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Genetic testing has made a difference for so many families. When patients and families hear each other’s stories, they can serve as a beacon of support and inspiration.

Meet Carlotta

“My advice to parents would be to try to get that information and push for exome sequencing as early as possible because the more information you have earlier, the more you’re potentially able to do and help your child’s long-term outcome.”—Andrea, Carlotta's mother

Meet Estella

“My youngest child, Estella, was diagnosed at eight months old with an ultra-rare neurological disease called alternating hemiplegia of childhood. The power of a genetic diagnosis brought more than answers to my family; it brought a sliver of hope and potential for the future.”—Lacey

Science that serves people

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