Humanity in Science: Optimizing Diagnostics of Rare Diseases in Newborns


The Humanity in Science Award was created in 2015 by Phenomenex and The Analytical Scientist to recognize outstanding developments in science that could potentially improve our world.
The inaugural winners, Peter H. Seeberger and Andreas Seidel Morgenstern, claimed top prize last year with their discovery of a cost-efficient process to produce artemisinin-based therapies—a highly effective, but commonly counterfeited, kind of anti-malarial treatment.
Recently, The Analytical Scientist sat down with the runners-up of 2015’s award to catch up, and find out how their ventures have progressed in the last 12 months.


Frantisek Turecek

Optimizing enzyme assays for rare disease diagnosis in newborns

Krabbe. Tay-Sachs. Niemann-Pick.

These are just a few of the conditions known collectively as lysosomal storage disorders—rare, but devastating diseases that mostly affect children and often go undiagnosed until it’s too late.turecek2

Employing analytical techniques like mass spectrometry, University of Washington chemistry professor Frantisek Turecek has been working a diligent 17 years to develop and optimize the enzyme assays that detect lysosomal storage disorders.

“A child can be born and look perfectly OK,” Turecek explained, “but in the months and years that follow, diseases can present themselves. The child stops thriving, deteriorates, and then dies.”

 “Because these are rare diseases—prevalence [being] about 1 in 7,500—they are basically overshadowed by the most common ones. Physicians aren’t trained to recognize them.”

Turecek’s team aims to transition the technology they develop into a newborn screening lab for trial programs. Therefore, infants can receive treatment immediately—even before symptoms show—and “develop under much improved conditions.”

The job of a lysosome is to metabolize excess sugars and fats into substances that cells can use. According to Children’s National Health System, those excess substances can affect a range of organs when not excreted properly, from the brain to the spleen to the liver.

There are no cures for lysosomal storage disorders, though bone marrow and umbilical cord blood stem cell transplants have shown promise in slowing disease progression and restoring missing enzymes.

Related resources:

• Real Life Application: Newborn Screening

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