Maria Eriksson has an extensive background in medical genetics, i.e., searching for genes and genetic mechanism that lead to disease. As a principle investigator and team manager, she focuses on molecular mechanisms and bridging genetic variation to tissue pathology associated with aging. While physiological aging research currently generates enormous public interest, the genetic contribution isn’t well understood.
At CIMED, Eriksson and her research team concentrate on two main objectives, namely, to:
- Analyze somatic genetic variation and its changes during aging in various human tissues (using genome. sequencing)
- Further investigate mechanisms behind Hutchinson-Gilford progeria syndrome – a very rare genetic disease.
LMNA gene mutations cause most progeria cases; the gene encodes lamin family proteins. Lamin A and C, two major proteins produced from LMNA, are crucial for scaffolding in the nuclear envelope that surrounds a cell’s nucleus. Progeria-afflicted children are normal at birth but start developing multiple symptoms of premature aging during their first years of life. Most children with progeria die in their early teens due to cardio-vascular disease and atherosclerosis complications.
Eriksson’s research team has on-going collaborations with clinics at the Karolinska University Hospital in Huddinge, where they are sequencing stem cell DNA from various human tissues to analyze how mutations accumulate during aging. The team is also testing new treatments for progeria syndrome in mouse models.
“I believe that being part of CIMED provides secure, long-term funding and an opportunity to become part of a research environment that aims to be on the cutting edge. Supportive functions along with the diverse research interests among our colleagues benefit and stimulate discussions and innovative thinking.”
Eriksson is an associate professor in medical genetics and team manager in the Biosciences and Nutrition department at Karolinska Institutet.
She got her PhD training in the lab of Professor Maria Anvret in the Clinical Neuroscience department at Karolinska Institutet. Between 2001 and 2003, she held a postdoc position at the National Human Genome Research Institute, National Institutes of Health, in Bethesda, Maryland.
In 2003, Eriksson received the Lennmalm award for (i) discovering the progeria syndrome gene and (ii) developing of an efficient method for:
- Gene expression detection
- Analysis of the molecular background of dystrophia myotonica type-I, a muscular disease.
Eriksson is a member of the medical research committee of the Progeria Research Foundation in the US. Since 2012, she has held a special volunteer appointment at the National Institutes of Health in Bethesda, MD.