Awardees 2023

The aim of the SFO Stem cells and Regenerative medicine is to support research and infrastructure within the field of stem cells and regenerative medicine. The SFO supports researchers, research programs and infrastructure at the Karolinska Institutet (KI) with or without collaboration with the health care system based on scope, quality, and the potential to strengthen and develop the field.

Research grants

The steering committee for SFO stem cells and regenerative medicine has decided to award 12 grants for 2023 and potentially for 2024, depending on funding availability.
Each grant is 2 MSEK per year.

 

SENIOR

Sten Eirik Jacobsen. Photo: Ulf Sirborn

Sten Eirik Jacobsen

Harnessing the power of T cell immunity to unravel the stem cell dependency of sustained normal and malignant hematopoiesis

 

A platelet-restricted hematopoietic stem cells giving exclusively rise to megakaryocytes and platelets
Figure illustrates a platelet-restricted hematopoietic stem cells giving exclusively rise to megakaryocytes and platelets. Photo: Bengt Mattsson

No studies have addressed the dependency of normal steady-state adult hematopoiesis or hematological malignancies on stem cells, following efficient and selective elimination of the stem cells in vivo. We aim to resolve this issue in mouse models of normal and malignant hematopoiesis through engineering of T cell receptors (TCRs) efficiently and specifically targeting hematopoietic stem cells. While there are no means to address this optimally in humans, the findings in mouse models will have important implications for the human cancer stem cell hypothesis and therapies.

More research is performed in Sten Eirik Jacobsen group at Department of Medicine, Huddinge (MedH) and Department of Cell and Molecular Biology (CMB).

 

Sten Linnarsson. Photo: Johannes Frandsén

Sten Linnarsson

Targeting glioblastoma stem-like cells using engineered lipid nanoparticles

Glioblastoma is thought to arise due to transformation of residual stem cells (hierarchical model) or dedifferentiation of post-mitotic glia (stochastic model); either way, stem-like cells drive the development of tumors. However, despite decades of efforts to develop targeted therapies, overall survival has remained poor. We will develop DNA lipid nanoparticle vectors targeting diverse glioblastoma stem cell states. Lipid nanoparticles are promising for their flexibility of design, simple manufacturing and ability to target different cell types, exemplified by the successful development of mRNA-LNP Covid-19 vaccines.

Photo of a gliablastoma
Photo of a glioblastoma organoid transfected by a DNA LNP vector expressing GFP. Photo: Private

Less work has focused on LNP formulations with DNA payload, which provide an opportunity for longer-term modulation of cellular function compared to mRNA-based LNPs, and for programmability based on regulatory DNA elements.

More research is performed in Sten Linnarsson group.

 

Photo of Gonçalo Castelo-Branco
Gonçalo Castelo-Branco. Photo: Ulf Sirborn

Gonçalo Castelo-Branco

Establishment of regenerative cell statesin multiple sclerosis: identifications of key transcription factors for oligodendrogenesis

Multiple sclerosis (MS) is characterized by an auto-immune attack on oligodendrocyte (OL)-derived myelin. Spontaneous remyelination driven by oligodendrocyte precursor (OPCs) and mature OLs has been described in MS, but eventually fails. We will determine how different OL-lineage cell states are established and identify transcription factors underlying their establishment.

Myelinating and disease-associated oligodendrocyte lineage cell states.
Myelinating and disease-associated oligodendrocyte lineage cell states. Illustration by Amagoia Agirre.

We will perform pool CRISPR-based screenings, combining with single-cell and spatial omics, and assess the effect of these transcription factors on the differentiation/myelination potential of human OLs. This project will unveil new strategies to drive OL lineage to remyelinating states, which might lead to regenerative medicine approaches for MS.

More research is performed in Gonçalo Castelo-Branco group.

 

Photo of Maria Eriksson.
Maria Eriksson. Photo: Private

Maria Eriksson

Vascular regeneration and functional implications from somatic mutations in age-associated vascular disease

We and others have analyzed somatic mutations in human tissues and showed that somatic cells accumulate thousands of mutations during development and aging.

Clonal propagation of vascular smooth muscle cells in the thoracic aorta using confetti reporter mouse.
Clonal propagation of vascular smooth muscle cells in the thoracic aorta using confetti reporter mouse. Photo: Piotr Machtel

While most of the mutations are likely harmless, some either contribute to disease and aging or are directly disease-causative, as in the formation of tumors in cancer. In this study, we will develop models to study clonal expansion of somatic mutations in the arterial wall during aging and disease.

More research is performed in Maria Eriksson group.

 

 

Photo of Kirsty Spalding
Kirsty Spalding. Photo: Stefan Zimmerman

Kirsty Spalding

Cell regeneration in the adult human kidney in health and disease

Chronic kidney disease is estimated to affect more than 10% of the population. With no curative treatments to restore kidney function, clinical efforts have instead focused on slowing the progressive decline into renal failure. The potential for stimulating the regeneration of podocytes – the key cells of the glomerular filtration barrier whose loss is directly correlated with a decline in function – is of immense clinical interest.

Determining cell regeneration in the adult human kidney
Determining cell regeneration in the adult human kidney. Above ground nuclear bomb testing caused large increases in 14C in the atmosphere (left). Radiocarbon dating of podocyte nuclear DNA (right) can determine the birth date, and thus regenerative capacity, of adult human podocytes. Photo: Christine Jones

We will use carbon-14 dating of nuclear DNA to determine the regenerative capacity of podocytes in the adult human kidney and assess whether stimulating endogenous podocyte cell replacement is a viable therapeutic option for kidney disease.

More research is performed in Kirsty Spalding group

 

 

 

JUNIOR

Photo of Ulrika Marklund
Ulrika Marklund. Photo: Ignus Dreyer

Ulrika Marklund

Exploring the regenerating enteric nervous system for applications in restorative therapy of gastrointestinal disease

Neuropathy within the enteric nervous system (ENS) contribute to congenital, degenerative and inflammatory gut disorders that lack satisfactory treatment. Following injury or inflammation, regeneration of both enteric neurons and glia have been observed, yet without that functional deficits are restored.

Photo of the Enteric Nervous System
Immunohistochemistry depicting one of the many neuronal subtypes (red) within the intricate network of enteric neurons (green).

To achieve functional recovery, a balanced neuronal constitution would need to be re-created. We have recently determined general principles of embryonic diversification of enteric neuron subtypes, but the neuron identities emerging during adult neurogenesis remains unknown. In this project we aim to explore the potential and constraints of the regenerating ENS to pave the way for new regenerative strategies for treating neural deficits in the gut.

More research is performed in Ulrika Marklund group

 

Portrait of Simon Elsässer.
Simon Elsässer. Photo: Gonzalo Irigoyen

Simon Elsässer

Epigenetic mechanism of the first human embryonic lineage choices

The first lineage choice made in human embryo development separates trophectoderm (TE) from the inner cell mass (ICM), separating extra- and embryonic cell fates. Upon implantation, TE gives rise to placental tissues while the ICM progresses via the epiblast stage to form the fetus. Together with Fredik Lanner’s group, we have been studying how epiplast identity is specified and maintained in a human embryonic stem cell model.

Image shows how naive pluripotent stem cells provide an insightful model system for early cell fate decisions in the human embryo
Naive pluripotent stem cells provide an insightful model system for early cell fate decisions in the human embryo.

In the project, we will identify and study so-called epigenetic factors that guide cell fate decisions or provide barriers between different lineages in early human development, together orchestrating the ordered development of embryo and extraembryonic support tissues.  

More research is performed in Simon Elsässer group.

 

Photo of Maria Genander.
Maria Genander. Photo: Linda Lindell

Maria Genander

Regionalization of esophageal progenitor cell fate and tumor potential

In many stem cell niches, stem and progenitor cells are tucked away in anatomically distinct locations, enabling exclusive interactions with niche signals that maintain stemness and prevent differentiation. In structurally simple epithelia such as the esophagus, no local stem cell niches have yet been identified.

Illustration of esophageal progenitor fate and regenerative potential
Illustration of esophageal progenitor fate and regenerative potential.

Our work suggest that symmetrically fated progenitor cells are enriched in specific epithelial regions, indicating that local signal environments, or niches, impact progenitor fate and subsequently susceptibility to transformation. Here, we propose to characterize how progenitor cell location impacts esophageal homeostasis and tumor initiation.

More research in performed in Maria Genander group.

 

 

Photo of Joel Nordin
Joel Nordin. Photo: Stefan Zimmerman

Joel Nordin

Development of an in vivo gene editing technology of hematopoietic stem cells to treat X-linked agammaglobulinemia

This project aims to use gene-editing of hematopoietic stem cells (HSCs) to treat an inherited immunodeficiency, X-linked agammaglobulinemia (XLA), at Karolinska University Hospital. XLA patients carry a mutated BTK gene, thereby, lacking a functional BTK. Together with researchers at UCLA and close collaborators at KI, HSCs from XLA patients will be gene-edited by homology-directed, so-called CRISPR methods.

Project figure made by Laura Castro in Joel Nordin research group.
Schematic figure displaying CRISPR-Cas9-AAV6 mediated homology-directed repair of the BTK-gene in XLA patient-derived hematopoietic stem cells (HSCs). Illustration: Laura Castro

Hopefully, this preclinical attempt will restore the expression of normal BTK protein, which is non-functional in XLA patients, and pave the way for a clinical trial. In parallel, the project aims to increase the editing efficiency of HSCs by developing a novel delivery system of Cas9-RNPs (components of CRISPR) to enhance editing efficiency.

KI collaborators: 
Molecular Cell Biology and Gene Therapy Science
Research group - Samir EL Andaloussi

More research is performed in Joel Nordin group.

 

Photo of Vanessa Lundin
Vanessa Lundin. Photo: Private

Vanessa Lundin

Molecular pathogenesis of germline cancer predisposition in hematopoietic stem cells

Myeloid malignancies are clonal disorders of hematopoietic stem cells. We aim to better understand how certain genetic mutations in these cells predispose and lead to development of myeloid neoplasms, such as MDS and AML. In this project, we use patient-derived induced pluripotent stem cells (iPSC) from germline carriers of disease-prone variants. These personalized cell lines provide a unique opportunity to model and study the continuum of myeloid disease in vitro, as iPSCs can be readily differentiated into blood cells but also allow for genetic engineering, functional readouts, and validation of new drug targets.

Project figure_Vanessa lundin
Brightfield images of an iPSC colony and HSPCs, stained with May Grünwald-Giemsa, after in vitro hematopoietic differentiation. Photo: Katharina Kirchhof.

Leveraging state-of-the-art multiomics, we will obtain mechanistic insights into the pathogenesis of hematopoietic stem and progenitor cells (HSPCs) to ultimately identify strategies towards blocking malignant transformation and restoring hematopoietic output in myeloid malignancies. 

More research is performed in Vanessa Lundin group.

 

CLINICAL

Photo of Stephan Mielke
Stephan Mielke. Photo: Private

Stephan Mielke

Towards the first hospital-based treatment platform for sickle cell anemia using gene editing of autologuous blood stem cells

Sickle cell disease (SCD) represents a huge burden to the healthcare system worldwide as curative alternatives are limited to allogeneic stem cell transplantation (SCT). Here, the lack of HLA-matched donors and associated potentially life-threatening alloreactive risks have deprived several patients from this curative option. Recent opportunities with gene editing have raised hope to cure this growing patient group in need. In particular, induction of fetal hemoglobin has been proven to be efficient for treating SCD.

Simplified project overview for sickle cell anemia patients_Stephan Mielke.
CD34+ hematopoietic stem cells will be collected from patients and further genetically modified with CRISPR or Base Editing approaches, aiming to treat the first SCD patient within three years using gene-edited CD34+ autologous hematopoietic stem cell transplantation. Illustration: Meisam Naeimi Kararoudi

Today, no patient in Sweden has access to gene therapy and sky-rocketing costs make industry-driven manufacturing unlikely in a foreseeable future. We are planning the development of Sweden’s first hospital-based gene editing platform using CRISPR-Cas9 and Base Editing methodologies with the goal to treat the first patient within the three years with gene-edited CD34+ selected autologous SCT.

More research is performed in Stephan Mielke group.

 

 

Photo of Johanna Ungerstedt
Johanna Ungerstedt. Photo: Stefan Zimmerman

Johanna Ungerstedt

Systemic mastocytosis: deciphering the cellular origin of disease and establishing CCL23 as a diagnostic and prognostic biomarker

Most systemic mastocytosis (SM) patients carry the driver KIT D816V mutation. The majority will have a normal life expectancy however around 10% have a malignant disease with short overall survival. The cellular origin of disease, and what factors determine the clinical fate, are unknown. In addition, there is a lack of disease biomarkers.

Systemic mastocytosis (SM) and prognostic markers of disease_Johanna Ungerstedt
Objectives: 1) investigate the chemokine CCL23 as a diagnostic screening marker and 2) as prognostic marker of disease severity, based on our finding that indolent SM (SM) patients have higher CCL23 plasma levels than healthy controls (HC) and that advanced SM (AdvSM) patients have even further increased levels. 3) determine whether the cell of origin of the SM disease driving KIT D816V mutation determines the clinical disease course and prognosis.

We will establish CCL23 as diagnostic and prognostic disease biomarker and test our hypothesis that the cell of origin of the KIT D816V mutation (stem cell or progenitor) determines the clinical disease course.

Our studies will unravel the cellular origin of SM, establish a new biomarker enabling earlier treatment initiation, improving patient quality of life.

More research is performed in Johanna Ungerstedt group.

 

Content reviewer:
25-08-2023