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 Peter Ciszewski | Feb 26, 2021
Melanie McKay, mother of a young boy with infantile-onset Pompe disease, talks about the importance of Rare Disease Day. Rare Disease Day occurs on the last day of February to raise awareness of the 7000+ rare diseases that exist, including Pompe. Pompe disease...
by Peter Ciszewski | Feb 26, 2021
Reena Kartha, PhD, Associate Director of Translational Pharmacology at UMN’s Center of Orphan Drug Research (CODR), discusses current research being done on Gaucher disease. Gaucher disease is a rare lysosomal storage disorder in which glucocerebroside...
by Peter Ciszewski | Feb 25, 2021
John Jefferies, MD, of the University of Tennessee Health Science Center, discusses the use of Artificial Intelligence (AI) to diagnose Fabry disease. Fabry disease is a rare lysosomal storage disorder that results in the buildup of globotriaosylceramide....
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...
