Genetically Modified Stem Cells for Personalized Therapy of Single Gene Disorders

This technology is directed to individualized therapies of single gene disorders by introducing a patient's own genetically modified adult stem cells to the damaged tissue. Diseases arising from single gene disorders affect approximately 1% of the human population. Unlike most current treatments for such diseases, which are non-specific and symptom-based, this technology specifically addresses the underlying pathology of the disorder.

Many single gene diseases are accompanied by tissue damage and inflammation. This technology exploits the inflammatory response, which includes homing of mesenchymal stem cells to the side of damage, for therapeutic purposes. The inventors have genetically modified adult stem cells to produce silencing RNA specific to the defective protein in the damaged tissue. The silencing RNA can inhibit the source of the pathology and promote the growth and differentiation of genetically modified stem cells adjacent to the damaged tissue which can support the tissue healing process. Additionally, the risk of developing Graft Versus Host Disease is eliminated by utilizing the patient's own stem cells.

Proof of concept has been demonstrated in the vascular type of the Ehlers-Danlos Syndrome (VEDS). Using tissues isolated from VEDS patients, siRNA was shown to correct the mutational defect. The siRNA not only inhibited the production of the mutant protein but also restored the normal, non-pathological structure of the wild-type protein in the tissue.

This technology may be particularly applicable to patients with mutations in structural proteins of the extracellular matrix, as presented in diseases such as osteogenesis imperfecta, Marfan syndrome, and Ehlers-Danlos syndrome (EDS).

Potential Commercial Applications: Competitive Advantages:
Therapeutic for diseases arising from single gene disorders. 
  • Specific to the underlying disease unlike most current treatments.
  • Therapeutic cells are recruited to the specific site of damage.
  • Subsequent differentiation and localization of stem cells is therapeutic to the damaged tissue.

Development Stage:
Pre-clinical; however, patients with vascular type of the Ehlers-Danlos syndrome (VEDS) are being recruited for observational studies.


Wilfried Briest (NIA)  ➽ more inventions...

Mark Talan (NIA)  ➽ more inventions...

Intellectual Property:
US Application No. 61/233,537
PCT Application No. PCT/US2010/045128

Licensing Contact:
Admin. Licensing Specialist (ALS),

OTT Reference No: E-171-2008/0
Updated: Jan 22, 2010