This was part of Decision Making in Health and Medical Care

Catalyzing Innovation in Rare Diseases: Platforms and Other Novel Approaches

Anne Pariser, NIH/NCATS

Monday, May 17, 2021

Abstract: There are an estimated 7,000 different rare diseases, most of which are single gene disorders potentially amenable to gene-targeted therapies. Given that individual rare diseases affect small numbers of patients – a few hundred to a few thousands each (sometimes fewer) – and that less than 5% of rare diseases have an approved therapy, new strategies are needed to accelerate rare diseases therapeutics development. Many diseases at a time approaches, platforms, and shared molecular etiology targeting are currently being piloted for rare genetic disorders, and hold promise for accelerating therapeutics development for many more rare diseases.