Patient stories

Hear from families who turned to genetic testing in search of answers. Explore their journeys to a genetic diagnosis, the challenges they faced along the way, and what finding answers has meant for their families.

Carlotta’s story: How exome sequencing helped end a search for answers
Rare Disease Diagnostics

Carlotta’s story: How exome sequencing helped end a search for answers

Patient Stories
Ben’s story: How genome sequencing diagnosed Labrune Syndrome
Epilepsy

Ben’s story: How genome sequencing diagnosed Labrune Syndrome

Patient Stories

Science that serves people.

We’re scientists, but we’re also parents, siblings, and caregivers who understand how powerful an answer can be.