Matthew Ellinwood, DVM, PhD, Chief Scientific Officer at the National MPS Society, explains the 100 Patient Project — a patient registry underway to better understand mucopolysaccharidosis II (MPS II).
MPS II, or Hunter syndrome, is a rare lysosomal disease due to mutations in the iduronate 2-sulfatase (IDS) gene. More than 600 IDS disease-causing mutations have been implicated in MPS II. That, along with the wide variance in symptoms and symptom severity in MPS II patients, reinforces the need to better understand the link between the genetics of this condition and its natural history.
The 100 Patient Project is a collaborate effort between the MPS Society, the Genetic Alliance, Luna, and Takeda Pharmaceuticals to leverages whole-genome sequencing to create a rich, longitudinal data stream that can be viewed between industry, research, and the patient community.
To learn more about Hunter syndrome and other MPSs, visit https://checkrare.com/overview-of-the-mucopolysaccharidoses/
