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If one of your loved ones was sick, what would you be willing to do to help? For millions of Americans in the US, even though they would give up anything and everything, there is no way for them to help. For many rare diseases, because they are so rare, there are no therapies or even diagnostics. What is needed is research. However, very few people have the funding and the access to the technology needed to perform such a study. Non-profits and foundations have been a major force in pushing forward research, but for many rare diseases, no such groups exist. Rare Genomics Institute (RGI) is hoping to change that, especially for children such as Maya.
Struggling with global developmental delays, Maya has not been able to speak, has had problems hearing, and has undergone many surgeries. However, after many genetic tests, there still was no answer. Then Maya’s mother found out about RGI and how they are helping children with rare diseases. With RGI’s help, Maya’s mother was able to connect with researchers and design a custom research project just for her daughter.
Using RGI’s crowdfunding platform, Maya’s family sought to raise the amount needed. The response was overwhelming. Within 6 hours, donors from all over the US gave to their cause in small amounts of $5 - $50 to raise the funds necessary for whole exome sequencing. With the funding available, the scientists were able to start the research study.
In less than a year, there was a promising result. The researchers reported a novel genetic variant in Maya that caused a failure to produce a protein related to fetal development. This may be the very reason Maya is sick. Researchers are now confirming this finding and possibly finding a therapeutic that may help Maya. What is amazing is that this entire line of research, including this new discovery, would not have existed if not for Maya’s mother’s persistence and the generosity of those that donated.
While more studies are needed to analyze the exact function of the gene, this is definitely a major success for rare disease patients. This model shows great promise in complementing existing efforts in rare diseases For the many diseases and patients that current funding and research cannot cover, this model may be a solution for a diagnosis or even a cure.
At RGI, we strongly believe that all diseases should be studied. No matter how few affected. No matter how rare. Ask Maya.
Ken Macleod and the European stem cell research consortium OptiStem have produced a CC-licensed educational comic about genomics called "Hope Beyond Hype." It's available as a free download, or as a &gbp;1 hardcopy, with translations to follow in many languages.
'starts with the true life story of two badly burned boys being treated with stem cell generated skin grafts in 1983. We then follow the successes and setbacks of a group of researchers working together to use stem cells to cure blindness, whilst being introduced to knotty issues that are part of the process, including stem cell regulation and the controversial ethical issues surrounding the subject. Whilst some of the story lines sound like science fiction they are in fact all true, despite the fact the script was written by the well-known Scottish Science Fiction writer, Ken Macleod. Comic book artist Edward Ross illustrated the script with his clear, friendly and attractive artwork, whilst stem cell researchers from OptiStem provided the real-life examples of their research and experiences.'
Macleod is a hell of a science fiction writer, and he's awfully good at comics, too.