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Videos de Conceptos Relacionados

Gene Therapy00:59

Gene Therapy

27.7K
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
27.7K
Group Therapy01:26

Group Therapy

460
Group therapy is a sociocultural approach to psychological treatment, where individuals with shared psychological challenges come together under the guidance of a mental health professional. This therapeutic modality offers unique opportunities for individuals to connect, share, and grow within the context of a supportive group. By fostering mutual understanding and collaboration, group therapy can address a range of psychological concerns effectively, often complementing or surpassing the...
460
Gene Flow02:39

Gene Flow

38.1K
Gene flow is the transfer of genes among populations, resulting from either the dispersal of gametes or from the migration of individuals.
38.1K
Gene Conversion02:08

Gene Conversion

10.7K
Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
10.7K
Gene Families01:57

Gene Families

10.0K
Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
10.0K
What is Gene Expression?01:42

What is Gene Expression?

197.1K
Overview
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is made up of nucleotides and proteins consist of amino...
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Aberrant retinal structure and vasculature in mouse models of dominant retinopathies caused by CRX homeodomain mutations.

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Video Experimental Relacionado

Updated: Feb 12, 2026

Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research
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Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research

Published on: November 2, 2018

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Terapia génica para la degeneración de la retina

Rajendra S Apte1

  • 1Washington University School of Medicine, 660 South Euclid Avenue, Box 8096, St. Louis, MO 63110, USA.

Cell
|March 24, 2018
PubMed
Resumen

La terapia génica con un vector adenoviral suministra la proteína RPE65 normal a las células de la retina. Este tratamiento restaura el ciclo visual y la visión en pacientes con degeneraciones retinianas hereditarias causadas por mutaciones en el gen RPE65.

Área de la Ciencia:

  • Oftalmología
  • La genética
  • Biología molecular

Sus antecedentes:

  • Las degeneraciones retinianas hereditarias (IRD) a menudo son causadas por mutaciones bialélicas en el gen RPE65.
  • Estas mutaciones interrumpen el ciclo visual, lo que lleva a la pérdida progresiva de la visión.

Objetivo del estudio:

  • Desarrollar y evaluar una nueva terapia génica para las IRD asociadas a RPE65.
  • Para restaurar el ciclo visual y la función visual a través del aumento de genes.

Principales métodos:

  • Entrega quirúrgica de un vector adenoviral portador del gen RPE65 humano normal a las células de la retina.
  • Evaluación de la restauración del ciclo visual y la recuperación de la función visual.

Principales resultados:

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  • La terapia génica entregó con éxito la proteína RPE65 funcional a las células de la retina.
  • Se observó la restauración del ciclo visual y la recuperación parcial de la visión.

Conclusiones:

  • La terapia génica RPE65 mediada por vectores adenovirales es un enfoque viable para el tratamiento de las IRD asociadas con RPE65.
  • Esta terapia de "banco al lado de la cama" ofrece potencial para la restauración de la visión en las personas afectadas.