Right now, there are only an estimated 10 people in Ireland who have been diagnosed with a form of mucopolysaccharidosis type I (MPS I) called Hurler syndrome. This is the…
According to a recent article, the family of a young boy from Australia who is diagnosed with the rare genetic disease mucopolysacchariodosis type 1 (MPS 1) is sharing his story to…
Currently, the standards-of-care for patients with Hurler syndrome, or one of the forms of mucopolysacchardiosis type I (MPS I), include enzyme replacement therapy and hematopoietic stem cell transplants. However, Medical…
At the very end of March 2021, specialty pharmaceuticals company JCR Pharmaceuticals Co., Ltd. ("JCR") shared that its investigational drug candidate JR-171 received Orphan Drug designation from the European Medicines…
The Daily News recently published an announcement by researchers at Sangamo Therapeutics showing the results of its first human trial to treat two rare genetic disorders through gene-editing technology. Gene-editing (or…
Lawmakers in the U.S. state of North Carolina have expanded the state’s newborn screening testing to include three more conditions. These are Pompe disease, Mucopolysaccharidosis type 1 (MPS 1), and…
Haley Hayes is a normal pre-teen, yet she suffers from Pompe disease. Pompe disease is a genetic condition, which causes muscle and organ impairment. Early diagnosis and enzyme replacement therapy…
The Virginia Newborn Screening Advisory Committee met late last week to determine the fate of Pompe Disease and MPS-1 screening in VA. Before the vote took place, some families spoke…
The fate of newborn screening for Pompe disease and MPS-1 throughout the state of VA will be determined next week. The VA Newborn Screening Advisory Committee meeting will take place…
Some diseases are so rare that it feels like researchers have given up on finding a cure. So was the case with Mucopolysaccharidos 1 (MPS I) and one such young…
Recent findings from research done at the University of Pennslyvania indicate a new biomarker associated with a group of rare metabolic diseases called mucopolysaccharidoses (MPS). A biomarker is a measurable…
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