Rare Disease Day: Why Screen Newborns for Disease

Vamsee Pamula, PhD, Founder of Baebies, Newborn Screening and Pediatric Testing

Posted 2/28/2019 by Vamsee Pamula, PhD, co-founder and President

Today is Rare Disease Day. Around the world, organizations are raising awareness for the rare disease community. A disease or disorder is defined as rare in the United States when it affects fewer than 200,000 Americans at any given time. The National Institutes of Health estimates that 25-30 million Americans are living with a rare disease. This estimate highlights that while individual diseases may be rare, the total number of people with a rare disease is large (almost 10% of the population have a rare disease). Over 7,000 rare diseases have been identified; and according to EURORDIS Rare Diseases Europe, over 50% of rare diseases affect children.

Newborn Screening for Lysosomal Storage Diseases

Our mission at Baebies is to identify all diseases, including rare diseases, through newborn screening for which such testing would improve the outcomes. We launched our first product with screening for lysosomal storage diseases.

What are lysosomal storage diseases (LSDs)?

Lysosomal storage diseases (LSDs) are inherited disorders that are characterized by lack of specific enzymes to break down sugars and fats. The buildup of excess fats and sugars affects different parts of the body, including the skeleton, brain, skin, heart, and central nervous system. The National Organization for Rare Disorders (NORD) cites that there are nearly 50 lysosomal storage disorders.

Although the individual diseases are rare, the group together affects many people around the world. Since the state of Missouri began testing for LSDs (MPS I, Pompe, Gaucher, Fabry, and Krabbe), the estimated frequency through almost 450,000 births has been approximately one in 2,390 live births.

While there currently is no cure for LSDs, there is treatment available that can greatly improve the quality of life for some of the LSDs. Enzyme replacement therapy has been approved by the FDA for several LSDs including Pompe, MPS I, Gaucher and Fabry.

Why screen newborns for LSDs?

Symptoms of LSDs do not show until the disease has already made significant progression; even then, because these disorders are individually rare, it can be difficult to identify, leading the family on a search for the correct diagnosis. Therapy cannot reverse damage that has already occurred while clinical diagnosis is getting delayed.

Newborn screening for lysosomal storage disorders enables early diagnosis and early initiation of treatment, which can improve the quality of life and possibly save the life. Treatment gives the child the best chance at life; the earlier treatment can be started, the better the expected outcome. This is especially true for certain LSDs. For instance, infantile-onset Pompe disease, if untreated, can lead to death from heart failure in the first year of life.

Pompe and MPS I are on the Recommended Uniform Screening Panel (RUSP) to be added to state public health newborn screening programs. Gaucher and Fabry are not currently on the RUSP, but are being screened in certain states and countries.

Why use digital microfluidics for newborn screening of LSDs?

Newborn screening for various disorders, including LSDs, can be performed by digital microfluidics fluorometry (DMF) technology. Digital microfluidics enables tiny droplets to be discretely moved anywhere within a network of connecting electrodes through automated fluid manipulations for simple or complex droplet operations. Many of the DMF technology inventors are on the Baebies team. Baebies’ digital microfluidics technology is protected by more than a hundred patents.

Prof. David Millington at Duke University, who pioneered application of tandem mass spectrometry in newborn screening, initially identified the potential of DMF as a solution for newborn screening for LSDs. For a technology to be suitable for newborn screening, the test must utilize small sample volume and be performed at a low total cost. Unlike the complexity of mass spectrometry, DMF is easy to install and used with no maintenance. Additionally, it offers automation and a small footprint which provides workflow efficiency and reduced instrument cost, respectively.

Baebies uses digital microfluidics to power SEEKER, the first FDA-cleared test for lysosomal storage disorders. SEEKER is currently used for screening newborns in six states. We are actively seeking opportunities to bring the benefits of SEEKER to newborns around the world, particularly to populations in which LSDs are more prevalent than in the United States.

In addition to expanding the reach of LSD screening, we are developing tests for other rare diseases, providing screening services direct to families and hospitals, and working with industry partners to advance newborn screening and pediatric testing. These expanded offerings further fulfill our mission:

The Baebies mission is to save lives and make lives better for millions of children by bringing new technologies, new tests and new hope to parents and healthcare professionals worldwide.

We look forward to a day when newborn screening for manageable rare diseases is routine.

You can show your support for our mission and participate in raising awareness on Rare Disease Day. Share this post on newborn screening for lysosomal storage disorders via social media, or simply forward to a friend or colleague.

Help spread the word!

Rare Disease Day 2019 - Baebies Team - Show Your Stripes - Newborn Screening

Members of the Baebies team are wearing stripes in support of
Rare Disease Day - #ShowYourStripes with NORD