by Peter Ciszewski | Feb 25, 2021
Regina Philipps, mother of a three-year-old diagnosed with spinal muscular atrophy (SMA), talks about the difficulties in getting this rare disease part of the NBS panel in New Jersey. As Ms. Philipps explains, everyone involved in the process is in favor of...
by Peter Ciszewski | Feb 25, 2021
Stephanie Cherqui, PhD, from the University of California, San Diego shares her insights into our current understanding of cystinosis. Cystinosis is a rare lysosomal storage disorder characterized by the accumulation of cystine in various organs, including the...
by Peter Ciszewski | Feb 24, 2021
Eric Wallace, MD, University of Alabama at Birmingham (UAB) Medical Director of Telehealth, Director of the UAB Home Dialysis Program, and co-director of the UAB Fabry Disease Clinic, discusses concerns some have about clinical trials for Fabry disease. Fabry...
by Peter Ciszewski | Feb 23, 2021
Siddhee A. Sahasrabudhe, MS, PhD Student of Pharmacology at UMN’s Center of Orphan Drug Research, discusses research on the potential interactions between an oral Gaucher disease treatment and an investigational COVID-19 therapy. Gaucher disease is a rare...
by Peter Ciszewski | Feb 22, 2021
Marsha Lanes, MS, CGC, of the National Organization of Rare Disorders (NORD), talks about the many activities the organization has planned for Rare Disease Day – February 28th. As Ms. Lanes explains, numerous events are planned, including social media...
