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Gabor Bethlendy

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Matching Newborns to Rare Therapeutics

Posted by Gabor Bethlendy

Jan 14, 2015 4:02:31 PM


INTRODUCTION:

While many people have heard about Newborn Screening I imagine few have heard about neonatal diagnostics.  That's because most are waiting for the costs of next gen sequencing to come down before population wide "screening" could begin at an affordable rate since screening is paid for from public funds.  

Here is a video that shows you how we could do this now and not get stuck focused on the costs;


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Pressure BioSciences to Develop Front-end Sample Preparation for Parabase Genomics’ Targeted Next Generation Sequencing Testing Platform

Posted by Gabor Bethlendy

Jul 22, 2014 12:58:00 PM

Initial Target of the Parabase Sequencing Service are the Neonatal Intensive Care Units of U.S. Hospitals with a Goal of Improving the Early Diagnosis of Genetic Diseases   

South Easton, MA, July 22, 2014 – Pressure BioSciences, Inc. (OTCQB: PBIO) (“PBI” or the “Company”) and Parabase Genomics (“Parabase”), (together “the companies”), today announced they have entered into a strategic research and development agreement (the “collaboration”). Under the terms of the collaboration, PBI will develop a front-end, sample preparation method for Parabase’s enhanced neonatal molecular diagnostics and newborn confirmatory testing process. The sample preparation method will be based on PBI’s patented and enabling Pressure Cycling Technology (“PCT”) platform.

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When the Target Market is Right, Prognosis for Diagnostic Start-Ups is Bright

Posted by Gabor Bethlendy

Mar 27, 2014 10:49:00 PM

Contributors:

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Limitations of Hearing Loss Testing in Newborns

Posted by Gabor Bethlendy

Mar 7, 2014 12:33:30 AM

Newborn hearing screening has positively affected childhood developmental outcomes. However, limitations remain, including;

Hearing_Loss_Baby_Table_Grey_Pencil
  • high false positive and negative rates of detection for progressive and late onset deafness
  • multi-tiered testing is routinely required as symptoms develop
  • there is no focus on differentiating non-genetic causes, genetic predisposition to ototoxic drugs, and genetic causes of hearing loss.

Molecular genetic testing could address these weaknesses by providing a specific diagnosis not dependent on phenotype and not requiring confirmatory follow-up testing.

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Newborn Screening Primer

Posted by Gabor Bethlendy

Mar 6, 2014 10:48:00 PM

As we continue this series of posts on Newborn related topics we thought it makes sense to cover at a high level the history of Newborn Screening and hint at some of the challenges we face moving the field to the next stage of catching these disorders. Many fo these challenges will be covered in follow-up posts in greater detail.

BloodSpotBaby

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The Next Generation In Neonatal Diagnostics and Newborn Confirmatory Testing.

Posted by Gabor Bethlendy

Feb 18, 2014 12:24:00 AM

This is the first in a series of posts where we will emphasize the importance of timely testing for inherited genetic disorders in neonatal intensive care units (NICUs), confirmatory testing labs as well as metabolic and hearing loss clinics. We believe that a targeted next-generation sequencing panel is the best way to achieve this goal. Specifically topics will include neonatal diagnostics, newborn screening, confirmatory testing, non-invasive methods for sample collection (dried blood spots), our database of rare variants and mitigating reimbursement risks. Just to name a few.

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