Work over the past 30 years has resulted in the identification of genes for approximately 50% of the estimated 7,000 rare genetic diseases; it is predicted that most of the remaining disease genes will be identified in the next 10 years. Approximately 500 medicinal products are currently on the market for rare diseases. The accelerating pace of rare disease gene identification means, in effect, an almost commensurate increase in molecularly defined, readily diagnosable, but nonetheless poorly understood and untreatable diseases. This symposiumwill examine the current and future bottlenecks to gene discovery, disease modeling and therapeutic approaches and suggest strategies to enable progress in this regard. Ultimately, successful deployment of precision medicine for rare diseases will inform such approaches more broadly.
Kaan Boztug, Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Austria: "From Monogenic Immune Dysregulation to Targeted Therapies" on Tuesday, November 13th