Incredibly, we actually made it to Houston, Texas, where we presented a cheque for £117,000 to Huda Zoghbi at the Baylor College of Medicine. Donating this money now means that the project we have so desperately wanted to get under way is fully funded and the work can start!
See below pictures of our incredible trip…I still can’t believe it’s actually happening! Thank you all again so much for your support and generosity over the last twelve months!
During our visit we were shown around the laboratories and listened to presentations from the research team, explaining the project in greater detail. They were also very excited to share with us further channels that they had discovered during their research; in particular a new strategy that could potentially be a stepping-stone to the dream scenario of a drug based treatment. Unfortunately, even if a drug is identified, it would require FDA approval, a process that can take many years.
The new project is a therapeutic based strategy, aimed at testing whether reversibility of MECP2 Duplication Syndrome can be achieved using a pharmaceutical like molecule called Anti Sense Oligonucleotides or ‘ASO’ for short. To put this simply, these ASO’s are readily available for use and therefore do not require FDA Approval. If a strategy like this was a success, then Ellis could start to have treatment much earlier, whilst a drug based product was identified and approved for human use.
The cost of this project is $230,000…oh dear…here we go again! To be continued…