Lysosomal Storage Disorders

Rare Genomics Institute Launches Free Rare Disease Device Program

February 29, 2020


The RareWear program is designed to bridge medical device companies to rare disease patient applicants, seeking better disease and treatment monitoring.

Medicare Part D Bills Could Harm Rare Disease Drug Development

February 29, 2020


New research suggests proposals aimed at reducing out of pocket costs may harm minimally-funded drug developers.

New, Fundamental Biological Process Identified in Batten Disease

November 08, 2018


A new, fundamental biological process in CLN8 disease, a form of Batten disease, has been discovered by a team of investigators from Baylor College of Medicine.

Lyso-Gb1 Identified as Most Effective Biomarker for Gaucher Disease Monitoring

May 01, 2018


Lyso-Gb1 Identified as most efefctive biomarker for Gaucher disease monitoring.

Orphanet Publishes Clinical Management Guidelines for NPC

April 07, 2018


Tarekegn Geberhiwot, MD, of the Institute of Metabolism and Systems Research and colleagues had an article published in the Orphanet Journal of Rare Diseases, outlining the development of clinical management recommendations for Niemann-Pick disease type C.

Foundation of Late Football Legend Leads the Way for NPC1 Research

February 02, 2018


The director of the Ara Parseghian Medical Research Fund promoted the organization’s new initiatives to raise money for NPC1 research during an address to Notre Dame’s student senate this week.

Orphazyma A/S Granted Rare Pediatric Disease Designation for NPC Treatment

January 19, 2018


Arimoclomol, in development by Danish biotech Orphazyme A/S for the treatment of Niemann-Pick Disease Type C, was granted rare pediatric disease designation by the U.S. FDA this morning.