2014 NACB Annual Meeting Activities
Sunday, July 27
NACB Awardees are honored.
Tuesday—Thursday, July 29-July 31
NACB Distinguished Abstracts
Tuesday, July 29
Afternoon Symposia: A Celebration of 50 Years of Newborn Screening for Metabolic Disorders
Session Overview: This session will discuss the progression of newborn screening from detecting only a single disorder to the recognition of multiple diseases today resulting from mass spectrometric advances. The improved clinical outcomes of babies born with these disorders will be discussed. The concept of genomic screening will be presented as a window to the future.
Needs Assessment: Screening for metabolic diseases represents the first blood test that almost all newborns receive in all US States and many countries. As a result of advances in mass spectrometry, twenty nine metabolic disorders (out of a total of over 500 known inherited disorders of metabolism) are routinely screened in the entire population. This allows for early, pre-symptomatic initiation of treatment, which (for many of the disorders) results in greatly improved clinical outcomes such as prevention of infant death and devastating neurological damage. There is global interest in expanding newborn screening programs to include additional conditions. The National Institutes of Health are currently evaluating the potential for redirecting the diagnostic algorithm for screening using next generation genomic analysis. This session addresses the evolution of newborn screening and defines how the field will change with advances in genomic technology.
Expected Outcome: After attending this session, participants will be able to: 1) explain the transition of newborn screening from its early history to the present state; 2) describe how expanded newborn screening profiles fit the needs of clinicians and genetic counselors and improve the lives of children diagnosed with metabolic diseases; 3) educate colleagues on how the field will change as new genomic techniques become commonly used; and 4) better consult with clinicians on the proper uses of newborn screening within their institution or state.
Michael Bennett, PhD, University of Pennsylvania and Children's Hospital of Philadelphia, Moderator
The Legacy of Robert Guthrie. From Bacterial Inhibition to Tandem Mass Spectrometry
Jerry Vockley, MD, PhD, University of Pittsburgh School of Medicine
Clinical Success and Lessons Learned from Expanded Newborn Screening for Metabolic Diseases
Neal Sondheimer, MD, PhD, University of Pennsylvania/ Children's Hospital of Philadelphia
Newborn Screening for Metabolic Diseases in the Era of Genomic Analysis
Wednesday, July 30
12:30pm – 2:15pm
NACB Awards Luncheon and Membership Meeting
Hyatt Regency Chicago
Wednesday, July 31
2:30pm – 5:00pm
Oral poster presentations selected by the Annual Meeting Organizing Committee and NACB
Houston Convention Center