= Emerging. More than 5 years before clinical availability. |
= Expected to be clinically available in 1 to 4 years. |
= Clinically available now. |
Topic: Small Molecules
Authors: David S. Millington
|
||
Short Abstract Inspired by a clinician’s account of a child rescued from near death by a revolutionary therapeutic intervention, the author applied chemistry and mass spectrometry to solve an analytical challenge that led to the first front-line diagnostic test performed by tandem mass spectrometry (MSMS) – the analysis of acylcarnitines to recognize and diagnose inherited disorders of fatty acid and branched-chain amino acid catabolism. By applying this method to dried blood spots and adding an additional analytical component to include several essential amino acids, a novel multiplex assay was developed to screen newborns for over 30 inherited metabolic conditions with a single test. The introduction of this method into public health systems and hospitals across the world during the past 20 years has literally revolutionized neonatal screening; new technology is being introduced to add more value. |
||
Long Abstract Not provided. |
||
References & Acknowledgements:
|
Description | Y/N | Source |
Grants | no | |
Salary | no | |
Board Member | yes | Science Advisory Board, Baebies, Inc. |
Stock | yes | Baebies, Inc |
Expenses | no |
IP Royalty: no
Planning to mention or discuss specific products or technology of the company(ies) listed above: | yes |