by CheckRare Staff | Jan 3, 2024
Eric Crombez, MD, Chief Medical Officer of Ultragenyx, describes osteogenesis imperfecta. Transcription: I’m Eric Crombez. I’m Chief Medical Officer at Ultragenyx. I’m a biochemical geneticist by training, so I do have experience during my...
by CheckRare Staff | Jan 2, 2024
First characterized 30 years ago, aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic disorder that affects the central nervous systems of young patients [1,2]. AADC deficiency is caused by defect in the dopa decarboxylase (DDC) gene, which leads...
by CheckRare Staff | Dec 26, 2023
Rare genetic conditions affecting blood vessels can have severe and lifelong symptoms, including seizures and impaired development. These conditions, such as Sturge-Weber syndrome and Phakomatosis Pigmentovascularis with Dermal Melanocytosis (PPV-DM), can...
by CheckRare Staff | Dec 22, 2023
Desmoid tumors, a rare subtype of soft tissue sarcomas, have long posed a challenge in the medical field. These non-cancerous tumors can be locally aggressive, invading surrounding structures and organs, leading to severe pain and disability. Until recently,...
by CheckRare Staff | Dec 21, 2023
The U.S. Food and Drug Administration (FDA) has granted approval to Wainua (eplontersen) for the treatment of the polyneuropathy of hereditary transthyretin-mediated amyloidosis in adults, commonly referred to as hATTR-PN or ATTRv-PN. Eplontersen is the only approved...
