by Peter Ciszewski | Mar 4, 2023
Pramod Mistry, MD, PhD, Professor of Medicine at Yale University School of Medicine, provides an overview of the different types of Gaucher disease. Gaucher disease is a rare lysosomal disorder due to reduced levels of glucocerebrosidase that leads to the...
by Peter Ciszewski | Mar 1, 2023
The US Food and Drug Administration has approved omaveloxolone (Skyclarys) to treat persons 16 years and older with Friedreich’s ataxia. Friedreich’s ataxia is a degenerative neuromuscular disorder caused by mutations in the FXN gene which reduces the production of...
by Peter Ciszewski | Feb 13, 2023
The US Food and Drug Administration (FDA) has approved aflibercept (Eylea) to treat preterm infants with retinopathy of prematurity. This the fifth indication approved for aflibercept but the first approved orphan drug indication. ROP is caused by abnormal development...
by Peter Ciszewski | Feb 9, 2023
Jana von Hehn, PhD, Chief Scientific Officer of the Rett Syndrome Research Trust, provides an overview of Rett syndrome. Rett syndrome is a multisystem disorder that primarily affects girls. Only in rare cases are boys affected (who may experience more severe...
by Peter Ciszewski | Feb 7, 2023
Mark Kiel, MD, PhD, chief science officer at Genomenon and Catherine Nester, BSN, VP of Physician and Patient Strategies at Inozyme Pharma, discuss the prevalence of Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency. ENPP1 is an enzyme...
