Faced with the dilemma of an ever-expanding community of patients with genetic metabolic disease and a growing critical shortage of specialized expertise, stakeholders in the metabolic community are aware of the countless numbers of patients with inborn errors of metabolism who are undiagnosed or misdiagnosed.

Newborn screening programs can identify as many as 50+ metabolic diseases, yet there are over 1000 disorders that can be diagnosed, thus the urgent need for an expansion of clinical expertise. A particular tragedy of this situation is the fact that a significant percentage of these disorders are treatable (and over 90 of these cause intellectual disability*), but the vast majority of patients worldwide are not diagnosed and so cannot access potentially life-changing therapy.

Now, with the creation of the GMCE, clinicians globally can access on-demand expertise to diagnose these disorders and improve the quality of medical care for these patients.


The concept of GMCE occurred in 2007, when Dr. Mark Korson, then Chief of the Metabolism Service at the Floating Hospital for Children at Tufts Medical Center in Boston, Dr. Gerard Vockley, Chief of Medical Genetics at Children’s Hospital of Pittsburgh, and Dr. Jean-Marie Saudubray, Honorary Professor of Pediatrics and Senior Metabolic Consultant in Paris, co-founded the North American Metabolic Academy (NAMA). NAMA, presented by the Society of Inherited Metabolic Disorders, functions as the primary teaching forum about metabolic disease for genetic residents in North America.

With NAMA established to focus on teaching genetic trainees, there remained a critical need to educate non-genetic medical professionals, which led to the creation of GMCE’s predecessor, the Metabolic Outreach Service (MOS), based out of Tufts Medical Center in Boston, funded jointly by corporate and private financial support.

Dr. Korson directed the MOS until 2011, providing consultative and educational metabolic services to several major teaching hospitals and medical schools in the northeastern United States. The programming included a mix of workshops and lectures, patient presentations, and consultations.

In 2012, Drs. Korson and Vockley affirmed their commitment to address the challenge of a growing shortage of metabolic expertise. This became the inspiration and foundation for GMCE. With a mission to improve access to quality care for children and adults with inborn errors of metabolism, GMCE is dedicated to developing practical, symptom-based, and specialty-relevant services and programs for all members of the metabolic community.

To create a global healthcare resource, the doctors partnered with an angel financing and management firm, the Private Investor and Advisory Group (PIAG), to provide the capital and business expertise to implement and operate a worldwide educational and clinical services entity. In early 2015, GMCE was formed with Dr. Korson as its Medical Director, Joe Ogrodnik as its Executive Director, and a Metabolic Advisory Board comprised of Drs. Vockley and Saudubray, and 15 other geneticists and genetic professionals from around the world.

*van Karnebeek CDM, Stockler-Ipsiroglu S. Pediatr Child Health 2014;19(9):469-71.