by CheckRare Staff | Dec 29, 2021
Evan S. Dellon, MD, MPH, Gastroenterologist, and Professor of Medicine and Adjunct Professor of Epidemiology at the University of North Carolina Chapel Hill, gives an overview of the symptoms of eosinophilic esophagitis (EoE). As Dr. Dellon explains, EoE is a...
by CheckRare Staff | Dec 27, 2021
Kevin and Amy Young, parents of a young boy named Jack with KAT6A syndrome, talk about their son’s diagnostic journey. KAT6A syndrome is an ultra-rare genetic condition due to a mutation in the KAT6A gene. KAT6A syndrome patients vary widely in terms of...
by CheckRare Staff | Dec 22, 2021
Brendan Delaney, MBA, Chief Operating Officer of Aadi Bioscience, provides an overview of malignant perivascular epithelioid cell tumor (PEComa) and its treatment. As Mr. Delaney explains, PEComa is an ultra-rare family of sarcomas. Most PEComa begin as benign...
by CheckRare Staff | Dec 20, 2021
Karuppiah Kannan, Senior Director and Global Program Leader at Takeda Pharmaceuticals, discusses early results of a phase 1/2 study evaluating subasumstat (TAK-981) in combination with rituximab in multiple subsets of CD20-positive relapsed/refractory...
by CheckRare Staff | Aug 19, 2021
X-linked myotubular myopathy (XLMTM) a life-threatening, rare neuromuscular disease characterized by myopathy and hypotonia. Development of motor skills such as sitting, standing, and walking are impaired as a result of muscle weakness. Breathing and feeding may also...
