Researcher of the Month

Researcher of the Month is a series started in January 2023 where FCI's researchers are introduced.

January 2024

K. Albin Johansson Cancer Research Fellow Outi Kilpivaara is a geneticist/molecular biologist, who did her PhD on inherited predisposition to breast and colorectal cancers, graduating in 2007 from the University of Helsinki. She then pursued her postdoctoral studies in the lab of Dr. Ross Levine at Memorial Sloan-Kettering Cancer Center in New York City. There she “transformed” into a hematological researcher focusing on especially myeloproliferative neoplasms (MPNs). At Levine lab they discovered the first and still the strongest genetic risk factor for MPNs and revealed the persistence mechanism for JAK2 inhibitors in MPNs. After the years in the USA, Outi returned to the University of Helsinki and joined Academy Professor Lauri A. Aaltonen’s lab as an Academy of Finland Postdoctoral Researcher. In 2014 she received her docentship and an Academy of Finland Research Fellow post, which allowed her to establish her own research lab at the Research Programs Unit, Faculty of Medicine, University of Helsinki

Hematological Genetics lab combines uniquely genetic and clinical expertise 

Since 2016, the Hematological Genetics lab has been led by two principal investigators: Outi and a hematologist, docent Ulla Wartiovaara-Kautto. They met by a coincidence and very fast realized their common interest and complementary expertise in the inherited genetic factors in hematological diseases. Their current work focuses on germline genetics in hematological diseases e.g., acute leukemias and bone marrow failure (BMF). A major breakthrough was the identification of ERCC6L2 gene causing a novel entity within inherited acute myeloid leukemia (AML). Their current research activities include e.g., deciphering the molecular mechanisms leading to the ERCC6L2 disease and comprehensive unraveling of the landscape of inherited factors in hematological diseases.

“It’s really rewarding to see the field moving forward and work in the lab to understand the disease mechanisms on molecular level in hopes for better treatment options”, Outi says. “We are extremely grateful for every single sample the patients have donated to us, whether directly or through the Hematological Biobank FHRB. It’s crucial especially when doing research in rare diseases such as ERCC6L2 disease, as well as hematological diseases in general”, she adds.


ERCC6L2 disease was included in the Finnish Disease Heritage and attracts worldwide interest

In 2023, Outi and Ulla together with their team published a landmark paper describing the clinical picture resulting from inherited biallelic defects in ERCC6L2, most commonly found in Finns. The ERCC6L2 disease has now been included in the Finnish Disease Heritage as the first cancer syndrome. In the respective paper, they established the three phases of the disease: bone marrow failure, accelerating phase, and myelodysplastic syndrome (MDS)/AML. They also found out that acquired TP53 mutations in the blood cells are a hallmark of ERCC6L2 disease, and that they appear already at the BMF phase. Currently, the only life-saving treatment is a hematopoietic stem cell transplantation, which should be performed before the malignant disease develops, for a better outcome. “We have been contacted by several hematologists around the world for advice on treating the ERCC6L2 patients. It feels really comforting that we can contribute to the care of the patients”, Outi says.

Understanding the clinical features also helps the work in the lab to, for example, classify samples in different groups and find factors that drive the development of a malignancy. The ultimate goal, of course, is to find a drug to interfere with the process. 

Friends, TV shows and dachshund counterbalance work

Apart from her research work, Outi likes to spend time with her friends, and watch TV shows. She also, very recently, got a miniature dachshund puppy, Clara, which keeps her (very) busy.

Outi Kilpivaara's research focuses on germline genetics in hematological diseases. Recently, she and her team described clinical picture of ERCC6L2 disease. The disease is now included in the Finnish Disease Heritage.