The first sign of Batten disease usually arrives too late. By the time a child loses vision or begins having seizures, irreversible neurological damage has already occurred.
A 6-month-old girl in New York became an exception. She received a diagnosis before any symptoms appeared, giving her family a rare opportunity to act early.
Whole genome sequencing catches what standard tests miss
The girl participated in the GUARDIAN study, a New York initiative providing free whole genome sequencing to newborns. While standard screening in the U.S. checks for 30 to 50 diseases, this program examines 450 genetic conditions using the same blood sample collected at birth.
Results from the first 4,000 infants showed the test detected serious genetic conditions in nearly 4% of children. Over 90% of those cases would have been missed by traditional methods, as reported in JAMA last year.
For the infant with Batten disease, the early diagnosis allowed treatment to start immediately. Doctors and parents hope to delay or prevent some of the neurological damage typically associated with the disease. Though outcomes remain uncertain, the family gained an advantage previously unavailable.
Dr. Wendy Chung, a clinical and molecular geneticist at Columbia University, leads the program. Funding comes from Sanofi, Illumina, and GeneDx, with plans to screen up to 100,000 newborns across New York.
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Diagnoses reshape families—and futures
For many parents, genetic testing does more than provide answers. It alters their path forward.
Eliza Goldwasser’s son received a diagnosis of AUTS2 syndrome after years of searching for an explanation for his developmental delays. The finding linked the family to researchers, clinicians, and other families studying the same condition. It also revealed the genetic change was spontaneous, offering clarity as they considered expanding their family.
“A diagnosis doesn’t change who your child is,” Goldwasser said. “But it can change everything afterward.”
She founded the AUTS2 Research Collaborative, which connects families, scientists, and industry partners to advance research and treatments for the condition.
From uncertainty to action
Goldwasser emphasized the importance of access: “Every family should have timely genetic testing, not just to identify a condition, but to start building the future it allows.”
Recent acquisitions in the biotech sector reflect growing investment in rare disease research.
