Our research
When we age, our tissues are characterised by a progressive loss of tissue function and regenerative capacity, which limits our physical performance and general health. The purpose of our research is to increase the knowledge about specific genetic and molecular factors that influence the onset of age-related diseases and affect health and disease. Advances in genomic technologies have made it possible to analyse somatic mutations in the whole genome of human cells and show that all cells accumulate mutations during development and ageing. This ongoing mutagenic process results in a tissue composed of cells with different genetic makeups, and is referred to as somatic mosaicism.
The specific aims include the development of a genetic atlas of somatic mutations across various cells of the human body. This atlas helps us to improve the current understanding of genetic events in cancer development and age-associated diseases, and to better comprehend the mutational processes that lead to differences in the somatic mutation landscape in different cells. Our results may also contribute to the development of therapies that could counteract the propagation of somatic mutagenesis, for example by the activation of DNA repair. Our results indicate that the underlying mechanism responsible for age-related somatic mutagenesis, across most tissues, is the gradual loss of efficiency of DNA repair systems with ageing (Franco, Helgadottir et al., 2019).
Other projects in the lab include the study of the very rare premature ageing disorder Hutchinson-Gilford Progeria Syndrome (HGPS, progeria) and the development of novel treatment strategies. HGPS affects one in 18 million individuals and is caused by a de novo point mutation in the lamin A gene, LMNA c.1824C>T, leading to mis-splicing and production of a truncated lamin A protein named progerin. Children show typical symptoms of accelerated ageing and die in their teens due to accelerated atherosclerosis and cardiovascular disease. The underlying pathomechanisms remain unclear andclinical trials have shown only limited success.
The impact of our studies may be beneficial for ageing and promote healthy ageing, as well as encouraging the identification of novel treatments that alleviate age-associated diseases.
Looking for new group members
We are looking for talented and highly motivated postdocs and students to join our research group.
To apply, Please submit cover letter, CV with publication list, and contact information of two references to the group leader: Maria.Eriksson.2@ki.se
Research Networks
- European Joint program on Rare Diseases (EJPRD), coordinator 2020-2023
- European Society of Human Genetics
- American Society of Human Genetics
Prizes/Awards
- 2023 Rönnberg's prize in aging and age-related diseases to Gwladys Revechon (3 years funding 2024-26)
- 2019 Jeansson’s foundation to Irene Franco
Looking for a BSc or MSc project?
Undergraduate students (BSc, MSc in Molecular biology or similar) with an interest in molecular genetics and who find our research of interest may send an email to Maria Eriksson. We usually accept one undergraduate student per semester. Please include a CV and a letter of interest.