by Peter Ciszewski | Mar 17, 2021
Francesca Fumagalli, PhD, Researcher of Cardiovascular Medicine at Istituto di Ricerche Farmacologiche Mario Negri (IRCCS), gives an overview of metachromatic leukodystrophy (MLD). MLD is a lysosomal storage disorder caused by arylsulfatase A (ARSA)...
by Peter Ciszewski | Mar 16, 2021
Tracy McGregor, MD, Senior Director of Clinical Research at Alnylam Pharmaceuticals, discusses what she feels physicians should know about primary hyperoxaluria type 1 (PH1). PH1 is a rare genetic disease in which excessive oxalate production leads to painful...
by Peter Ciszewski | Mar 12, 2021
Emily Holtvluwer discusses the gene therapy her two children with spinal muscular atrophy (SMA) have received. As Ms. Hotvluwar explains, her oldest child was diagnosed several months after symptoms began to appear while her second child was diagnosed in...
by Peter Ciszewski | Mar 11, 2021
Michael Hocquemiller, PhD, and Samantha Parker of Lysogene talk about the latest developments in the company’s gene therapy, LYS-SAF302, to treat Sanfilippo syndrome type A. Sanfilippo syndrome type A (MPS IIIA) is a progressive, life-threatening, and rare...
by Peter Ciszewski | Mar 11, 2021
Regina Phillips, mother of a young child diagnosed with spinal muscular atrophy (SMA), talks about the 4 month journey to get properly diagnosed with this rare neuromuscular disorder. As Ms. Phillips explains, her son, Shane, was born looking very happy and...
