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.
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.
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.
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.
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.
As a follow-up to previous research, this study demonstrated feasibility of performing enzyme activity assays for Gaucher and Hurler diseases using digital microfluidics.
This report describes the feasibility of performing a multiplex assay using digital microfluidic technology to screen for lysosomal storage disorders.
The feasibility of performing immunoassays on a digital microfluidic cartridge was demonstrated on coagulation factors associated with hypercoagulability risk.
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).
In this review, Dr. Millington provides a basic overview of the digital microfluidic technology and a review of the assays relevant to newborn screening.