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Shining the spotlight on rare disease research

Photo of someone at a lab bench holding a petri dish.

​​​​​​​Did you know that about 70% of rare diseases begin in childhood? How about that 1 in 5 cancers are considered a rare disease? Or that nearly three-quarters of all rare diseases are genetic diseases? With more than 6,000 rare diseases known to impact the lives of an estimated 300 million people around the world – rare diseases are all too common.

Limited knowledge of these diseases often results in delayed diagnoses and a scarcity of treatment options, making research a priority for those living with a rare disease. This is where stem cell research can make a difference.

Stem cells and their ability to generate specialized cells - blood cells, brain cells, bone cells, and so on - present a world of possibilities for studying and treating rare diseases. Their unique capabilities can help overcome the limited scientific knowledge and information available when it comes to a rare disease. They can be used to create disease models which can help researchers better understand how diseases and conditions develop or be grown for use in transplants and regenerative medicines, or even to test new drugs for safety and effectiveness.

Building off efforts made in recent decades to improve our understanding of rare diseases, researchers at Lund Stem Cell Center are using state-of-the-art technologies and tools to deepen our understanding of how several rare diseases occur and develop new therapies and treatments for patients.

Rare disease research in the spotlight

Below we shine a light on some of the ongoing rare disease research happening at Lund Stem Cell Center:

X-linked Dystonia Parkinsonism (XDP)

XDP is a rare genetic disease that affects the human brain, causing several neurological symptoms. It is caused by a transposable element insertion in an important gene known as TAF1.

“Over the last few million years of evolution, transposable elements (TEs), also called ‘jumping genes’ entered our genome. As their nickname suggests, these elements can jump from one location of the genome to another, amplifying themselves within it. Despite the increasing knowledge implicating TEs in human diseases like XDP, we have barely begun to understand how these elements affect the human brain," explains Vivien Horvath, a postdoctoral researcher within the Laboratory of Molecular Neurogenetics.

"We are using a new technique that allows us to use pieces of brain tissue from people with XDP and separate them into individual cells. By subjecting these cells to different experimental techniques we hope to uncover the diverse mechanisms that keep TEs at bay, and to investigate how these mechanisms affect diseases in addition to normal brain development and function,” shes continues. 

Learn more about Laboratory of Molecular Neurogenetics' ongoing research

Alexander’s Disease (AxD) 

AxD is a very rare, usually progressive and fatal, neurological disorder. It is part of a group of disorders known as leukodystrophies which are caused by defects in oligodendrocytes, a type of brain cell that makes up a large part of the brain's white matter, as well as defects in astrocytes, cells that regulate metabolism in the brain.

“In our project, we are working to develop disease models of AxD to study how astrocytes contribute to the progressive breakdown of the brain’s white matter that is characteristic of the disease. In the first part, we use the genetic scissors known as CRISPR, to repair the genome in two stem cell lines that we have produced from two Swedish patients," says Oskar Zetterdahl, a doctoral student within the Stem Cells, Aging, and Neurodegeneration Research Group.

 "By comparing the diseased and repaired cells, we can then investigate the potentially toxic effect of AxD astrocytes on neurons and oligodendrocytes. Our goal is to deepen the understanding of the contributing role of astrocytes in leukodystrophies like AxD and provide insights that can be used for the development of new treatments,” he notes. 

Learn more the group's research with the European Joint Programme on Rare Diseases

Idiopathic Pulmonary Fibrosis (IPF)

IPF is a rare lung disease, characterized by the progressive formation of scar tissue within the lungs. While its cause remains unknown, the prevalence and incidence of IPF are increasing worldwide. 

“We set out to develop the tools needed to explore the role of two transcriptional factors or proteins, YAP and TAZ, in the healthy and fibrotic lung epithelium. The goal was to determine what contributes to the development of IPF, whether this can be targeted, and if so, what the best ways to do so are," highlights Hani Alsafadi, a doctoral student within the Lung Cell & Molecular Biology and Bioengineering Research Group.

"Using state-of-the-art techniques, we were able to identify some of the roles of these molecules in the different types of healthy and diseased lung cells. Our findings set the foundation for identifying exact targeting mechanisms that can be used in the development of new therapeutics for IPF in the future,” he states. 

Learn more about the research conducted by Hani and the Lung Cell & Molecular Biology and Bioengineering Research Group

Diamond-Blackfan Anemia

Diamond-Blackfan Anemia is a rare blood disorder caused by a mutated gene that leads to a lack of the building blocks needed to form the cell’s protein factories (known as ribosomes). This causes the bone marrow to not produce enough red blood cells, meaning that repeated blood transfusions are needed. However, regular transfusions carry a risk of iron poisoning, a side effect that can result in death.

For the past 20 years, Johan Flygare, researcher and Assistant Professor, has been working together with the research group of Stefan Karlsson to develop a curative gene therapy for this disease. 

“If we succeed, patients will be able to receive treatment that will allow their own blood stem cells to leave the bone marrow. We collect them and make sure to insert a healthy copy of the mutated gene into the cells which are then returned to the patient. We hope to start clinical trials in 2023,” says Johan Flygare, leader of the Stem Cells to Red Blood Cells Research Group.

Learn more about this project and the work at Lund Stem Cell Center to develop other advanced treatments of the future

About Rare Disease Day:

Rare Disease Day is an annual, International Day of Observance celebrated on the last day of February. Its main purpose is to raise awareness about rare diseases and the challenges faced by those affected by them. It was first introduced in 2008 by the European Organisation for Rare Diseases (EURORDIS) and is now celebrated in over 80 countries around the world.

Learn more about Rare Disease Day

Rare diseases under study at Lund Stem Cell Center:

  • Alexander’s Disease
  • Acute Myeloid Leukemia
  • Acute Respiratory Distress Syndrome
  • Acute Lymphoblastic Leukemia
  • Cystic Fibrosis
  • Diamond-BlackFan Anemia
  • Glioblastoma
  • Huntington’s Disease
  • X-linked dystonia-parkinsonism
  • Monosomy 7
  • Multiple Myeloma
  • Multiple System Atrophy
  • Neural Crest Tumors
  • Neuroblastoma
  • Pancreatic Cancer