by Peter Ciszewski | Mar 13, 2020
Melissa Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore, talks about Acid Sphingomyelinase Deficiency (ASMD), also known as Niemann-Pick Disease. ASMD is an autosomal recessive genetic disorder caused by mutations...
by Peter Ciszewski | Mar 11, 2020
Geoff MacKay, president and CEO of Avrobio, a gene therapy company focused on lysosomal diseases talks about the FDA’s guidances they have published to help industry and researchers develop gene therapies. As MacKay explains in this video, the guidances have...
by Peter Ciszewski | Mar 10, 2020
David Dale, MD at the University of Washington Medical Center in Seattle discusses his paper (Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome) published in Current Opinion in Hematology (January 2020 – Volume 27...
by Peter Ciszewski | Mar 9, 2020
Jennifer Siedman, Patient Disease Outreach Coordinator for the Courageous Patient Network, explains how this non-profit organization helps those families managing children with a serious illness. The organization currently has over 700 videos by parents to...
by Peter Ciszewski | Mar 8, 2020
The U.S. Food and Drug Administration (FDA) has approved Isturisa (osilodrostat) to treat adults with Cushing’s disease who either cannot undergo pituitary gland surgery or have undergone the surgery but still have the disease. Cushing’s disease is a rare endocrine...
