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Rare Disease Report®

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

Rare Genomics Institute Launches Free Rare Disease Device Program

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

Medicare Part D Bills Could Harm Rare Disease Drug Development

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.  

New, Fundamental Biological Process Identified in Batten Disease

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

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

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.

Orphanet Publishes Clinical Management Guidelines for NPC

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.

Foundation of Late Football Legend Leads the Way for NPC1 Research

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.

Lysosomal Storage Disorders