Explore Research Innovation at the David Geffen School of Medicine
Donald Kohn, MDDirector, UCLA Human Gene Medicine Program
Dr. Kohn develops techniques to correct genetic mutations that cause certain blood diseases. His gene therapy has cured nearly 50 babies suffering from adenosine deaminase deficient severe combined immunodeficiency (ADA-SCID), often called bubble baby disease.
The success of the ADA-SCID treatment signifies a translational victory for gene therapy, inspiring hope for its application in other diseases.
Through several clinical trials, Dr. Kohn has used gene therapy to cure nearly 50 babies born with virtually no immune system. By incorporating a viral vector gene therapy delivery system and an autologous bone marrow transplant, the treatment is able to fix a mutation in the ADA gene and restore normal immune function in the babies.
The treatment includes extracting blood stem cells—which mature into immune-system cells—from a baby's own bone marrow. The normal ADA gene is then added to the blood stem cells in the lab using γ-retrovirus vectors with replicating power that accelerates the transfer of corrected genetic information.
Combined with the replicating viral vector, the genetically altered blood stem cells form new, functional immune systems in the babies. Read more in Clinical Efficacy of Gene-Modified Stem Cells in Adenosine Deaminase–Deficient Immunodeficiency, published in the Journal of Clinical Investigation.
The methodologies of Dr. Kohn's cure for ADA-SCID hold promise for nearly all blood disorders caused by genetic mutations.
If gene therapy can cure bubble baby disease, what other blood disorders might it correct?
Dr. Kohn’s current clinical trials aim to discover cures for sickle cell disease and X-Linked Chronic Granulomatous Disease (X-Linked CGD).
Photo from the UCLA Broad Stem Cell Center
Sickle Cell Disease
One of the most commonly inherited genetic blood disorders in the United States, sickle cell disease lacks effective treatment options. A mutation in the beta-globin gene leads to sickle-shaped red blood cells that don’t pass through blood vessels easily; this results in less oxygen distribution throughout the body and to vital organs. An approved gene therapy could fundamentally change the lives of sickle cell patients suffering from anemia, acute pain, and frequent hospitalization.
The California Institute for Regenerative Medicine is supporting Dr. Kohn’s Phase I clinical trial to optimize a gene therapy for sickle cell disease with a $7.9 million grant.
X-Linked Chronic Granulomatous Disease (X-Linked CGD)
X-Linked CGD is a complex disease characterized by multiple genetic mutations. The mutations stifle the immune system, inhibiting white blood cells from killing bacteria, fungi, and other threats. X-Linked CGD patients face inflammation, frequent infection, and sometimes, early death.
The California Institute for Regenerative Medicine is supporting Dr. Kohn’s clinical trial to test a gene therapy for X-Linked CGD.
The word “cure” is important to Dr. Kohn.
He hopes to improve and extend patients' lives with gene therapies that do not just treat, but cure, diseases at their genetic origins. Searching for these cures drives Dr. Kohn to conduct trials that reveal novel gene-correcting techniques and change the way we heal genetic blood disorders.
Help Dr. Kohn cure more patients by supporting immunology research >
UCLA Broad Stem Cell Research Center