Daniel Woo
University at Buffalo, NY·Medicine & Clinical Research
Newborn screening tests a few drops of blood from every baby to catch serious genetic diseases before symptoms start, when treatment works best. For some disorders, however, most positive screens turn out to be false alarms.
- Fields
Medicine & Clinical Research
Genetics
Public Health & Epidemiology
- Topics
newborn screening
Krabbe disease
Pompe disease
- Grants
- 1 known grant, through Feb 2027
What they work on
- Prospectively collect psychosine and galactocerebrosidase enzyme levels from dried blood spots of infants who screen positive for Krabbe disease across a multi-state referral network called BANS.
- Follow screen-positive infants to test whether the two-marker bivariate normal limits (BVNL) tool, applied to blood spots collected before symptoms, predicts which infants develop Krabbe disease.
- Develop BVNL two-marker screening tools for Pompe disease and mucopolysaccharidosis type I, using network data and newborn blood spots from the Virtual Repository of Dried Blood Spots.
- Prospectively determine how well the new BVNL tools predict Pompe disease and mucopolysaccharidosis type I among infants with positive newborn screens.
More about the research
In New York State, only 1.4% of babies flagged for Krabbe disease actually had it. Such false positives can delay a correct diagnosis, expose healthy infants to risky treatments, and cause needless worry for parents. The project aims to make screening much more accurate for three rare inherited disorders. Krabbe disease (KD) destroys the protective coating of nerves. Pompe disease (PD) damages muscles. Mucopolysaccharidosis type I (MPSI) causes harmful build-up of sugar molecules in tissues.
Why it matters
Better newborn screening for Krabbe disease, Pompe disease and MPSI could ensure that affected babies get treatment quickly, while it is most effective. It could also spare healthy babies from potentially dangerous unneeded treatments, such as therapies that carry a risk of death, and spare their parents the anxiety of false-positive results. State screening programs could adopt such tools.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
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The school
University at Buffalo: 32 labs on PI Pages, $542M a year on research, 316 research doctorates a year.
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