Investigación

Terapias génicas

«La promesa de la terapia génica es que aborda la causa fundamental de una enfermedad. Pero aún se encuentra en una fase inicial. Queda mucho por descubrir en materia de innovación. No se puede confiar en la tecnología del pasado: hay que innovar constantemente». — Rachel McMinn, doctora — Directora ejecutiva y fundadora de Neurogene

Las terapias génicas son enfoques terapéuticos que modifican el funcionamiento de un gen, por lo que se dirigen a la causa fundamental de las enfermedades genéticas. Existen varios tipos diferentes de terapia génica.

Gene replacement

This approach adds a working version of the CASK gene into the body to compensate for the faulty one. 👉 Think of it like adding a new instruction manual when the original is damaged.

¿Funcionará en los trastornos CASK?

Gene replacement has been licenced for other neurological diseases like Spinal Muscular Atrophy (SMA) and AADC deficiency. For CASK disorders, getting the right "dose" will be of vital importance, delivery to the brain is difficult and immune response risks are high. A gene replacement trial for a similar disorder (STXBP1) has been halted following the death of a child in the trial. The CASK community were hopeful that the technology used in this gene therapy would be one it could harness for its own clinical trials. The cause of the death is still unknown.

X-Chromosome reactivation (females only)

Girls have a "backup" copy of the CASK gene that is switched off. This approach tries to turn that healthy copy back on. 👉 Like switching the power back on to a spare system that was shut down. A very natural approach since it uses the body's natural gene and avoids adding new DNA. It may also maintain natural regulation. This research is still at an early stage and has never been licenced.

¿Funcionará en los trastornos CASK?

It could be a viable therapeutic but only for females, since males do not have a "back-up" copy of the CASK gene to switch back on. Early work in CASK has shown that it is possible to switch back on the silenced CASK gene in human cells. We are awaiting work to begin on mouse models.

Read about our teams working on gene therapies →

Base editing

This technique corrects tiny spelling mistakes in the DNA. 👉 Like fixing a single typo in a long document. Very precise; no extra DNA is added (reducing risk). Delivery to the brain remains challenging and it is still experimental.

¿Funcionará en los trastornos CASK?

Works best for correcting single-letter DNA changes (point mutations) rather than larger deletions, insertions, or complex rearrangements — making it not applicable to many in our community.

Prime editing

A more advanced version of gene editing that can fix a wider range of DNA errors. 👉 Like using "find and replace" to fix whole sections of text. Very flexible and can correct more complex mutations, but still at an early stage of development and appears complex to deliver.

¿Funcionará en los trastornos CASK?

Theoretically it could work for all types of CASK mutations. However it is still being developed and needs a lot of work before it can reach clinical trials in humans.

RNA editing

Instead of changing the DNA, this fixes the message it sends to make the protein. 👉 Like correcting a photocopy of instructions that will be used to make the product, rather than the original document stuck inside the library. Potentially much safer than tinkering with DNA, but the effect is temporary so treatment may need repeating.

¿Funcionará en los trastornos CASK?

Would only work for some specific mutations and comes with delivery challenges (getting it into the right cells). Very early in development.

RNA trans-splicing

Replaces faulty parts of the gene's message (the RNA) with healthy sections. 👉 Like cutting out a damaged paragraph and inserting a correct version. Like RNA editing it avoids permanent gene changes but comes with the same disadvantages. Still in very early stages.

¿Funcionará en los trastornos CASK?

A clever approach, but difficult for CASK disorders. CASK mutations are spread across the gene, so multiple therapies would have to be created. Works best for inherited disorders where many patients have the same mutation (e.g. sickle cell anaemia).

Relacionado

CURE CASK Investigación sobre CASK