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Why and How We Believe It Can Be Treated & Eventually Cured

In April 2003, the Human Genome Project—the world's largest collaborative biological effort—produced a sequence that accounted for over 90% of the human genome. The project’s goal was to identify the 30,000 or so genes making up the human genome, and then map and sequence them.

The "genome" of any given individual is unique, so mapping the "human genome" involved collecting samples from a small number of individuals and then assembling the fragments to get a complete sequence for each of 24 human chromosomes. As a result, the finished human genome is a mosaic, not representing any one individual.

But for many, including us, the project's historical importance came from the fact that the vast majority of the human genome is the same in all humans—which blazed a path where we could learn more about genetic variants in genes that might cause disease and, eventually, to conceptualize and craft how they might be replaced, fixed or otherwise addressed.

Luckily, Angelman syndrome is monogenic, which means that all cases of AS stem from problems on one specific gene, and not issues on multiple genes. But even more uniquely, that gene has an unusual mechanism attached to it—one that you don’t find in most others. It’s a phenomenon known as genomic imprinting, when one copy of a gene in an individual is expressed while the other copy is silent due to a chemical modification to the DNA. (This is rare. Most genes have two active copies.)

Having a healthy but silent copy of the gene in question, which is the case in the majority of AS cases, means there could be not one but two potential ways to fix it: gene replacement therapy (fixing the impaired mother’s copy) or gene activation therapy (unsilencing the healthy father’s copy).

To generate as many therapeutic pathways as possible, FAST invests in high-risk, high-reward research grants, which are yielding promising results. There are currently four clinical trials underway, with more hopefully coming online in the coming year. We believe a cure for AS is now within reach.

And the effects of that likely won’t stop at our own doorsteps: The gene that causes Angelman syndrome has been linked to several other diseases and genetic disorders involving learning and memory. The work FAST researchers are doing could very well be the gateway to therapies for other disorders that affect the lives of hundreds of thousands of people around the world.

This is why we believe Angelman syndrome can be cured. To learn how this is happening, go here.

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