by Peter Ciszewski | Nov 17, 2020
Niemann-Pick disease type C (NPC) is a disabling, lysosomal storage disorder that has been diagnosed prenatally, neonatally, during childhood, and even into adulthood.[1,2] This very rare genetic disorder is marked by progressive motor dysfunction and a highly...
by Peter Ciszewski | Nov 16, 2020
Andrew Krivoshik, MD, PhD, Oncology Therapeutic Area Head at Astellas Pharma gives an overview of treatment options for patients with acute myeloid leukemia (AML). AML is an aggressive rare cancer of the blood and bone marrow with a 5-year survival rate of...
by Peter Ciszewski | Nov 15, 2020
Taylor Sabky, mother of a 3-year-old boy who had Niemann-Pick disease type A, explains how she came to learn about this devastating disease – beginning with advice from her doctor to not google it while they confirmed a diagnosis. Taylor worked tirelessly to...
by Peter Ciszewski | Nov 11, 2020
Irina Anselm, MD, from Boston Children’s Hospital provides an overview of aromatic L-amino acid decarboxylase (AADC) deficiency. AADC deficiency is a rare, genetic disorder caused by defect in the dopa decarboxylase (DDC) gene that leads to a reduction in the...
by Peter Ciszewski | Nov 10, 2020
Richard A. Furie, MD, from Northwell Health explains the planning and execution of clinical trials for lupus nephritis. Lupus nephritis is an inflammation of the kidneys caused by systemic lupus erythematosus (SLE). As Dr. Furie explains in this video, clinical...
