Gene Therapy for Eye Disease
... • For our gene therapy clinical trials, the surgical procedure
involves injecting the virus under the retina, producing a
temporary retinal detachment
• Recovery time is usually rapid and it is often possible to go
home the same day
• Quality of sight is reduced temporarily until recovery is
Retinitis Pigmentosa MR.MANAVIAT YAZD university of medical
... A careful family history will help to determine the mode of
The diagnosis can usually be made clinically. Electrophysiologic tests
are also useful in diagnosis, particularly in early disease where there
may be few clinical signs.
Recent work on mapping the genetic loci for the con ...
Gene Therapy and Viral Vector
... The AAV genome is built of single-stranded deoxyribonucleic acid
(ssDNA), either positive- or negative-sensed, which is about 4.7 kilobase
long. The genome comprises inverted terminal repeats (ITRs) at both ends
of the DNA strand, and two open reading frames (ORFs): rep and cap (see
figure 1). The f ...
The Foundation Fighting Blindness Announces Nearly $3 Million in
... mutations, developing cross-cutting gene therapies and advancing potential treatments for dry age-related macular
degeneration, among other projects. Another $800,000 was awarded to two research efforts at the University of
California, Berkley, focused on optogenetic approaches to treat blinding inh ...
Histamine in the development and maintenance of
... close relationship of photoreceptors with the underlying Retinal Pigment Epithelium,
which is crucial for their survival. The OLM contains specialized adherens junctions
between photoreceptors and adjacent Müller cells, which contain multiprotein
complexes (containing ZO-1, -catenin, crumbs). Mutat ...
Gene Therapy Clinical Studies for Achromatopsia (ACHM)
... Your doctor may order a blood or saliva test
to find out if you have an IRD. Genetic testing
may be provided for individuals with a family
history of IRDs who have not received a
An inherited retinal disorder, sometimes called confirmation of specific genetic changes.
an IRD, is a condition that is ...
Gene Therapy - mvhs
... • A way to treat or cure diseases by inserting
the “correct” DNA into the cell.
• Most promising for diseases caused by a
single gene defect (ex. hemophilia)
• Still in the experimental stages
• Clinical trials have been done on humans
CAHB Newsletter June 2005 Volume 2 Number 3
... can only reproduce when in contact with the adenovirus. Its
long-term stable transduction capabilities make it a very
good vector. Experiments have shown that serotypes 8 and 9
of the AAV have yielded results of close to a 100% in
transduction efficiencies in skeletal muscle, cardiac muscle,
17 02 02 update on ocular program and presentation
Science 9 Unit Test on Reproduction Outline Key Vocabulary
... Where DNA is stored and what it is made up of
How proteins are produced in cells
Types of gene mutations
What is gene therapy?
Checkpoints in the cell cycle
Differences between asexual and sexual
Difference between internal and external fertilization
Proof of Principal, Medical Therapy and Clinical Trials
... • About 4 years ago, Dr. Robin Ali et al. started the first
gene therapy clinical trial supplying a normal copy of
the RPE65 gene to specific patients with LCA. Other
groups soon started similar trials and the patients
seem to be doing well with some restored vision.
• The focus now is on early trea ...
retinitis pigmentosa - Foundation Fighting Blindness
... Retinitis pigmentosa, also known as RP,
refers to a group of inherited diseases
causing retinal degeneration. The
retina is a thin piece of tissue lining
the back of the eye. It converts light
into electrical signals which the brain
interprets as vision. People with RP
experience a gradual decline i ...
Gene therapy of the human retina
Retinal gene therapy holds great promise in treating different forms of non-inherited and inherited blindness.In 2008, three independent research groups reported that patients with the rare genetic retinal disease Leber's Congenital Amaurosis had been successfully treated using gene therapy with adeno-associated virus (AAV). In all three studies, an AAV vector was used to deliver a functional copy of the RPE65 gene, which restored vision in children suffering from LCA. These results were widely seen as a success in the gene therapy field, and have generated excitement and momentum for AAV-mediated applications in retinal disease.In retinal gene therapy, the most widely used vectors for ocular gene delivery are based on adeno-associated virus. The great advantage in using adeno-associated virus for the gene therapy is that it poses minimal immune responses and mediates long-term transgene expression in a variety of retinal cell types. For example tight junctions that form the blood-retina barrier, separate subretinal space from the blood supply, providing protection from microbes and decreasing most immune-mediated damages.