Inborn Errors of Metabolism Collaborative

Newborn blood spot screening is a critical public health responsibility. Babies are screened with the hope that early diagnosis and treatment will be a good investment of public resources for the babies, their families, and for society. Although some health benefits are clear, for most newborn-screened disorders there is no long-term assessment of outcomes. To know that screening is effective in improving outcomes, we need to follow a screened baby's progress.

The Inborn Errors of Metabolism Collaborative (IBEMC) systematically collects information about the clinical progress of people that have conditions identified by newborn screening, focusing on inborn errors of metabolism. Data are used to learn about their survival, medical status, and long-term outcomes; and permit development of evidence-based practice in patient care.

Our Partners

NBSTRN logo Heartland logo NYMAC logo Region 4 Genetics Collaborative logo Mountain States Genetic Collaborative logo South Eastern Region Collaborative logo

What’s New

IBEM-IS has passed the 1,800 subject mark!
As of March 19, 2015 1,863 subjects representing 41 conditions have data entered into the IBEM-IS. Of those 1,863, 1,284 were identified by NBS. Hyperphe/PKU has the largest number of enrollees (444) closely followed by MCAD (332), Biotinidase (200) and Galactosemia (176). Four other conditions, VLCAD (90), SCAD (63), PROP (61) and MSUD (55), have data entered for more than 50 subjects.

Important Dates

  • Quarterly Reports for quarter ending 02.28.2015 are due no later than 03.31.2015
  • IBEMC Telemeeting is April 17, 2015 from 2:00 – 3:00 EDT
  • NBSTRN February Newsletter
  • Journals that we can submit to – if you have any other suggestion please contact Sally/Melissa
  • ACMG Annual Clinical Genetics Meeting is March 24-28, 2015 in Salt Lake City, UT
    Abstract and Speaker Submission closed
  • American Society of Human Genetics Annual Meeting is October 6 – 10, in Baltimore, MD
    Submission of Abstracts will be open from April, 2015 through June 11, 2015
    Proposals for sessions and workshops can be submitted from today until December 5, 2014
  • National Society of Genetic Counselors Annual Education Conference is October 21 – 24, 2015 in Pittsburg, PA
    Submission of Abstracts will be open from February 16, 2015 through Thursday, May 14, 2015 at 11:59 pm CT
    Speakers can apply today until Monday, January 19, 2015
  • AAP National Conference and Exhibition is October 24 – 27, 2015 in Washington, DC
    Information on Abstracts and Speakers will be updated as it becomes available.