Rare Disease Day at NIH aims to raise awareness about rare diseases, the people they affect, and NIH collaborations that address scientific challenges and advance research for new treatments.

The 18th conference on rare disease combines recent research on genetic mechanisms involved in disease, with advances in approaches for clinical care. This year’s conference will include discussions on the use of a ‘pangenome’ to improve diagnostic yield, the role of common variants in rare disease, and new developments in prenatal and neonatal genomic screening.

Join pioneers from Commercial, Marketing, Medical Affairs, RWE, Market Access, Patient Engagement, and key stakeholders, will come together to deliver value to overcome the challenges that threaten the future viability of innovation.

Bringing together key figures from industry, regulatory bodies, patient non-profits, payers, and key service providers, this is the field’s foremost meeting for collectively progressing rare gene therapy programs into and through the clinic.