Plan for a Cure: There are many modalities to a cure all of which need funding through fundraising for ongoing research and development. 

Scientists continue to explore the possibilities and refine the techniques of gene editing, with the hope of unlocking its full potential for the benefit of human health and other fields of study.

Once a comprehensive understanding of the mechanism of the GABA A gene has been established, GABA A Variants aims to explore the following avenues towards a potential cure:

Targeted Therapies: Investigating the development of therapies that specifically target the dysfunctional aspects of the GABA A gene, aiming to restore its normal functioning and alleviate associated symptoms.

Gene Therapy: Exploring the possibility of utilizing gene therapy techniques to correct or replace the faulty GABA A gene with a functional one, thus addressing the root cause of the disorder.

Pharmacological Interventions: Conducting research to identify and develop medications or drugs that can modulate GABA A receptor activity, enhancing its function and mitigating the effects of the gene variants.

Gene Therapies

Below is a list of the possible gene therapies:

RNA editing is a process that happens inside our cells to change the instructions carried by a molecule called RNA. RNA is like a messenger that takes the information from our genes and helps make proteins, which are important for our body’s functions.

During RNA editing, certain parts of the RNA molecule can be modified, added, or removed. This changes the instructions and can affect the final protein that is made.

Think of it like editing a sentence. Imagine you have a sentence that says “I like apples.” Through RNA editing, you can change it to say “I like oranges.” This small change can make a big difference in the meaning.

RNA editing is an important way for cells to fine-tune the instructions from our genes and adjust how proteins are made. It can happen in different ways, but one common type is changing a building block called adenosine to another one called inosine.

Antisense oligonucleotides are small pieces of genetic material that can be used to target specific genes in our cells. They are like tiny messengers that can interfere with the instructions carried by certain genes.

Our genes contain the instructions to make proteins, which are important for our body’s functions. Sometimes, there are genes that produce proteins that are either harmful or not functioning properly. Antisense oligonucleotides can be designed to bind to the genetic material of these specific genes and prevent them from producing the harmful proteins.

Here’s how it works: 

Think of it like placing a roadblock in front of a pathway. The roadblock, in this case, is the antisense oligonucleotide, and the pathway represents the gene’s instructions to make a protein. By blocking the pathway, the production of the problematic protein can be stopped or reduced.

Antisense oligonucleotides work by binding to the messenger RNA (mRNA), which is the intermediary between the gene and the protein production. When the antisense oligonucleotide binds to the mRNA, it can prevent the mRNA from being translated into a protein, or it can cause the mRNA to be degraded and broken down.

This targeted approach allows scientists to potentially treat genetic diseases by specifically addressing the underlying genetic cause. Antisense oligonucleotides have shown promise in the treatment of certain genetic disorders by modifying the production of specific proteins.

Gene replacement is a process that involves replacing a faulty or missing gene with a healthy copy. Genes are like the instruction manual for our bodies, and they determine things like our traits, functions, and how our bodies work.

Sometimes, due to genetic mutations or disorders, a gene may not work properly or may be missing altogether. This can lead to health problems or diseases. Gene replacement aims to fix this by introducing a new and functioning copy of the gene into the cells.

Here’s how it works: 

It’s similar to replacing a broken part in a machine. Imagine you have a broken gear in a clock that makes it stop working. To fix it, you would replace the broken gear with a new one. Gene replacement works in a similar way, but instead of a clock, we’re dealing with our bodies and genes.

The healthy copy of the gene can be delivered to the cells using various methods, such as through a harmless virus or by directly injecting it. Once inside the cells, the healthy gene integrates into the DNA and takes over the role of the faulty or missing gene. This allows the cells to produce the correct proteins or substances needed for normal function.

Gene replacement as the potential to treat genetic diseases by addressing the root cause at the genetic level. Scientists and researchers are continuously working on developing safe and effective gene replacement therapies to help individuals with genetic disorders lead healthier lives.

Gene editing using CRISPR is a powerful tool that scientists use to make changes in the DNA of living organisms, including humans. It’s like a molecular pair of scissors that can cut and modify the genetic material.

Our DNA contains the instructions that determine how our bodies work, what traits we have, and our susceptibility to certain diseases. Sometimes, there are errors or mutations in the DNA that can lead to health problems. CRISPR allows scientists to target and modify specific parts of the DNA to correct these errors.

Here’s how it works: 

CRISPR consists of two main components, a guide RNA and a protein called Cas9. The guide RNA acts like a GPS, guiding the Cas9 protein to the precise location in the DNA that needs to be modified.

Once CRISPR reaches its target, the Cas9 protein acts as molecular scissors, cutting the DNA at that specific spot. This break in the DNA triggers the cell’s natural repair mechanisms. Scientists can take advantage of these repair mechanisms to introduce desired changes to the DNA.

They can either insert a new piece of DNA to replace the cut section or make small modifications to the existing DNA sequence. This way, they can add, remove, or edit specific genes, allowing them to correct genetic mutations or introduce new traits.

CRISPR gene editing has the potential to revolutionize medicine by offering the ability to treat genetic diseases and develop new therapies. However, it’s important to note that CRISPR is still a rapidly advancing technology, and its use in human applications is heavily regulated and carefully researched to ensure safety and ethical considerations are addressed.

It is important to note that the pursuit of these potential roadways to a cure will be guided by ongoing scientific research, regulatory considerations, and ethical guidelines to ensure the safety and efficacy of any proposed treatments.

If you are an individual affected by a GABA A Variant, we wholeheartedly invite you to participate in our Natural History Study. Your informational contribution will expand the knowledge of GABA A Variants and help researchers find the necessary targets for treatments. Together we will take significant strides in understanding and addressing GABA A Variants. Join us today and make a difference!