The first makes the other three more reliable: without complete, comparable cases, even promising discoveries can be difficult to validate.
Develop a common, auditable set of investigation and sample-handling information with willing medical examiner offices. Measure missing data, sample usability, and family follow-up. Build on existing CDC guidance and registry work.
Success looks like: fewer cases with incomplete information and a clearer path for families and researchers.
Test findings from newborn blood spots across independent populations with careful case classification. Report how often a potential test would miss an affected baby or falsely flag an unaffected baby.
Success looks like: a replicated signal linked to a safe, effective action—not simply a statistically significant result.
Study breathing, arousal, and brainstem pathways using carefully preserved tissue and well-matched comparisons. Connect pathology to genetic, metabolic, medical, and environmental information.
Success looks like: a testable mechanism that withstands independent replication.
Preserve appropriate samples and evaluate the yield and cost of specialist-reviewed testing. Distinguish clearly between pathogenic findings and uncertain variants. Document whether relatives receive appropriate care.
Success looks like: more accurate explanations and useful follow-up, without overstating what genes can tell us.