by CheckRare Staff | Feb 23, 2023
Jana von Hehn, PhD, Chief Scientific Officer of the Rett Syndrome Research Trust, discusses the challenges of diagnosing Rett syndrome. Rett syndrome is a multisystem disorder that primarily affects girls. Only in rare cases are boys affected (who may...
by CheckRare Staff | Feb 20, 2023
Henry Kaminski, MD, Professor of Medicine at The George Washington University ,provides a brief history lesson on our understanding of myasthenia gravis (MG). MG is a chronic autoimmune neuromuscular disease. Common symptoms include weakness of the muscles that...
by CheckRare Staff | Feb 16, 2023
Sangamo Therapeutics’ Focus on Rare Diseases Nathalie Dubois-Stringfellow, PhD, Senior Vice President of Product Development & Management at Sangamo Therapeutics discusses the company’s focus on rare diseases. Sangamo Therapeutics, Inc has several...
by CheckRare Staff | Feb 8, 2023
Gerald Vockley, MD, Ph.D., Head of the Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh, provides a brief history of newborn screening. Newborn screening began in the 1960s with phenylketonuria (PKU), pioneered by Dr. Robert...
by CheckRare Staff | Feb 3, 2023
Shaji K. Kumar, MD, Professor of Medicine at Mayo Clinic, discusses long-term efficacy and post-hoc subgroup analyses of MAIA, a phase 3 study evaluating the efficacy of daratumumab in combination with lenalidomide and dexamethasone (D-Rd) to that of...
