by Peter Ciszewski | Apr 9, 2021
Deborah Marsden, MD, Global Medical Expert, Medical Affairs, Ultragenyx, gives an overview of mucopolysaccharidosis type VII (MPS VII). MPS VII is a rare progressive metabolic condition that affects most tissues and organs. The disease is also known as Sly...
by Peter Ciszewski | Apr 8, 2021
Dawn Laney, MS, CGC, CCRC, Genetic Counselor and Director of Emory Genetic Clinical Trials Center, discusses the importance of knowing how to talk to parents about a newborn screening result. As Ms. Laney notes, when providing results of a newborn screening...
by Peter Ciszewski | Apr 8, 2021
Miganush Stepanians, PhD, President and CEO of PROMETRIKA, a clinical research organization (CRO), discusses study designs used in rare disease clinical trials and the common struggles researchers face when designing and conducting these trials. Generally, the gold...
by Peter Ciszewski | Apr 7, 2021
Susan Thornton, CEO of Cutaneous Lymphoma Foundation, gives an overview of cutaneous lymphoma and its subtypes. Cutaneous lymphoma is a rare subtype of non-Hodgkin lymphoma that primarily affects the skin. Cutaneous lymphoma can originate in B-cells (i.e.,...
by Peter Ciszewski | Apr 7, 2021
Roberto Salvatori, MD, Medical Director, Johns Hopkins Pituitary Center and Professor of Medicine at Johns Hopkins discusses some of the challenges of diagnosing acromegaly, a rare disorder that occurs when your body makes too much growth hormone. Produced...
