View source for 18255951. TREATMENT OF CONGENITAL STATIONARY NIGHT BLINDNESS USING GENE THERAPY simplified abstract (CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE)

=TREATMENT OF CONGENITAL STATIONARY NIGHT BLINDNESS USING GENE THERAPY=


==Organization Name==

[[:Category:CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE|CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE]]


[[Category:CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE]]

==Inventor(s)==

[[:Category:Christina Zeitz of Paris (FR)|Christina Zeitz of Paris (FR)]][[Category:Christina Zeitz of Paris (FR)]]

[[:Category:Deniz Dalkara of Paris (FR)|Deniz Dalkara of Paris (FR)]][[Category:Deniz Dalkara of Paris (FR)]]

[[:Category:Juliette Varin of Paris (FR)|Juliette Varin of Paris (FR)]][[Category:Juliette Varin of Paris (FR)]]

[[:Category:Isabelle Audo of Paris (FR)|Isabelle Audo of Paris (FR)]][[Category:Isabelle Audo of Paris (FR)]]

[[:Category:Serge Picaud of Paris (FR)|Serge Picaud of Paris (FR)]][[Category:Serge Picaud of Paris (FR)]]

[[:Category:José-Alain Sahel of Paris (FR)|José-Alain Sahel of Paris (FR)]][[Category:José-Alain Sahel of Paris (FR)]]

==TREATMENT OF CONGENITAL STATIONARY NIGHT BLINDNESS USING GENE THERAPY - A simplified explanation of the abstract==


This abstract first appeared for US patent application 18255951 titled 'TREATMENT OF CONGENITAL STATIONARY NIGHT BLINDNESS USING GENE THERAPY

==Simplified Explanation==

The present invention involves an expression cassette that allows for the expression of a functional LRIT3 protein in mammal eyes. This cassette is inserted into an expression vector, preferably an adeno-associated virus (AAV). Additionally, the invention includes a recombinant AAV vector carrying a nucleic acid sequence encoding a normal LRIT3 gene or fragment under the control of regulatory sequences that express the gene product in ocular cells. A pharmaceutical composition comprising this recombinant AAV vector can be used for the treatment of congenital stationary night blindness.

* Expression cassette for LRIT3 protein expression in mammal eyes
* Inserted in an AAV vector
* Recombinant AAV vector carrying LRIT3 gene for ocular cell expression
* Treatment of congenital stationary night blindness

== Potential Applications ==
The technology can be applied in gene therapy for the treatment of congenital stationary night blindness.

== Problems Solved ==
This technology addresses the issue of impaired night vision in individuals with congenital stationary night blindness.

== Benefits ==
- Improved vision in low light conditions
- Potential for enhanced quality of life for affected individuals

== Potential Commercial Applications ==
- Gene therapy for ocular disorders
- Development of targeted treatments for genetic eye conditions

== Possible Prior Art ==
Prior research may exist on gene therapy for ocular disorders or the use of AAV vectors for gene delivery in the eye.

== Unanswered Questions ==

=== How effective is the treatment in the long term? ===
The article does not provide information on the long-term effectiveness of the gene therapy treatment for congenital stationary night blindness.

=== Are there any potential side effects of using AAV vectors for ocular gene therapy? ===
The potential risks or side effects associated with the use of AAV vectors for gene delivery in the eye are not discussed in the article.


==Original Abstract Submitted==

The present invention relates to an expression cassette allowing expression of a functional LRIT3 protein in mammal eyes; said expression cassette is inserted in an expression vector, preferably an adeno-associated virus (AAV); accordingly, the present invention further relates to a recombinant adeno-associated virus (AAV) vector carrying a nucleic acid sequence encoding a normal LRIT3 gene, or fragment thereof, under the control of regulatory sequences which express the product of the gene in the ocular cells, a pharmaceutically acceptable composition comprising such a recombinant AAV vector and to its use for the treatment of congenital stationary night blindness



[[Category:C07K14/705]]
[[Category:A61K48/00]]
[[Category:A61P27/02]]
[[Category:C12N15/86]]