Norrie Disease: Gene Therapy and Inner Ear Physiology

In course

Description

This lecture covers Norrie disease, a rare genetic disorder affecting the NDP gene and norrin protein. It discusses the disorder's general information, gene therapy design considerations, inner ear anatomy, cochlear function, tonotopical organization, primary auditory pathway, and cochlear hair cells. The lecture also explores CRISPR/Cas9 for targeting mutated alleles and the biological function of norrin in the Wnt signaling pathway.

Instructors (3)

Official source

https://mediaspace.epfl.ch/media/0_6iuwoi03

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Related concepts (35)

Auditory cortex

The auditory cortex is the part of the temporal lobe that processes auditory information in humans and many other vertebrates. It is a part of the auditory system, performing basic and higher functions in hearing, such as possible relations to language switching. It is located bilaterally, roughly at the upper sides of the temporal lobes – in humans, curving down and onto the medial surface, on the superior temporal plane, within the lateral sulcus and comprising parts of the transverse temporal gyri, and the superior temporal gyrus, including the planum polare and planum temporale (roughly Brodmann areas 41 and 42, and partially 22).

Inner ear

The inner ear (internal ear, auris interna) is the innermost part of the vertebrate ear. In vertebrates, the inner ear is mainly responsible for sound detection and balance. In mammals, it consists of the bony labyrinth, a hollow cavity in the temporal bone of the skull with a system of passages comprising two main functional parts: The cochlea, dedicated to hearing; converting sound pressure patterns from the outer ear into electrochemical impulses which are passed on to the brain via the auditory nerve.

Cochlea

The cochlea is the part of the inner ear involved in hearing. It is a spiral-shaped cavity in the bony labyrinth, in humans making 2.75 turns around its axis, the modiolus. A core component of the cochlea is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating the fluid chambers in the coiled tapered tube of the cochlea. The name cochlea derives . The cochlea (: cochleae) is a spiraled, hollow, conical chamber of bone, in which waves propagate from the base (near the middle ear and the oval window) to the apex (the top or center of the spiral).

Auricle (anatomy)

The auricle or auricula is the visible part of the ear that is outside the head. It is also called the pinna (Latin for "wing" or "fin", plural pinnae), a term that is used more in zoology.

Middle ear

The middle ear is the portion of the ear medial to the eardrum, and distal to the oval window of the cochlea (of the inner ear). The mammalian middle ear contains three ossicles, which transfer the vibrations of the eardrum into waves in the fluid and membranes of the inner ear. The hollow space of the middle ear is also known as the tympanic cavity and is surrounded by the tympanic part of the temporal bone.