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).