Leveraging Evidence-Based Public Policy and Advocacy to Advance Newborn Screening in California.

In 2016, the EveryLife Foundation for Rare Diseases, in partnership with Dr Pan, who is a pediatrician and state senator in California, launched legislation to advance and expand newborn screening. Researchers have shown that newborn screening can be cost-effective and can greatly improve health outcomes for patients with rare diseases. However, adding additional diseases in newborn screening is a long process, requiring legislative approval in addition to new state funding.

Patients as key partners in rare disease drug development.

Rare disease drug development could benefit substantially from increased patient engagement and input to enhance understanding of the key aspects of disease impact, ways to measure these impacts and patients' perspectives on the benefit-risk profile of potential therapies.