by CheckRare Staff | Jan 12, 2023
WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with neutropenia that typically presents in childhood or adolescence. However, due to the heterogeneous presentation of the disease, coupled with lack of awareness of the condition,...
by CheckRare Staff | Jan 12, 2023
Ryan Jacobs, MD, of the Atrium Health Levine Cancer Institute in Charlotte, NC, provides an overview of the current treatment landscape for patients with chronic lymphocytic leukemia (CLL). CLL is a rare blood cancer resulting in a build-up of lymphocytes in...
by CheckRare Staff | Jan 11, 2023
Laura Gault, MD describes the Complement system and how manipulation of that system can be used to treat numerous rare conditions. As shown in the figure below (open source figure courtesy of Schartz, Tenner, 2020), Complement is activated by three different...
by CheckRare Staff | Jan 10, 2023
Mechanism of Action of SYNB1353 to Treat Homocystinuria Can Ficicioglu, MD, PhD, Clinical Director of the Metabolic Disease Program at Children’s Hospital of Philadelphia, discusses positive top-line data from the phase 1 clinical trial in...
by CheckRare Staff | Jan 9, 2023
What is Homocystinuria (HCU)? Can Ficicioglu, MD, PhD, Clinical Director of the Metabolic Disease Program at Children’s Hospital of Philadelphia, gives an overview of homocystinuria. As Dr. Ficicioglu explains, homocystinuria is a rare congenital...
