Research

Our research focuses on characterizing novel disease-causing gene variants, investigating in detail the functions of these genes in immune responses, and understanding how such genetic changes lead to disease. Identifying new diseases and their underlying molecular mechanisms will enable early diagnosis and screening, guide prophylactic interventions and genetic counseling, and reveal potential therapeutic targets for the development of novel treatments and curative gene therapies for IEIs.

Additionally, studying single gene mutations associated with disease will yield new insights into the molecular regulation of the human immune response and deepen our understanding of more common immunological disorders.

We also investigate gene regulation in human lymphocytes under both healthy and disease conditions.

• Mikko Seppänen, Rare disease center and Pediatric Research Center, HUS Helsinki University hospital and TRIMM, University of Helsinki
• Juha Kere, Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden and Folkhälsan Research Center, Helsinki
• Janna Saarela, Centre for Molecular Medicine Norway, University of Oslo, Norway and Institute for Molecular Medicine Finland, University of Helsinki
• Markku Varjosalo, Institute of Biotechnology, University of Helsinki
• Yasuhiro Murakawa, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan/Institute for the Advanced Study of Human Biology, Kyoto University, Kyoto, Japan.