former scientific roommates! Thank you for engaging scientific discussions and motivational support to take a break once in a while! You were wonderful, I have much enjoyed our brainstorming over science methodology and figure design, many of which have found their inspiration due to our white board drawings.

Two important people, Angelique Poot and Ena Sokol, my paranyphms and dear friends. I am very lucky and grateful to have you in my life. Your wisdom, patience, courage and kindness inspired admiration and profound trust in me.

During the final period of my research and preceding the defence of the thesis I had the opportunity to work with and learn from dr. Cavezzi in Italy. Dear Attilio, thank you for your uncompromising, generous and passionate spirit. Your dedication in everything you do and ‘calore umano’ are truly unforgettable.

A special note to my dear friends Antonio, Federica, Alex, Lucia, Stella, Victoria, Laurentiu, Nadia, Artur, Anna who have each helped in their own way make life more beautiful, meaningful and fun!

Finally, I would like to thank my family, whose love and guidance are with me in whatever I pursue. They are the ultimate role models and provide unending inspiration. Dragii mei, vă mulțumesc pentru tot ce mi-ați dat. Eu vă sunt foarte recunoscătoare că ați văzut tot ce a fost mai bun și mai frumos în mine și m-ați susținut atunci când am avut greutați. Vă cuprind cu dor și va iubesc!

Iana, Groningen 2018

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