Matching Newborns to Rare Therapeutics

Posted by Gabor Bethlendy

Jan 14, 2015 4:02:31 PM


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;




Rapid - done in one week. Less invasive - uses a dried blood spot. Symptamology independent - physicians no-longer depend on a severe phenotype to catch a case. Personalized Medicine- for inherited disorders.

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It is now possible to obtain a fast diagnosis on hard to recognize newborn disorders in one week. This method is not symptamology dependend and provides a match to existing approved rare drugs. It reduces the time from symtom onset to diagnosis and treatment to weeks rather than years!

Why are NICUs not using such a test? 

Download MPS-7 Case