Spastic Paraplegia Type 15 is a rare disease causing the motor neurons in the brain to waste away and die. This causes a breakdown in the communication between the brain, spinal cord and muscles. For sufferers like Maddi it can affect the use of limbs and the ability to walk, but as the disease progresses it will affect many muscles in Maddi's body!
Science to the rescue?
Unfortunately, like many rare diseases, there is little data for researchers to study to identify any possible cures or treatment. Currently, Maddi's best course of treatment is gene therapy, but to even begin treatment, the SaveOurMaddi foundation needs to raise £91,000 to study the responsible gene.
This is why Repositive went on a mission to try find any data or contacts related to SPG15. For every new data, study or contact suggestion provided, we are donating £200 towards Maddi's gene therapy. However, after 20 days of campaigning only 2 suggestions have been submitted. Although £400 will surely help, my personal goal was to donate £2,000, which is 8 more suggestions!
Let's take a look at our 2 leads...
Special thanks to Bioinformatics Scientist Richard Shaw for researching SPG15 and posting links to studies, one of which references a mouse model for SPG15.
We will be passing this information to the SaveOurMaddi Foundation and hope it can support their mission.
Help us donate £2,000 to support Maddi
We still have a long way to go to help Maddi, in terms of data, contacts and donations. We have £400 in donations ready to send, but we want to reach £2,000. If collectively we can support the development of treatments for the estimated 20 people living with Spastic Paraplegia Gene 15, it will show the world that data and community CAN power science! We can open the door for more initiatives and campaigns to follow our lead and help more people living with rare diseases, around the world.
Research is blocked due to the lack of data and all the time Maddi's condition just gets worse. If you were to share only one thing from Repositive, please make it this!
Please share this campaign on social media - it really helps!
To remind all our readers, there are several ways you can help...
You can head to discover.repositive.io and the data request for SPG15 data. If any users have data, they can register it on the platform. If any users know of any data, contacts, or publications relating to Spastic Paraplegia, they can leave a comment on the data request with links to online content. We will donate £200 for the first 10 registered data sets related to SPG15 or any new leads to contacts, data, research, publications etc.
You can email me at email@example.com with information, contacts and leads on data. You may want to make a more personal introduction to contacts, or you may not be a user of the Repositive platform. So I am more than happy to receive any lead on email. Again, we will donate £200 for the first 10 leads.
You can share this campaign with your networks. There is a high chance that our users or friends do not have SPG15 data or know of anyone working in the field. But there is a huge chance that someone we know, knows someone. Sharing this campaign can help us reach as many people as possible. You can share the campaign straight from this blog.
You can donate directly to the SaveOurMaddi campaign. Maddi's family would gratefully accept any donations towards Maddi's gene therapy treatment. You can simply head to their website to make a donation directly to the charity.
Craig hangs up the Lizard onsie to vlog about SaveOurMaddi
If anyone, anywhere has any questions regarding this campaign, please drop me an email on firstname.lastname@example.org.
The search for Spastic Paraplegia Gene 15 begins
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