Rare Disease Day: Why Screen Newborns for Disease

Today is Rare Disease Day. Around the world, organizations are recognizing Rare Disease Day through advocacy, events, and education. In recognition, our President and co-founder Vamsee Pamula, PhD discusses the impact of identifying all diseases, including rare diseases, at birth through newborn screening.

Lab Workflow Comparison: NeoLSD vs. SEEKER

When new conditions are added to the newborn screening panel, the lab needs to implement changes to the workflow. When deciding between screening platforms, lab directors have to weigh the impact on existing workflow. For newborn screening of RUSP-approved Pompe disease and MPS I, two FDA-cleared tests can be compared: PerkinElmer NeoLSD on tandem mass spectrometry and Baebies digital microfluidics platform SEEKER. See how SEEKER’s workflow significantly saves resources versus the competition.

Founders’ Report 2018

Four years ago, we started Baebies with a singular mission to save lives and make lives better for all children. Today, we celebrate the shipment of our 4 millionth test to newborn screening programs. Six states are now using Baebies SEEKER, the first FDA-cleared newborn screening platform for lysosomal storage disorders (LSDs). Our digital microfluidics technology has helped to identify babies with these rare diseases early enough to start treatment before life-threatening symptoms appear. So, what’s next?

False Positive Rate Comparison: SEEKER vs. NeoLSD

Baebies SEEKER was the first FDA-cleared product for newborn screening of lysosomal storage disorders (LSDs) in February 2017. Now that a second product NeoLSD has received clearance, a true clinical data comparison can be made from the 510(k) submissions. The results? NeoLSD’s false positive rates are roughly double those of SEEKER.

Newborn Screening – How to Fill the Gap to End Diagnostic Odysseys

Many of the over 7000 rare diseases identified so far are not obvious at birth or may come with confusing, non-descript symptoms. The truth is that some families search for more than ten years for the correct diagnosis, which often translates to irreversible damage or even death for pediatric patients. It is essential to find these babies and ensure that they live their healthiest life by receiving the care they need as early as possible.

Georgia’s Story | Newborn Screening | Pompe Disease

When Georgia was first born, her mom Kari was like most moms. She didn’t really know anything about newborn screening. Georgia was identified with Infantile Onset Pompe disease following screening in Missouri. In Kari’s words, find out what newborn screening means for Georgia and her family.

Not ‘Just Interns’

At Baebies, we recruit interns who work on real business cases. Our interns don’t file papers or make coffee runs. They assist in research and development to help more babies have a healthy start.

“Our interns contribute to research projects that lead to commercialized products,” said Lisa Nelson, Senior Scientist at Baebies and direct manager to several current interns. “Similar to hiring staff, we look for interns who are intellectually curious,  self-driven, and passionate about research. These qualities are essential to our mission to save lives, and make lives better for millions of children.”

This summer we have 8 interns who are actively working on the expansion of our assay pipeline and on new product FINDER (currently under development).

Legislative Wins for Newborns including North Carolina, Colorado

In 2018, Baebies supported advocacy efforts for expanded newborn screening, especially efforts that sought to make the process of adding conditions to states’ menus more efficient. We have also been closely tracking legislative activity across the United States, including 55 bills introduced this year that impacted newborn screening in some way. Baebies especially appreciated the win for newborns in our own home state of North Carolina where a new approach to keeping at parity with the Recommended Uniform Screening Panel (RUSP) was passed.

Baebies Supports Recommendation for Expanded Newborn Screening in NC

At Baebies, our mission drives us to support the acceleration of expanding newborn screening wherever and whenever possible. Baebies was mentioned in a recent report generated by the North Carolina Advisory Council on Rare Diseases called, “Newborn Screening and Early Intervention for the Treatment of Rare Diseases: A Win-Win for Children with Rare Diseases and North Carolina.” North Carolina pioneered universal screening of newborns using tandem mass spectrometry for metabolic disorders, developed at Duke University by Prof. David Millington (Baebies Advisor). The report, published earlier this year, highlights the ecosystem in NC comprising academia (Duke and UNC), non-profit (Research Triangle Institute), and industry (Baebies) that can drive innovations in newborn screening with significant impact for babies around the world.