Center for Translational Genetics
The Center for Translational Genetics was established at MPHI in 2015. The mission of this Center is to improve access to and quality of services for individuals with inherited conditions and their families. Currently the Center for Translational Genetics houses three projects focused on family engagement and translating genetics research into practice with funding from health Resources and Patient Centered Outcomes Research Institute (PCORI).
Meet the Leadership
Cynthia Cameron, PhD
Sr. PH Strategist/Leadership Consultant
Mat Edick, PhD
Jane Pilditch, MPA
Sr. Project Coordinator
Projects, Resources, & Publications
Recent IBEMC Publications
- An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC).
- Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.
- 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
- Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
- Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency – Report from the Inborn Errors of Metabolism Information System.
- Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions.