by Peter Ciszewski | Mar 2, 2021
Stephanie Cherqui, PhD, from the University of California, San Diego shares her insights into our current misunderstandings of cystinosis. Cystinosis is a rare lysosomal storage disorder due to mutations in the CTNS gene that leads to the accumulation of...
by Peter Ciszewski | Mar 1, 2021
Marsha Lanes, MS, CGC, of the National Organization for Rare Disorders (NORD), talks about the history of NORD and its current role in helping to raise awareness, educate, and provide support for the 25-30 million Americans with a rare disease. NORD is a...
by Peter Ciszewski | Feb 27, 2021
Dawn Laney, MS, CGC, CCRC, Assistant Professor, and Director of Emory Genetic Clinical Trials Center, discusses research suggesting advanced Fabry patients are at high risk for severe COVID-19 infection. Fabry disease is a rare X-linked lysosomal storage...
by Peter Ciszewski | Feb 27, 2021
Emily Holtvluwer, mother of two children with spinal muscular atrophy (SMA), explains the importance of Rare Disease Day. Rare Disease Day occurs on the last day of February and is designed to raise awareness for the 7000+ rare diseases that exist, including...
by James Radke | Feb 26, 2021
Matheus Wilke of the Hospital de Clinicas de Porta Alegre in Brazil, explains the origins of their booklet to educate children about enzyme replacement therapy (ERT) during the Covid-19 pandemic. As Mr. Wilke explains, the pandemic resulted in new safety...
