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Genetic variation influencing blood cell formation and blood cancer risk in humans

Nilsson Group

Our Research

The Nilsson lab focuses on how inborn genetic variation influences blood cell formation and blood cancer risk in humans.

In a first line of research, we study genetic predisposition for multiple myeloma (MM). Studies going back to the 1920s support familial aggregation of MM. Recently, we and others discovered sequence variants influencing MM risk, including common variants at 24 loci and rare, high-penetrant variants in the tumor suppressor gene DIS3. We are now carrying out large-scale genetic studies to deepen our understanding of MM predisposition. We also seek to develop clinically applicable methods to identify individuals with high risk, and thereby enable early intervention, which is emerging as a real option for MM.

In a second line, we use natural genetic variation to find genes that regulate hematopoietic stem and progenitor cells (HSPC) in humans. Understanding how HSPCs are regulated is of central importance for several areas in clinical hematology, including stem cell transplantation and the treatment of leukemias. Yet, most of what we know comes from studies in vitro and in mice, and little is known about the situation in vivo in humans. To address this, we have created a unique, high-throughput platform that enables identification of HSPC regulators via genome-wide association studies where circulating HSPC levels in thousands of individuals are tested for correlation with millions of genetic markers. Thus, instead of inserting artificial mutations in mice, we read out ripples of the perturbation experiments that nature performed during evolution.

The Nilsson lab brings together individuals with diverse scientific backgrounds (clinical, experimental and computational). Our projects are interdisciplinary, clinically integrated, and international. They are facilitated by collaborations across the Nordic region and beyond, particularly deCODE Genetics (Iceland) and the Broad Institute (Cambridge, MA).

For more information, please see


  • To discover DNA sequence variants and genes that influence blood cell formation and blood cancer risk in humans.
  • To characterize identified variants and genes functionally.
  • To translate our discoveries to clinical use, for example to identify individuals at high risk of blood malignancies and to improve stem cell harvesting and transplantation.


Our research aims to improve our abilities to treat, and prevent, blood cell malignancies.

Understanding MM predisposition can enable prevention in individuals with high risk. Currently, clinical trials are testing the value of treating early (“smoldering”) MM and MGUS to prevent progression to MM. If such trials yield positive results, and predictive markers can be found, both identification of individuals with high genetic risk and early intervention can become a reality. Potentially, individuals with high risk can be monitored for M-protein and recent, relatively nontoxic drugs (e.g., therapeutic antibodies) could be used to eradicate an emerging plasma cell clone at an early stage.

Uncovering novel HSPC regulators could have major impact on several areas in clinical hematology: Firstly, in stem cell transplantation, the level of CD34+ cell (representing HSPC in blood) predicts successful harvest by leukapheresis, and our research can lead to improved stem cell harvesting. Secondly, finding HSPC regulators can lead to new ways to accelerate bone marrow regeneration after chemotherapy-induced cytopenia. Thirdly, several blood malignancies are driven by abnormal HSPC activity, and our research could enable development of novel therapies.

List of Team Nilsson's publications


(name linked to profile in Lund University research portal)

Björn Nilsson

Principal Investigator, Bjorn [dot] Nilsson [at] med [dot] lu [dot] se (Bjorn[dot]Nilsson[at]med[dot]lu[dot]se)

Aizkoa Lopez de Lapuente Portilla

Assistant Researcher, Aitzkoa [dot] Lopez_de_Lapuente_Portilla [at] med [dot] lu [dot] se (Aitzkoa[dot]Lopez_de_Lapuente_Portilla[at]med[dot]lu[dot]se)

Caterina Cafaro

Research Engineer, Caterina [dot] Cafaro [at] med [dot] lu [dot] se (Caterina[dot]Cafaro[at]med[dot]lu[dot]se)

Maroulio Pertesi

Research Engineer, Maroulio [dot] Pertesi [at] med [dot] lu [dot] se (Maroulio[dot]Pertesi[at]med[dot]lu[dot]se)

Ram Ajore

Assistant Researcher, Ram [dot] Ajore [at] med [dot] lu [dot] se (Ram[dot]Ajore[at]med[dot]lu[dot]se)

Abhishek Niroula

Postdoc, Abhishek [dot] Niroula [at] med [dot] lu [dot] se (Abhishek[dot]Niroula[at]med[dot]lu[dot]se)

Malte Thodberg

Postdoc, Malte [dot] Thodberg [at] med [dot] lu [dot] se (Malte[dot]Thodberg[at]med[dot]lu[dot]se)

Zain Ali

PhD student, Zain [dot] Ali [at] med [dot] lu [dot] se (Zain[dot]Ali[at]med[dot]lu[dot]se)

Laura Duran Lozano

PhD student, Laura [dot] Duran_Lozano [at] med [dot] lu [dot] se (Laura[dot]Duran_Lozano[at]med[dot]lu[dot]se)

Ludvig Ekdahl

PhD student, Ludvig [dot] Ekdahl [at] med [dot] lu [dot] se (Ludvig[dot]Ekdahl[at]med[dot]lu[dot]se)

Yuwen Xie

PhD student, yuwen [dot] xie [at] med [dot] lu [dot] se (yuwen[dot]xie[at]med[dot]lu[dot]se)

Jenny Mattsson

PhD student, Jenny [dot] Mattsson [at] med [dot] lu [dot] se (Jenny[dot]Mattsson[at]med[dot]lu[dot]se)

Fredrik Junghus

Master student, Fredrik [dot] Junghus [dot] 1843 [at] student [dot] lu [dot] se (Fredrik[dot]Junghus[dot]1843[at]student[dot]lu[dot]se)

Märta Nilsson

Web master,

Björn Nilsson

Principal Investigator Björn Nilsson

Principal Investigator

Division of Hematology and Transfusion Medicine
Department of Laboratory Medicine
BMC B13, Lund University
221 84 Lund, Sweden

Mail: Bjorn [dot] Nilsson [at] med [dot] lu [dot] se (Bjorn[dot]Nilsson[at]med[dot]lu[dot]se)

Profile in Lund University research portal

    Current Major Grants:

    • European Research Council
    • Knut and Alice Wallenberg Foundation
    • Stiftelsen för Strategisk Forskning
    • Swedish Research Council
    • Cancerfonden
    • Barncancerfonden
    • Nordic Cancer Union
    • Stiftelsen Borås Forsknings- och Utvecklingsfond mot Cancer


    • Lund Stem Cell Center
    • StemTherapy
    • LUCC
    • Department of Laboratory Medicine
    • Division of Hematology and Transfusion Medicine
    • Region Skåne
    • Broad Institute
    • FOCUS-MM