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Wrong Erik Puffenberger?

Erik G. Puffenberger

Laboratory Director

Clinic

HQ Phone:  (717) 687-9407

Email: e***@***.org

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I agree to the Terms of Service and Privacy Policy. I understand that I will receive a subscription to ZoomInfo Community Edition at no charge in exchange for downloading and installing the ZoomInfo Contact Contributor utility which, among other features, involves sharing my business contacts as well as headers and signature blocks from emails that I receive.

Clinic

535 Bunker Hill Road

Strasburg, Pennsylvania,17579

United States

Company Description

The Clinic operates as an independent, non-profit organization governed by a board of directors and supported through fees for services,proceeds from annual community-sponsored benefit auctions, and private contributions from individuals, organizations, and fo...more

Background Information

Employment History

Population Geneticist and Molecular Biologist

Aravenda Chakravarti


Research Associate

Johns Hopkins University


Web References(51 Total References)


What the Amish can teach the rest of us about modern medicine | Mosaic

mosaicscience.com [cached]

"A lot of folks think genetic testing is very expensive and can't be done," says Erik Puffenberger.
"We've shown just the opposite. He's the lab director of the Clinic for Special Children in Pennsylvania. In a 2012 report in a scientific journal, Puffenberger and colleagues estimated that the pioneering genetics work at the clinic saves local Plain communities $20-25 million a year in medical costs. The clinic was established as a non-profit in 1989 by Caroline and Holmes Morton. Holmes had graduated from Harvard Medical School and then completed a fellowship at the Children's Hospital of Philadelphia, where he had helped identify 16 Amish children with a genetic disorder known as GA1, short for glutaric aciduria type 1 (one of the metabolic diseases tested for in newborns using a heel prick). Says Puffenberger: "What's really important here is if you find one gene, then you learn a pathway, and you know that gene interacts with 10 other things, so those other 10 genes also become potential targets" for therapy.


Arizona Biotech News: January 2008 - BioTech News at Arizona Biotech - Arizona Biotechnology News

www.arizonabiotech.com [cached]

According to Dr. Erik Puffenberger, Laboratory Director of the Clinic for Special Children, "Our previous finding of association between loss of CNTNAP2 function and autistic behavior has been validated in the general population.


Press Releases Archives - Cypher Genomics

cyphergenomics.com [cached]

"A validated automated solution to interpret our genomic data will enable us to return results to more patients than we otherwise could with our current methods, which are both time and labor intensive," said Dr. Erik Puffenberger, Laboratory Director, Clinic for Special Children.
"These types of false positives have been a problem for us," said Dr. Puffenberger.


www.sandiegometro.com

"A validated automated solution to interpret our genomic data will enable us to return results to more patients than we otherwise could with our current methods, which are both time and labor intensive," said Erik Puffenberger, laboratory director at the Clinic for Special Children.


Cypher Genomics and Clinic for Special Children Collaborate on Rare Disease Study - Cypher Genomics

cyphergenomics.com [cached]

"A validated automated solution to interpret our genomic data will enable us to return results to more patients than we otherwise could with our current methods, which are both time and labor intensive," said Dr. Erik Puffenberger, Laboratory Director, Clinic for Special Children.
"These types of false positives have been a problem for us," said Dr. Puffenberger.


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