The projects in this doctoral thesis were completed at the Folkhälsan Research Center, and at the Department of Medical and Clinical Genetics, Medicum, University of Helsinki. I would like to thank Professor Anna-Elina Lehesjoki, director of the Folkhälsan Research Center, for providing excellent resources and facilities for the research. I would also like to thank Anna-Elina for always being supportive of the research work and activities during my years at Folkhälsan.
I wish to thank the following foundations and organizations for funding these projects: the Folkhälsan Research Foundation, the Finska Läkaresällskapet, the Päivikki, and Sakari Sohlberg Foundation, the Biomedicum Helsinki Foundation, Magnus Ehrnrooth Foundation, the Jane ja Aatos Erkko Foundation and the Sigrid Jusélius Foundation. In addition, I am grateful for the financial support received for participation in different national and international conferences from the University of Helsinki funds, the Chancellor’s travel grant, Doctoral programme of Integrative Life Sciences (ILS), the Doctoral School of Health (DSHealth), and the World Muscle Society. I am grateful for all the financial support that has made this work possible.
I would like to thank the Faculty of Biological and Environmental Sciences, University of Helsinki, and the Doctoral programme of ILS for the opportunity to carry out my doctoral studies. I wish to thank Professor Juha Partanen for acting as the Custos at my Thesis Defence. I am grateful to the faculty-appointed pre-examiners, Professor Merilee Needham, and Dr. Hannele Koillinen for thorough examination of my thesis. Your expertise and comments were extremely valuable and allowed me to improve my thesis.
I would like to express my deepest gratitude towards my supervisor Professor Bjarne Udd for his inexhaustible and
contagious enthusiasm towards molecular diagnostics of rare muscles diseases and muscle research. I thank him for being a highly supportive mentor in this journey, for having confidence in my abilities, and for providing a high-quality research environment in the group. I feel like I have inherited your goal of providing a molecular diagnosis to as many difficult cases as possible. I thank you for giving me a great amount of independence and allowing me to grow freely and acquire new skills under your supervision. I have learned so much from you and now I know that “with a great amount of independence comes great responsibility”.
I would like to thank Docent Peter Hackman, the co-supervisor of my Ph.D., for many unforgettable moments during these years. It would have been a very different journey without your inputs and efforts. I thank you for your invaluable advice both on work and outside work issues that made things easier over the years. I also thank Docent Kati Donner and Docent Mikaela Grönholm, the external members of my thesis advisory committee, for guidance, fruitful discussions, and the supportive environment at the thesis follow-up meetings and beyond.
I wish to express my gratitude towards Marco Savarese, my mentor and closest friend in Helsinki. Your guidance and expertise in genetics and especially muscle diseases inspired me to work in this field of research. I thank you for being there during the difficult times in this Ph.D. journey and for sharing the moments of success. I am glad that this journey has finished in this way, and it would not have been possible without you.
I would like to thank Anni Evilä, my colleague and first teacher in the research group for providing a strong foundation for the molecular diagnostics of rare neuromuscular diseases.
Thanks to ‘boss’ Meharji Arumilli, for being an amazing friend and colleague in the research group. It took some effort to feel comfortable with acquiring and developing bioinformatic skills and it was your support and inspiration
that made it possible. Thanks to Johanna Palmio and Manu Jokela for years of group work in these projects and inspiration to continue working in the diagnostic research.
Thanks to Per Harald Jonson, for his friendship, wonderful discussions, similar quality of wonderful jokes, and for peer-inspiring (not at all peer-pressuring) me to binge-watch The Simpsons. I used it as a ‘white noise’ while writing manuscripts and thesis. I would like to thank Anna Vihola and Jaakko Sarparanta for an amazing time during these years in the research group, fruitful discussions, and their contributions to the IBM and SMPX projects. I am grateful to work in a team with you. Thanks to Salla Rusanen, Helena Luque, Merja Soininen, Sara Lehtinen, and Sini Pentilä for their help in different projects and for being a good company during group activities. I wish to thank you all for many years of collaborative work on different projects and for the fun company during WMS and other conference trips and our summer cottage meetings. Thanks to Giorgio Tasca for his friendship, contributions to IBM and distal myopathy research projects over the years, and fun company during WMS meetings. All the co-authors of the original publications outside the Udd group are thanked for their invaluable contributions to the projects.
I would like to thank Carina Wallgren-Petersson and Katarina Pelin for their support and guidance over the years.
I would also like to thank our Muskelklubb and other NEM group members, Vilma Lehtokari, Jenni Laitala, Lydia Sagath, Johanna Lehtonen, and Marilotta Turunen for their friendship, many years of fun discussions and collaborative work, and for being an irreplaceable company during WMS and other conference trips. I truly believe I have made friends for life. Thanks to Saara Tegelberg, Ann-Liz Träskelin, Anmol Kumar, and Eduard Daura for being a great company in the research center during these years.
Thanks to Marjatta Valkama, Jaana Welin-Haapamäki, Åsa Rehn, Nina Forss and Sebastian Oey for efficiently
running the administrative and financial department at the Folkhälsan Research Center.
I would like to thank Susanna Fagerholm and Liisa Uotila for their support and guidance as part of the ILS board.
I would also like to thank Erkki Raulo for many years of friendship, invaluable guidance, and fun times during ILS activities. We shall celebrate the end of this Ph.D. journey and all our past times together.
I wish to thank Vanessa Fuller, a wonderful human being, and an amazing teacher. I am so glad to have met you and attended several of your courses. Thank you for your support and improving my academic writing skills.
One of the best experiences of this journey has been the ILS student council. I would like to thank the different generations of the ILS student council especially Kornelia, Geri, Alok, Maarja, Heidi, Heini, Sawan, Siggi, Elina, Tuomo, Kul, Ilida, Behnam, Isabel, Larissa, Jurgita, and Johanna.
Thank you so much for every meeting and all the different events that we have organized together. It was a joy to get to know about your work and life and to get inspired from our common struggle in search of a balance. It was an amazing experience to work as a team and I feel this was the best non-research-related part of my Ph.D. journey. I would like to acknowledge Kornelia for her beautiful friendship and support during these years. You are extremely wise, and I thank you for being there. I would also like to thank past and current members of the Biotech club and especially Darshan for his friendship, fun, and our ‘philosophical discussions’ over the years with Behnam. I would also like to thank the TEDx team especially Chiara and Shishir for their friendship and fun time over the years.
Thanks to my dear friends Tania Singh and Vaibhav Diwan. Reaching this stage and being a Ph.D. was a common
dream for all three of us. Thank you for over a decade of love and support.
I would like to thank my family, my parents, and my brother for their love, patience, and support over the years. I express my love and gratitude towards nanaji, my maternal grandfather, and amma, my late grandmother. You were my first teachers and I dedicate all the struggles, learnings, and successes in this journey to you.
I would like to acknowledge the contribution of Petri R in recent years to help and guide me during turbulent times especially in the last year and motivating me to finish writing.
I would like to especially acknowledge the influence of Roger Federer on my Ph.D. journey and beyond. The beginning of this journey was tough and turbulent at most times. The first few years were about negative findings, exclusions, or failing to understand the results. I have been following Roger since 2003 and I was always amazed at how the most talented tennis player in history deals with failures, rejections, losses, and heartbreaks. There is growth and resilience in these failures and defeats but there is also understanding to not judge yourself harshly. There is love in knowing that at the end of this Ph.D. journey I will have my
‘Roger Federer moment’, where I will feel the relief of having finished this journey. I have found joy in what I do, undeterred by the failures and the successes, and a belief in self-improvement. There is wisdom in those golden words by Rudyard Kipling carved on the archway above the entrance to the Center Court, Wimbledon: If you can meet with Triumph and Disaster and treat those two imposters just the same.
Helsinki, October 2021