We have donated over
to research so far!
Latest Updates
Research Highlights
With the support of Vision of Children, Dr. Karl Wahlin of the Shiley Eye Institute at UC San Diego is leading a project that hopes to reverse blindness caused by a variety of inherited retinal disorders, including Ocular Albinism type 1 (OAl).
Latest Updates
Research Highlights
For over 30 years, The Vision of Children Foundation has been at the forefront of unlocking the secrets to cures for genetic eye disorders. Currently, we are collaborating with Dr. Karl Wahlin, Ph.D. at the Shiley Eye Institute at UC San Diego Health. Dr. Wahlin is leading VOC’s “When Vision Becomes Reality” research project.
His approach taps into a cellular blueprint that enables many species (e.g., fish and amphibians) to repair damaged retinas which does not readily occur in humans.
To achieve this, Dr. Wahlin’s research is focused on converting existing support cells within the retina into new photoreceptors to compensate for reduced photoreceptor function.
Much like a light switch, Wahlin and colleagues developed a genetic switch that activates or turns “on” gene expression by administering a harmless drug to the targeted gene or genes. Leveraging this gene switch, the Wahlin Lab accomplished a remarkable milestone in reprogramming induced pluripotent stem cells, leading to the generation of new neurons, including essential retinal photoreceptor cells responsible for converting light into electrical signals. This reprogramming occurred at a high rate of efficiency; a record pace not found in any published report of human cell conversion.
Thus, the ability to generate new visual cells means that we are one step closer to treating these and a variety of other human eye disorders, including much more common visual disorders like age related macular degeneration (AMD).
Taking this work to the next phase, Dr. Wahlin’s team is now growing 3D human retina organoids to develop and test a new gene therapy designed to safely deliver the photoreceptor-generating genetic switches directly to existing support cells within the human eye.
Since the new photoreceptors produced would still contain DNA with genetic defects that lead to vision loss, correcting the DNA is another important avenue needed to develop effective therapies for conditions like OA. Fortunately, a recent breakthrough in gene editing, called ‘Prime Editing,’ allows for precise genetic repairs in living cells. Previous gene-editing approaches were not capable of editing mature neurons; thus, this new approach is a major technological advancement.
As we move forward, the combination of these cutting-edge techniques and the continued dedication of our researchers holds the potential to transform the treatment of genetic eye disorders. With each milestone, we draw closer to the ultimate goal of restoring vision and improving the quality of life for those affected by these conditions.
The Vision of Children Foundation remains committed to pioneering these advancements, confident that our efforts will one day lead to a brighter future for individuals with vision loss.
To read the full research, download it here.
WHAT WE’VE UNCOVERED
Research Results
Over the past three decades, VOC-Sponsored Researchers have:
Identified the gene mutation responsible for ocular albinism type 1 (OA1), an X-linked recessive disorder in which the retinal pigment epithelium lacks pigment, while the hair and skin appear normal.
Developed the first genetic test for OA, allowing for prenatal diagnosis and carrier screening.
Created an OA1 mouse model with many characteristics similar to those in human OA1.
Determined the biochemical features of the OA1 protein and its involvement in melanogenesis (the production of melanin, which gives color to skin, hair and the iris).
Studied the use of stem cells to regenerate damaged eye tissue in mice.
Demonstrated the efficacy of gene therapy for inherited eye diseases.
Efficiently corrected the genetic mutation responsible for OA in induced pluripotent stem cells retrieved from an OA1 patient.