by CheckRare Staff | Mar 11, 2023
The US Food and Drug Administration (FDA) has approved trofinetide (Daybue) to treat persons with Rett syndrome who are two years of age and older. This the first and only drug approved for the treatment of Rett syndrome. Rett syndrome is a rare progressive...
by CheckRare Staff | Feb 27, 2023
Everett Alms, a 16-year-old with Bardet-Biedl syndrome, along with his parents, Bonnie and Will, describe their diagnostic journey. Bardet-Biedl syndrome is a rare genetic disease that can impede many organs. Numerous genes have been linked to this rare disease...
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...
