Resources
What we publish, in one place: guidance for families navigating an ultra-rare diagnosis, and the regulatory documents behind our treatment programs.
For Parents and Caregivers
Where to start after a diagnosis: navigating the healthcare system, connecting with other families, and managing your child’s medical information.
Regulatory Documents
The IND documents from our treatment programs, published openly so other families and foundations can follow the same path.
Scientific Literature (TNPO2)
The literature on TNPO2 and the biology around it, from the paper that first tied TNPO2 variants to developmental delay out to the datasets a researcher can query directly.