PI, MD, Dr. Med. Sci., Docent
Carina Wallgren-Pettersson, the Principal Investigator, coordinates the scientific efforts of the Research Group on Nemaline Myopathy and Related Disorders, The Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, together with her Co-PI Katarina Pelin. Carina is a Medical Doctor specialised in Medical Genetics, working as a clinician and Head of Department at the Folkhälsan Department of Medical Genetics, and as a teacher at the University of Helsinki. Her research has concentrated on neuromuscular disorders, mainly on nemaline myopathy and previously also on myotubular myopathy, and related congenital myopathies. She initiated the ENMC International Consortium on Myotubular Myopathy in 1993 and coordinated its research activities until January 2000. Together with Professor Nigel G. Laing in Perth, Australia, she has been coordinating the activities within the ENMC International Consortium on Nemaline Myopathy since 1996, among other work defining diagnostic criteria and clinical classifications of the nemaline myopathies. Carina initiated the network called the Finnish Neuromuscular Club and was one of the initiators of the Finnish network on muscle disorders in children and, most recently, the European Reference Network NMD-FIN Consortium, now accepted as part of EURO-NMD.
Co-PI, PhD, Docent
Katarina Pelin, together with Carina, coordinates the work of the research group. She initially joined the group as a postdoctoral researcher in 1996 after receiving her PhD degree from the University of Helsinki. Her first task was to identify the gene causing autosomal recessive nemaline myopathy, which turned out to be the nebulin gene, in which she identified the first disease-causing mutations in 1998. She has been working on the molecular genetics of nemaline myopathy ever since, and in 2012, she became the Co-PI of the group. She also teaches Human Genetics, as a University lecturer since 2003 at the Faculty of Biological and Environmental Sciences at the University of Helsinki.
PhD, MSc (Nutrition), Senior Scientist
Vilma-Lotta Lehtokari has a BSc degree in engineering in bio- and food technology from the Polytechnic of Espoo-Vantaa (2000). In 1998, she studied at the Cork Institute of Technology as an exchange student. Her studies continued at the University of Jyväskylä, and she received her Master's degree in Biotechnology in 2003. Over the years 2004-2009 Vilma-Lotta worked as a doctoral student in the Wallgren-Pettersson/Pelin lab and defended her doctoral thesis, titled "Molecular genetic studies on nemaline myopathy and related disorders", in June 2009. In 2010 she embarked on her studies in nutritional sciences at the University of Helsinki and received her second Master's degree in 2016. She worked simultaneously as a post-doctoral fellow, doing research into the molecular genetics of nemaline myopathy and related disorders. Vilma-Lotta currently continues her work in Genetics but has also expanded her studies towards the nutrition and functioning of people with muscle disorders.
PhD, European Clinical Laboratory Geneticist, Senior Scientist
Kirsi Kiiski has received her Master's degree in Human Genetics from the University of Helsinki in 2007. After that, she worked for three years at the Laboratory of Cytogenetics in HUSLAB, mainly in research and development, to establish and validate molecular karyotyping for routine constitutional diagnostics. From the beginning of 2011, she joined the Wallgren-Pettersson/Pelin research laboratory to work on her PhD. She focused on developing new diagnostic methods such as a targeted custom array-CGH protocol for nemaline myopathy and related muscle disorders, receiving her Licenciate Degree in 2014 and PhD in 2015. At the same time, she completed her clinical training for the Clinical Laboratory Geneticist Degree in the United Medix Laboratories and HUSLAB, receiving the Clinical Laboratory Geneticist Degree in 2014 and an EBMG certified ErCLG Degree in 2016. Kirsi has continued her research in the field of muscle disorders and acts as a supervisor for MSc and PhD students in the group. Kirsi also works in the HUSLAB Laboratory of Genetics as a CLG focusing on constitutional cytogenetics and copy number variant diagnostics.
PhD, Docent, Affiliated Senior Scientist
Mikaela Grönholm currently works with immunotherapy for cancer at the Faculty of Pharmacy, University of Helsinki, but has previously investigated the role of the cell cytoskeleton in migration and signaling, and the molecular mechanisms of Z-disc proteins in skeletal muscle. She has been involved in the research of this group since 2010, providing help with technical and research questions related to the biochemical and cellular properties of nebulin and its associated proteins, and as a co-supervisor of two PhD students.
PhD, Postdoctoral Fellow
Currently a visiting scientist at Julien Ochala's lab, Copenhagen
After graduating from the University of Helsinki in 2009 with a Master's degree in Human Genetics, Jenni Laitila has studied nebulin genetics and function in the Wallgren-Pettersson/Pelin lab and the Laing/Nowak lab in Perth, Western Australia. She has studied the expression of nebulin RNA in diverse muscles, interactions of the enormous nebulin protein, and effects of mutations in a novel disease model she characterised in Australia as part of her PhD. In September 2019, she defended her Doctoral Dissertation based on her studies of nebulin-related nemaline myopathy. In her postdoc project, she will continue elucidating the various aspects of muscle function in health and disease in Professor Julien Ochala's lab in Copenhagen.
Johanna Lehtonen graduated from the University of Helsinki in 2017 with a Master's degree in Human Genetics. She subsequently started her doctoral studies in the Wallgren-Pettersson/Pelin lab and has also worked at the Institute for Molecular Medicine Finland in the Saarela lab. She has expertise in analyzing high-throughput sequencing data. After concluding an exome or genome analysis interpretation, Johanna studies functionally putative pathogenic variants in the laboratory. She has been working with patient cell lines and various in vitro models. Her research focuses on rare disease genetics, including nemaline myopathy.
MSc, PhD Student
After receiving her Master's degree in Human Genetics from the University of Helsinki in 2016, Lydia Sagath joined the Wallgren-Pettersson/Pelin lab to embark her studies towards a PhD. Her work includes the development of diagnostic methods for nemaline myopathy and related disorders, such as the targeted custom CGH-array and a novel ddPCR method. In addition, she does functional characterization work with a putative disease-causing gene, and completed part of the project as an ASLA-Fulbright pre-doctoral fellow at the Lange lab at the University of California, San Diego.