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Maggie’s Story | MPS I | Importance of Newborn Screening
(Updated 9/19/2019 with video.) Today is International MPS Awareness Day. We are featuring the story of an MPS I family to help raise awareness and bring light to the importance of newborn screening for this rare disorder. Meet Tracy Rose and her daughter Maggie who live in Chapel Hill, NC. Maggie was clinically diagnosed with MPS I last year just after her first birthday. Learn more in our interview with Tracy.
BlogNewborn Screening in Qatar: Interview with Dr. Skrinska
Baebies interviewed Dr. Skrinska to learn more about newborn screening (NBS) in Qatar, implementation of lysosomal storage disorder screening, and what’s next for NBS.
BlogThe Faces of Newborn Screening
Newborn screening is one of the country’s most successful public health programs. And who do we have to thank? State newborn screening program staff. The lab managers, scientists, geneticists and others who dedicate their careers to giving babies a healthy start.
BlogGlobal Expansion of Newborn Screening: Interview with Dr. Therrell
Baebies reached out to Dr. Bradford Therrell for his view on the current status of global newborn screening. Read our interview and find out how you can meet Dr. Therrell and the Baebies team at the upcoming International Society for Neonatal Screening (ISNS) meeting.
BlogSupport Life-Saving Newborn Screening Act
Congress is currently considering the Newborn Screening Saves Lives Reauthorization Act of 2019, which continues and expands support for one of our country's most successful public health programs. One of our co-founders provides an update and why this piece of legislation is so important to the continued success of newborn screening and healthy beginnings for 4 million babies born each year.
BlogComprehensive, Near Patient Hyperbilirubinemia Testing in Newborns Using Low Blood Volume
Neonatal jaundice is a common condition that can lead to severe hyperbilirubinemia and kernicterus if not treated promptly. Comprehensive determination of hyperbilirubinemia risk requires testing for multiple analytes, including total serum bilirubin (TSB), albumin and glucose-6-phosphate dehydrogenase (G6PD), which currently are performed separately.
PosterAddressing Punch Conservation with Digital Microfluidics
As public health newborn screening (NBS) programs expand, there is growing concern that the standard volume of dried blood spots (DBSs) collected from each newborn may not be sufficient to perform all screening tests. Digital microfluidics fluorometry (DMF) technology addresses this issue.
BlogCelebrating Moms on the Heels of National Women’s Health Week
Today is International MPS Awareness Day. We are featuring the story of an MPS I family to help raise awareness and bring light to the importance of newborn screening for this rare disorder. Meet Tracy Rose and her daughter Maggie who live in Chapel Hill, NC. Maggie was clinically diagnosed with MPS I last year just after her first birthday. Learn more in our interview with Tracy.
BlogComparison of Newborn Screening Platforms for Lysosomal Storage Disorders
As newborn screening (NBS) programs expand to include lysosomal storage disorders (LSDs), prospective results from active LSD screening programs can be used to compare the performance of available screening methodologies. Two FDA-cleared platforms are currently available for LSD enzyme testing from dried blood spot specimens – tandem mass spectrometry (MS/MS) and digital microfluidic fluorometry (DMF). The emerging clinical results reflect the real world performance of each platform and should be considered alongside the associated costs (equipment, maintenance, personnel, etc.) and workflow of each platform to determine the best fit for each NBS laboratory.
PosterDevelopment of a Creatine Kinase Assay Coupled with Targeted NGS to Screen Newborns and Infants for DMD & Congenital Muscular
Early diagnosis of Duchenne Muscular Dystrophy (DMD) and other congenital muscular dystrophies (CMD) is essential for preventing permanent muscle damage. View poster from Muscular Dystrophy Association 2019 Clinical and Scientific Conference 2019.
PosterInnovate Session Review: Baebies Team, Second Tier Testing Service & Assay Pipeline
View the presentation agenda including an introduction to the Baebies team, presentation from genetics expert Dr. Richard Parad on how second tier genetic sequencing compares to second tier biochemical testing. Learn how our assay pipeline expansion supports future RUSP conditions.
BlogA Qualitative, Multiplexed Real-Time PCR Screen for Rapid Detection of cCMV Enabling Timely Intervention
Congenital cytomegalovirus (cCMV) infection in newborns can lead to permanent hearing loss and developmental delays if left untreated. Baebies’ Qualitative PCR Assay for cCMV was developed and validated in-house to provide timely and accurate identification of infected babies, facilitating early intervention.
PosterBaebies is Global
Expecting families in Qatar will soon have access to screen their babies for lysosomal storage disorders (LSDs) including Pompe disease, MPS I, Fabry and Gaucher. Qatar’s newborn screening lab is getting up and running with Baebies SEEKER, the first FDA-cleared and CE-marked newborn screening platform for LSDs.
AnnouncementDevelopment of a Supplemental Newborn Screening Approach that Complements State Public Health Programs for Treatable Conditions
The poster describes a targeted next generation sequencing (tNGS) development of a comprehensive, high-throughput, Supplemental Newborn Screening approach that complements State Public Health programs for treatable conditions. The test is part of the Eli Screening Panel and 2nd Tier confirmatory test from a positive biochemical screen.
PosterRare 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.
BlogSecond Tier Genetic Sequencing
Second tier testing helps reduce false positive results for newborn screening programs. Second tier genetic sequencing is a good mechanism to understand the baby’s specific case because it can provide genotype differentiated data to improve the quality of referrals and promptly inform treatment decisions. Baebies now offers second tier sequencing in our CLIA-certified for lysosomal storage disorders including Pompe disease and MPS I.
BlogLab 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.
BlogFounders’ 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?
BlogFalse 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.
BlogNewborn 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.
BlogGeorgia’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.
BlogCureDuchenne Partners with Baebies to Accelerate Newborn Screening for Duchenne Muscular Dystrophy
CureDuchenne, the nation’s leading nonprofit funding scientific research and innovation for Duchenne muscular dystrophy, announced today it has entered into a three-year partnership with Baebies. A growth-stage company, Baebies is delivering innovative products and services for newborn screening and pediatric testing. As a result of CureDuchenne’s investment and partnership, Baebies will add Duchenne muscular dystrophy, the most common and lethal form of muscular dystrophy that primarily affects young boys, to its expanded newborn screening service. CureDuchenne’s partnership with Baebies, along with the large National Institutes of Health SBIR grant awarded to the organization earlier this year, will significantly advance the identification of newborns with Duchenne muscular dystrophy.
Press ReleaseSEEKER | Workflow
Watch the lab workflow of Baebies SEEKER, an innovative FDA authorized and CE marked newborn screening platform for lysosomal storage disorders.
VideoNot ‘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).
BlogLegislative 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.
BlogCurrent State of the Art of Newborn Screening for Lysosomal Storage Disorders
As part of a special issue from the International Journal on Neonatal Screening, Drs. Millington and Bali review the development of newborn screening for LSDs and provide an objective comparison of the two technologies currently available for high throughput, multiplexed screening.
PublicationIncidence of 4 Lysosomal Storage Disorders from 4 Years of Newborn Screening
The Missouri State Public Health Laboratory (MSPHL) recently published findings on incidence rates from 4 years of full population newborn screening for Pompe, MPS I, Gaucher and Fabry lysosomal storage disorders (LSDs) using the digital microfluidic platform SEEKER. The Missouri program is the longest-running prospective and un-blinded newborn screening and follow-up study of LSDs in the United States. In the first 4 years of LSD screening, the MSPHL identified 133 newborns who were confirmed through diagnostic testing to have one of the four LSDs. The incidence rates for Pompe and Fabry found in Missouri correlate well with results from Taiwan but are higher than recently reported incidence rates in Illinois. Incidence rates for Gaucher and MPS I correlate well to other pilot studies. The MSPHL has not identified any missed LSD cases to date.
PublicationCelebrating Shipment of 3,000,000th Test!
Baebies is celebrating the shipment of more than 3 million tests which translates to more than 3 million chances for a healthy start. We proudly share this milestone and our growth with babies everywhere.
AnnouncementElectrowetting Droplet Operations on a Digital Microfluidic Cartridge
Simple droplet operations of dispensing from a reagent reservoir, droplet transport across electrodes, merging two droplets into a larger combined droplet, mixing the combined droplet, and splitting the droplet are accomplished by strategically applying voltages to electrodes on the cartridge printed circuit board.
VideoBaebies 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.
BlogUnderstanding Enzyme Assays for Lysosomal Storage Disorders – The Influence of Substrate Concentration and Incubation Time (Part IV)
The fourth and final white paper in our series reviews several concepts of enzyme assays for lysosomal storage disorders (LSDs). To wrap up the series, Baebies examines all the factors that determine enzyme activity and highlights how enzyme assays can be performed with shorter incubation times without incurring additional cost or compromising assay performance. This is especially significant in the case of newborn screening of Pompe disease, where timely intervention results in better outcomes for the patients.
White PaperEnzymatic Functional Assays of Coagulation Using Small Sample Volumes
This study demonstrates the feasibility of using lower sample volumes for testing coagulation markers of enzymatic functional assays on a microfluidic cartridge.
PublicationUnderstanding Enzyme Assays for Lysosomal Storage Disorders – Integration of X-linked Adrenoleukodystrophy and SEEKER Workflows for Same-Day Referrals (Part III)
The recent additions of two lysosomal storage disorders (Pompe and MPS I) and a peroxisomal metabolic disorder (X-ALD) to the RUSP have led several labs to discuss adding these disorders to their screening panels. Our “Understanding Enzyme Assays for Lysosomal Storage Disorders” white paper series has examined key differences between enzymatic versus metabolic assays on digital microfluidics (FDA authorized) or tandem mass spectrometry (MS/MS) platforms. The series continues with a focus on the different screening methods for LSDs and X-ALD and how to optimize laboratory workflows when adding X-ALD.
White PaperUnderstanding Enzyme Assays for Lysosomal Storage Disorders – How to Measure Product Formation (Part II)
Enzyme assays for lysosomal storage disorders (LSDs) are performed by using either digital microfluidics (FDA authorized) or tandem mass spectrometry (MS/MS) platforms. Part 1 of the “Understanding Enzyme Assays for Lysosomal Storage Disorders” series outlines the difference between natural and artificial substrates and how they are deployed on each platform. Although MS/MS platforms are often already installed in most labs for metabolic assays, key differences in assay protocols and workflows need to be evaluated to examine if it would be feasible to share the equipment. Part 2 of this series explains this further and examines the time it takes for each method workflow, including the steps and equipment necessary.
White PaperBaebies Announces Completion of $10 Million Series B Financing
Baebies, a growth-stage company that delivers innovative products and services for newborn screening and pediatric testing, today announced that it has secured $10 million in Series B financing in an oversubscribed round anchored by BOE Technology Group Co., Ltd. BOE is a global leader in semiconductor display industry as well as an IoT company providing intelligent interface products and services for information interaction and human health. Baebies also received funding from family offices, with continued support from current investors and the North Carolina Biotechnology Center.
Press ReleaseUnderstanding Enzyme Assays for Lysosomal Storage Disorders – Synthetic Substrates (Part I)
High throughput testing of multiple lysosomal storage disorders (LSDs) from dried blood spots can be performed using digital microfluidics (FDA authorized) or tandem mass spectrometry. Although both methods use “artificial” substrates to perform enzymatic reactions, digital microfluidics runs each reaction at its optimal pH. Download this free white paper to learn key differences between natural and artificial substrates for LSD assays and how they are deployed on each platform.
White PaperWhat is Infantile Onset Pompe Disease vs. Late Onset Pompe Disease? Baebies interviews Dr. Priya Kishnani
In our discussions with state public health laboratories, Baebies has observed confusion and ambiguity on the difference between Infantile Onset Pompe disease and Late Onset Pompe disease. We interviewed world-renowned expert on Pompe disease, Dr. Priya Kishnani, to disseminate insights into the clinical manifestations of Infantile Onset Pompe disease and Late Onset Pompe disease and to elucidate the significance of newborn screening for Pompe disease to public health laboratories who may be interested in adding Pompe disease to their screening panels. Dr. Kishnani is Division Chief of Medical Genetics and Director of the Y.T. and Alice Chen Pediatric Genetics and Genomics Research Center at Duke University Medical Center (DUMC). She also serves as Director of the Lysosomal Storage Disease Program, Biochemical Genetics Training Program and Metabolic Clinic at DUMC.
White PaperBaebies Announces Partnership with Trivitron’s Labsystems Diagnostics to Bring Latest Technologies to Newborn Screening Worldwide
Baebies, a company focused on advancing newborn screening and pediatric testing, today announced that it has signed a bilateral distribution agreement with Trivitron’s Labsystems Diagnostics Oy to deliver a wider range of newborn screening solutions across several global markets. Baebies will distribute Labsystems’ newborn screening products in the U.S. after obtaining regulatory clearance, while Labsystems will distribute Baebies’ SEEKER® platform internationally; SEEKER is FDA authorized and CE marked. SEEKER is a high throughput laboratory solution for newborn screening and is currently configured to perform testing for certain lysosomal storage diseases.
Press ReleaseSEEKER | Days Matter
Baebies SEEKER is an innovative FDA authorized newborn screening platform for lysosomal storage disorders. With SEEKER, time from punch to referral can be as little as one day! Earlier detection and referral can lead to earlier treatment and can dramatically improve the baby's outcome.
VideoSEEKER | No Maintenance
Baebies SEEKER is an innovative FDA authorized newborn screening platform for lysosomal storage disorders. SEEKER is a product you can count on from day one, requiring no daily maintenance or upkeep!
VideoSEEKER | Ease of Use
Baebies SEEKER is an innovative FDA authorized newborn screening platform for lysosomal storage disorders. SEEKER's ease of use can simplify the newborn screening process in your lab. If you can pipette, you can use SEEKER!
VideoSEEKER | Simple Installation
Baebies SEEKER is an innovative FDA authorized newborn screening platform for lysosomal storage disorders. SEEKER installs easily into your newborn screening lab, requiring no renovations or additional equipment. Simply plug it in!
VideoSEEKER | Introduction
Introduction video for SEEKER, an innovative FDA authorized newborn screening platform for lysosomal storage disorders. SEEKER is the ideal solution to empower your newborn screening lab and integrates easily into your workflow.
VideoNewborn Screening Legislation Expands Test Panels in Several US States
Missouri will be the first state in the US to screen for mucopolysaccharidosis II (MPS II), otherwise known as Hunter syndrome and spinal muscular atrophy (SMA), two life threatening genetic diseases. The state is already screening for several LSDs using the SEEKER platform. Florida recently passed legislation that requires the Advisory Council to consider every condition added to the RUSP within 1 year, and if recommended, the NBS lab would be required to screen for that condition within 18 months.
AnnouncementBaebies Announces CE Mark for SEEKER, an Innovative Newborn Screening Platform for Lysosomal Storage Diseases
Baebies is pleased to announce that SEEKER, a high throughput newborn screening laboratory solution, now has CE Mark and available in Europe and other countries that recognize CE Mark. SEEKER quantitatively measures the activity of lysosomal enzymes from newborn dried blood spot specimens. Reduced activity of these enzymes may be indicative of Mucopolysaccharidosis Type I (MPS I), Pompe, Gaucher or Fabry disease.
Press ReleaseResponse to Gelb et al: “Comparison of tandem mass spectrometry to fluorometry for newborn screening of LSDs”
Dr. Millington refutes further misinformation regarding the application of ‘equivalent cutoffs’ to prospective NBS data, misleading comparisons of MS/MS and fluorometry GAA testing methods and the effect of preanalytical variability on LSD NBS results.
PublicationThe Nonequivalent “Equivalent Cutoff”
Newborn screening of lysosomal storage disorders (LSDs) can be performed using different methods, workflows, screening algorithms, assay protocols, reagents/kits and instruments, all of which impact the output of the test. “Equivalent cutoff” has been proposed as a method to normalize screening results across LSD screening platforms. In this white paper, we review the validity of the recently proposed “equivalent cutoff” and the critical shortcomings in the effectiveness of this idea, including how it ignores the cardinal rule of newborn screening: to minimize the chance of a false negative result.
White PaperAnalytical Range is a Poor Metric for Comparing Newborn Screening Assay Performance
A major goal of any newborn screening laboratory is to adopt screening methods that best identify those at-risk for a particular disorder. Although the term analytical range has recently been presented as a metric for method performance comparison for newborn screening of lysosomal storage disorders, it is a poor comparator of assay platforms. Download our free white paper to learn why Z-factor is the superior metric over analytical range when comparing newborn screening assay performance.
White PaperMisinformation regarding tandem mass spectrometric vs fluorometric assays to screen newborns for LSDs
Dr. David Millington, pioneer of expanded newborn screening, and Dr. Deeksha Bali, expert in LSD diagnostic methods, address persistent misinformation regarding current methods for newborn screening of LSDs.
PublicationBaebies Completes First Close on Series B Financing
Baebies, Inc., a company focused on advancing newborn screening and pediatric testing, announced today it has completed a $5 million first close on its Series B financing. The company plans to raise an additional $5 million in the coming months. Baebies received clearance from the U.S. Food and Drug Administration (FDA) for its SEEKER newborn screening system earlier this month.
Press ReleaseBaebies Receives FDA de novo Clearance for First Lysosomal Storage Disease Newborn Screening Platform, SEEKER
Baebies, Inc., a company focused on advancing newborn screening and pediatric testing, announced today it has received de novo clearance from the U.S. Food and Drug Administration (FDA) for SEEKER. SEEKER quantitatively measures the activity of lysosomal enzymes α-L-iduronidase (IDUA), α-D-glucosidase (GAA), β-glucocerebrosidase (GBA) and α-D-galactosidase A (GLA) from newborn dried blood spot specimens. Reduced activity of these enzymes may be indicative of lysosomal storage diseases (LSDs) Mucopolysaccharidosis Type I (MPS I), Pompe, Gaucher or Fabry, respectively.
Press ReleaseBaebies Advisor Priya Kishnani Named 2016 Rare Disease Hero in Lysosomal Storage Disorders
Baebies congratulates Duke's Priya Kishnani, MD, PhD, who currently serves on the company's Advisory Board, on being named one of the 2016 Rare Disease Heroes. The first annual Rare Disease Hero Recognition Gala, held on October 17 honors five healthcare institutions and their medical teams for outstanding contributions in the rare disease community.
AnnouncementFDA Advisors Back Approval of Baebies’ SEEKER Analyzer for Newborns
An FDA advisory committee unanimously agreed that Baebies’ Seeker analyzer should be approved to detect lysosomal enzymes in newborns. The Clinical Chemistry and Toxicology Devices Panel had originally expressed concerns about false positives and negatives associated with the diagnostic test, but it ultimately decided that the benefits outweighed the risk and the Instruction for Use statement could indicate the limitations. Baebies is seeking a de novo classification for the system, which includes the Seeker analyzer, the Seeker 4-plex assay kit, Seeker cartridges, the Spot Logic software and quality control materials. The diagnostic uses digital microfluidic technology to measure lysosomal enzymes associated with Mucopolysaccharidosis Type 1 disease, Pompe disease, Gaucher disease and Fabry disease.
AnnouncementPompe Disease and the Missouri LSD NBS Experience
Tomi Toler, a Genetic Counselor, discusses her experience working with families and children diagnosed with Lysosomal Storage Disorders (LSDs) at Children's Hospital St. Louis, which serves as a referral site for babies identified through Newborn Screening (NBS). This webinar from 2016 includes an overview of the history of LSD screening in Missouri, demographics for identified cases, referral protocols for each condition, and treatment options for LSDs.
WebinarBaebies to Exhibit and Display FINDER Prototype at 2016 AACC Annual Scientific Meeting
Baebies, Inc., a company focused on advancing newborn screening and pediatric testing, today announced that the company will exhibit and display a prototype of FINDER at the 68th AACC Annual Scientific Meeting and Clinical Lab Expo. FINDER, currently under development, is a small, innovative and connected testing solution that uses a tiny blood sample to quickly perform time critical pediatric tests.
Press ReleaseBaebies Appoints Former Medtronic CEO and Illumina Ventures Founding Partner to Its Board of Directors
Baebies, Inc., a company focused on advancing newborn screening and pediatric testing, today announced that William A. Hawkins and Nicholas Naclerio, PhD have joined the company’s Board of Directors effective immediately. Mr. Hawkins is the retired Chairman and CEO of Medtronic, a world-renowned innovative medical technology company. Dr. Naclerio is the Founding Partner of Illumina Ventures, an early stage venture capital firm strategically aligned with Illumina, Inc.
Press ReleaseRichard West honored with CEO of the Year Award
Richard West, CEO of Baebies, Inc was awarded with the 2016 Life Sciences CEO of the Year Award from Triangle Business Journal. The Triangle Business Journal hosted the 2016 Life Sciences Awards on Thursday, May 26, 2016 in Cary, North Carolina. The Life Sciences Awards recognize both individuals and research organizations that are breaking ground in this field. There are more than 600 life sciences companies in North Carolina, and the majority of them are either headquartered or have a significant presence in the Triangle, according to Triangle Business Journal.
AnnouncementVery Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes
This collaborative study out of Taiwan compared the impact of very early (by 10 days of age) to early (by 1 month of age) initiation of enzyme replacement therapy on long-term health outcomes in patients with infantile onset Pompe disease (IOPD), a lysosomal storage disorder. The authors conclude that starting enzyme replacement therapy just a few days earlier may improve long-term outcomes for IOPD patients.
PublicationPoint-of-Care Quantitative Measure of Glucose-6 Phosphate Dehydrogenase Enzyme Deficiency
This report demonstrated the feasibility of measuring glucose-6-phosphate dehydrogenase (G6PD) enzyme activity via the digital microfluidic platform for point-of-care newborn screening.
PublicationBaebies, Inc. Raises $13 Million in Oversubscribed Round of Financing
Baebies, Inc. today announced the completion of a round of equity financing totaling $13 million. The oversubscribed round of financing included key investors Rex Health Ventures, DUMAC, LLC (managers of the Duke endowment), Cunning Capital, Triad, LLC, the Duke Angel Network and a loan from the North Carolina Biotechnology Center. Many of Advanced Liquid Logic’s (ALL) former investors including Charleston Angel Partners, and Baebies’ executive team, also invested.
Press ReleasePompe Positive – What’s Next?
Dr. Priya Kishnani, advocate and expert on Pompe Disease, summarizes the diverse clinical presentations of both the infantile and late-onset of Pompe Disease. Her webinar also accentuates the significant difference that early screening and diagnosis can make in a patient's outcome.
WebinarPompe Disease – Clinical Outcomes
In this webinar, Dr. Priya Kishnani, Professor of Pediatrics and Chief of the Division of Medical Genetics at Duke, emphasizes the necessity to identify Pompe Disease early through NBS (newborn screening). Dr. Kishnani mentions the significant benefits to beginning ERT (enzyme replacement therapy) as soon as possible and how responsiveness to therapy changes with age and severity of condition onset.
WebinarLysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri
The first ever published study of prospective newborn screening for lysosomal storage disorders in the U.S. highlights the results from the first 6 months of newborn screening in Missouri for Pompe, Gaucher, Fabry and MPS I.
PublicationNovel application of digital microfluidics for the detection of biotinidase deficiency in newborns
To demonstrate that different assays can be performed on the same digital microfluidic cartridge, this study demonstrated feasibility of performing an enzyme assay for biotinidase deficiency on the same cartridge used for detecting enzyme activity of lysosomal storage disorders.
PublicationRapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics
As a follow-up to previous research, this study demonstrated feasibility of performing enzyme activity assays for Gaucher and Hurler diseases using digital microfluidics.
PublicationMultiplex Newborn Screening for Pompe, Fabry, Hunter, Gaucher, and Hurler Diseases Using a Digital Microfluidic Platform
This report describes the feasibility of performing a multiplex assay using digital microfluidic technology to screen for lysosomal storage disorders.
PublicationNovel microfluidic platform for automated lab-on-chip testing of hypercoagulability panel
The feasibility of performing immunoassays on a digital microfluidic cartridge was demonstrated on coagulation factors associated with hypercoagulability risk.
PublicationDigital Microfluidic Platform for Multiplexing Enzyme Assays: Implications for Lysosomal Storage Disease Screening in Newborns
This study was one of the first published that demonstrated feasibility of using the digital microfluidic fluorimetric assays to test enzyme activity of lysosomal storage disorders (specifically Pompe and Fabry).
PublicationDigital Microfluidics: A Future Technology in the Newborn Screening Laboratory?
In this review, Dr. Millington provides a basic overview of the digital microfluidic technology and a review of the assays relevant to newborn screening.
PublicationEarly Detection of Pompe Disease by Newborn Screening is Feasible
This seminal paper from Taiwan was the first large-scale study to show feasibility of newborn screening for the lysosomal storage disorder Pompe disease. These results formed the basis for the now widespread use of acid α-glucosidase (GAA) enzyme activity measurement for Pompe newborn screening.
Publication