Ending the diagnostic odyssey
Families with a rare neurological disease often wait years for an answer. Deep phenotyping and genome sequencing let us shorten that journey from years to weeks.

We unite genomics, neurology, and families to diagnose and treat the rare neurological diseases that affect children — turning unanswered cases into science, and science into hope.
Families with a rare neurological disease often wait years for an answer. Deep phenotyping and genome sequencing let us shorten that journey from years to weeks.
We pinpoint the single genetic variants that drive rare disease — and build the functional models that prove how each one breaks the developing brain.
Translational models reveal how neurodegeneration unfolds in childhood, so we can intervene before damage becomes permanent.
Working with clinicians, labs, and families worldwide, we move discoveries toward targeted treatments — and share every dataset openly.










Leads the center's clinical mission, caring for children with rare neurological disease.
Builds the pipelines that turn a child's genome into a diagnosis.
Maps how rare diseases reshape the developing brain through advanced MRI.
Turns genetic findings into disease models and candidate therapies.
Open science is how small diseases get big attention.
Read articleOur latest finding, now submitted for peer review.
Read articleHow genome sequencing finally named one family's rare disease.
Read articleClinicians, researchers, and families are all welcome. Send a note about a case, a collaboration, data access, or supporting the center — the right person will reply.
