Rare Pediatric Neurological Diseases Research Center
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Research Center

Decoding rarepediatricbrain disease

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.

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01 / 04Diagnosis

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.

02 / 04Genomics

Reading the genome

We pinpoint the single genetic variants that drive rare disease — and build the functional models that prove how each one breaks the developing brain.

03 / 04Neuroscience

Protecting young brains

Translational models reveal how neurodegeneration unfolds in childhood, so we can intervene before damage becomes permanent.

04 / 04Therapy

From gene to therapy

Working with clinicians, labs, and families worldwide, we move discoveries toward targeted treatments — and share every dataset openly.

NEURAL ENGINE · SEED → GENOME 000%
Genome · Mind

Where genes meet the mind

300+
Rare diseases studied
1,200
Children & families
40
Gene discoveries
18
Partner clinics
The people

Minds behind the mission

DM
Dr. Mara Lindqvist
Senior · Neuroimaging

Maps how rare diseases reshape the developing brain through advanced MRI.

Selected articles
Pediatric brain atlases
DJ
Dr. Jonas Pereira
Research Fellow · Translational Neuroscience

Turns genetic findings into disease models and candidate therapies.

Selected articles
Modelling neurodegeneration
Field notes

From the lab notebook

Get in touch

Tell us how we can help

Clinicians, 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.

Rare Pediatric Neurological Diseases Research Center