Stem cells: Advancing treatment for rare genetic diseases

The world of medicine is constantly evolving, and one of the most exciting developments in recent years is the use of stem cells to help treat rare genetic diseases. Stem cells, including the types found in umbilical cord blood, offer new hope for patients with conditions that have long been deemed untreatable. This could make a significant impact in the realm of certain rare diseases.

Understanding newborn stem cells

Various types of stem cells, including newborn stem cells, are either currently being used or are being investigated in how they can help treat certain rare genetic disorders. Newborn stem cells include those derived from the umbilical cord blood and cord tissue collected immediately after birth. Newborn stem cells have unique advantages over adult sources of stem cells, including improved immunological flexibility as well as limited exposure to harmful environmental factors.^1,2 Cryopreservation of stem cells at birth "stops the clock” and preserves their unique properties for potential future use.³

The two primary types of newborn stem cells are:

- Hematopoietic Stem Cells (HSCs): Found in umbilical cord blood as well as other sources, these stem cells can transform into different types of blood cells including immune system cells. HSCs from cord blood have an established use in a procedure called a stem cell transplant⁴ and are being investigated for additional therapeutic applications in regenerative medicine.⁵

- Mesenchymal Stem Cells (MSCs): Mesenchymal stem cells secrete factors that can stimulate cell survival, cell repair, cell growth, and destruction of damaged cells and are widely researched in the field of regenerative medicine.^6,7

Hope for use in rare genetic diseases

Rare genetic diseases, often characterized by mutations in a single gene, can be challenging to treat due to their specificity and the limited treatment options available. Stem cells, including the types found in cord blood and cord tissue, are emerging as promising tools in this field. Here are some of the top reasons:

Top 3 things to know about why stem cells are impacting genetic disorder treatments

1. Uses in stem cell transplants: HSCs from cord blood may be used in a stem cell transplant, which is a procedure that aims to rebuild healthy blood and immune system in individuals with certain conditions. Stem cell transplants may be a treatment option for certain genetic disorders involving the blood and immune system1 and in some cases may be curative.⁸

2. Potential for use in regenerative medicine: Regenerative medicine is an area of medicine that aims to replace or regenerate cells, tissues or organs to help restore function to the body. Cell-based therapies using HSCs and MSCs from various sources show promise as tools to treat a wide range of conditions.⁹ For example, MSCs have shown early potential in a possible treatment of conditions like osteogenesis imperfecta (OI), a genetic disorder characterized by brittle bones.¹⁰ Ongoing research continues to assess the safety and feasibility of this treatment option for patients with OI.¹¹

3. Potential applications in gene therapy: HSCs, such as those found in cord blood, offer a promising platform for gene therapy, a technique that involves correcting defective genes responsible for genetic disorders. Researchers are exploring ways to use these stem cells to deliver healthy genes to replace or repair faulty ones, providing a potential cure for genetic conditions.¹²

Transforming care for rare diseases

The impact of stem cells on the treatment of rare genetic diseases is profound. Here are a few examples of how these cells are already making a difference:

- Sickle Cell Disease: HSCs from umbilical cord blood or other sources can be used to help treat sickle cell disease, a genetic disorder that affects red blood cells.¹³ Stem cell transplants can help restore healthy blood cell production, providing a potential cure for affected individuals.⁸

- Cystic Fibrosis: Studies have investigated how MSCs can be used to repair damaged lung tissues in patients with cystic fibrosis, a genetic condition that leads to severe respiratory problems. The regenerative properties of these stem cells may potentially help improve pulmonary inflammation.¹⁴

- Fanconi anemia: The use of gene therapy with HSCs is currently being explored as a possible treatment for this genetic disorder which causes bone marrow failure. By introducing a “normal” copy of the gene responsible for this condition, researchers aim to assess whether the approach may help prevent this complication.¹²

Looking ahead

The future of stem cells in treating rare genetic diseases shows exciting potential. We hope to see more breakthroughs that offer hope to individuals and families affected by these challenging conditions. The potential for stem cells to not only treat but potentially cure rare genetic diseases is a beacon of hope for many.

In conclusion, stem cells, including those from cord blood, represent what may become a revolutionary tool in the fight against rare genetic diseases. Their unique properties and potential applications are paving the way for new treatments and therapies that could transform the lives of those affected by these conditions. As science and technology continue to evolve, the impact of stem cells on rare diseases will hopefully continue to expand, offering new hope and possibilities for patients worldwide.

For more insights into how newborn stem cells are advancing treatments for rare genetic conditions, stay tuned to the latest updates from leading research institutions and healthcare providers.