New campaign will see Repositive community help UK girl with rare disease
Cambridge, 12 September 2017... Repositive, the company that created the world’s largest portal for accessing human genomic research data is using its data platform, community and influence to help Maddie Thurgood, a young girl from the UK with the rare disease, Spastic Paraplegia 15 (SPG15).
The SaveOurMaddi campaign was started in response to a lack of research and treatments for SPG15, a rare disease affecting the motor neurons located in the central nervous system. Motor neurons are nerve cells that transmit information from the brain to the spinal cord, and then to the muscles. SPG15 causes the motor neurons in the brain and spinal cord to waste away or die. Like many rare diseases, there is currently no treatment or cure for SPG15.
Repositive is connecting the world of genomic data to help researchers to help patients, faster. Through their software, community and collaboration, Repositive powers research into genetic diseases. To support the SaveOurMaddi campaign, Repositive is donating £200 for the first 10 leads for data, contacts or publications relating to SPG15. More information on how you can support this campaign can be found here.
The SaveOurMaddi campaign hopes to raise £91,000 to support research into gene therapy to do a gene replacement for SPG15.
Carina Thurgood, Maddi’s mother, said:
“When Maddi was diagnosed, I was in total shock. I had no idea something so sinister was hiding away. We were all devastated for Maddi, it has been a difficult time for her coming to terms with a progressive wasting disease at such a young age. There is no cure! Maddi is under the care of Great Ormond Street Hospital and we have travelled to the USA to see if they could help on treatments, but because it is so rare, it seems no one has been able to make a cure!”
Fiona Nielsen, CEO and Founder of Repositive said:
“We hope we can make a difference for Maddi by encouraging the community to collaborate on data and demonstrate to the world what is possible when genomic data is made visible, accessible and reusable.”