Research to understand the causes of these diseases, and to develop better care and eventually therapies for all the Glycoprotein Diseases is a high priority for ISMRD.
Our work includes the following:
• Invested over $70,000 of ISMRD funds in the Natural History Study for our diseases. We did this in partnership with the Greenwood Genetic Center, and supported a successful grant application to the NIH for $250,000 for the study. Part of the $70,000 contribution included a Research Scholarship won by Jenny Noble (ISMRD Board member) for the inclusion of families living in Australia and New Zealand to be part of the Natural History Study. This Scholarship enabled Sara Cathey the lead investigator and her team to travel to Australia and New Zealand. Read the 2018 commentary from Dr Cathey which outlines the development of the study and gives links to numerous publications which resulted from the data gathered.
• Collaborated with the US MPS Society in 2013 to fund a $40,000 research project by Dr. Heather Flannagan-Steet, studying cardiac features of Mucolipidosis, using a Zebrafish model. Click here for the project outline and Heather’s reports in 2014 and 2015 on the study results
• Ran successful research fundraisers in 2016 in partnership with other Rare Disease groups worldwide to generate $150,000 for research. This fund was allocated in early 2017 to:
• Gathering updates from experienced researchers on the state of research on our diseases, showing knowledge progress, future challenges and core publications. More will be added as they come to hand:
Mucolipidosis review by Dr. Richard Steet. Prepared in 2016 and updated 2018 – Review here
Aspartylglucosaminuria review by Professor Ritva Tikkanen, updated Jan 2018 – Review here
Sialidosis review by Dr. Sandra d’Azzo updated Jan 2018 – Review here
Galactosialidosis review by Dr. Sandra d’Azzo updated Feb 2019 – Review here