Library

Papers and posters we have presented in the past.

Decoding the unique medical needs of the Amish | Kevin Strauss | TEDxLancaster
Decoding the unique medical needs of the Amish | Kevin Strauss | TEDxLancaster

Kevin Strauss, a medical doctor in rural Lancaster County, explains how groundbreaking research done by his clinic in the field of genomic medicine is helping Amish patients that share unique medical needs. This research is already improving the quality of life for his patients.

Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next Generation DNA Sequencing

Genetic testing is routinely used for second-tier confirmation of newborn sequencing results to rule out false positives and to confirm diagnoses in newborns undergoing inpatient and outpatient care. We developed a targeted next generation sequencing panel coupled with a variant processing pipeline and demonstrated utility and performance benchmarks across multiple newborn disease presentations in a retrospective clinical study.

Comprehensive Targeted Next Generation Sequencing for Neonatal Hearing Loss Diagnosis and Screening
ACMG Poster 2014

Each year approximately 8,000 children in the USA are born with hearing loss requiring special services, representing an incidence 10-times higher than most metabolic disorders, such as PKU, routinely included in mandatory newborn screening programs. Early auditory stimulation is critical yet the current hearing loss screening process can result in half of newborns who fail screening tests to be lost to follow-up. Current audiometric screening does not provide genetic etiology and single gene sequencing, used to compliment audiometry, is costly, non-comprehensive, time consuming and impractical, requiring a large blood sample not easily obtained safely from an infant...

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Using Targeted Next Generation Sequencing for Diagnosis and Screening in Newborns
ASHG 2013 Poster

Newborns are disproportionately affected by rare monogenic diseases including hearing loss, inborn errors of metabolism, and lysosomal storage disorders. A diagnosis is critical in order to begin treatment early and prevent mortality or lifelong debilitation. Unfortunately, the current tests for newborns are limited in scope and scalability. Diagnostic confirmation by serial single-gene testing is time consuming and expensive and often used as a last resort, which can result in reducing the treatment window and increasing the risk of long term effects...

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