by Madaline Spencer | Apr 25, 2023
Shawn Connor, father of a girl with Rett syndrome, talks about his daughter’s diagnostic journey. Rett syndrome is a rare, progressive neurodevelopmental condition that primarily affects girls. These girls appear to develop normally during the first 6 to 18...
by Madaline Spencer | Apr 25, 2023
Sitra Tauscher-Wisniewski, MD, Vice President of Clinical Development & Analytics at Novartis Gene Therapies, discusses the importance of early diagnosis of spinal muscular atrophy (SMA). SMA is a genetic disease that affects motor neurons in the...
by James Radke, PhD and Madaline Spencer | Apr 24, 2023
Alex Dorenbaum, MD, Chief Medical Officer of Reneo Pharmaceuticals, gives an overview and update of the STRIDE study of mavodelpar (REN001) in primary mitochondrial myopathies (PMM). What Are PMMs? PMMs are a group of rare metabolic disorders caused by...
by Madaline Spencer | Apr 20, 2023
Julia Warren, MD, Ph.D., Associate Professor of Hematology at the University of Pennsylvania and Hematologist at Children’s Hospital of Philadelphia, discusses the results of a phase 1b trial evaluating mavorixafor across patients with chronic neutropenic...
by Madaline Spencer | Apr 13, 2023
Alex Dorenbaum, MD, Chief Medical Officer of Reneo Pharmaceuticals, explains primary mitochondrial myopathies (PMM). As Dr. Dorenbaum explains, PMMs are a group of rare metabolic disorders caused by mutations or deletions in mitochondrial or nuclear DNA. These...
