Thanks to a Canadian with a rare disease, Dallas Mavericks owner and Shark Tank Mark Cuban just donated $250,000 towards developing a gene therapy to cure mucopolysacharridosis II (MPS II or Hunter syndrome).
Facial recognition software is quickly changing the speed at which patients with rare genetic conditions can be diagnosed. The software can recognize those children long before symptoms appear thanks to 2 patient advocacy groups – Cure Sanfilippo Foundation and Jonah’s Just Begun Foundation.
Whether Kim Angel succeeds at finding that next viral campaign is not known but her patient advocacy group is well organized and ready to accommodate a rapid change in attention and awareness that would come with a viral campaign.
A study recently published in the Orphanet Journal of Rare Diseases indicates that our efforts to increase the awareness of 2 rare conditions — mucopolysaccharidosis I (MPS I, Hurler syndrome) and MPS III (Sanfilippo syndrome) — has not shortened their time to diagnosis.