As we head into 2024, we’ve taken a moment to look back at some of the recent headlines in the rare disease world from the last year.

FDA Approvals Roll In

FDA approvals paved the way for new treatment approaches in rare diseases with the approval of 41 new drugs. Almost half of all novel medications approved by the FDA are orphan drugs. These are drugs that are specifically studied in rare diseases and receive special designation from the FDA. [source]

Gene Therapy For Sickle Cell

The FDA approved the first gene therapies to treat patients with sickle cell disease. Gene therapy is a technique that modifies a person's genes to treat or cure disease and continues to be explored in a number of diseases. There are a number of cellular and gene therapy products already approved for rare diseases such as hemophilia A, beta-thalassemia Duchenne’s muscular dystrophy, as well as in other treatment areas. [source]

Reimbursement For Caregiver Training Programs

Caregivers in the US had good news from the Center for Medicare and Medicaid Services as the organization issued a final rule for payments that includes reimbursement for caregiver training and navigation services.[source]

National Rare Disease Action Plan In The UK

The UK Department of Health and Social Care issued an updated England Rare Diseases Action Plan 2023 to improve the lives of approximately 3.5 million people in the UK living with a rare disease. The action plan includes updated approaches to screening, plans for new research, expanded digital educational resources and development of a toolkit for virtual healthcare consultations, to improve care coordination for patients. [source]

Dozens Of New Rare Diseases Identified

60 new rare diseases were identified providing a diagnosis to 5,500 patients.  The Deciphering Developmental Disorders study, an initiative that analysed the genetic code of 13,500 families with unexplained disorders plans to continue their research through to 2030. [source]