Jane Breck, MD, FAAP, Research Projects

With a focus on developing improved methods to transition adolescents with phenylketonuria (PKU) to more self-sufficient care as adults, Jane Breck, MD, FAAP, successfully competed for a grant from the New York–Mid-Atlantic Consortium for Genetics and Newborn Screening Services. This two-year project to explore the use of the internet and social networking to provide up-to-date clinical information to this group of patients and encourage them to be more engaged in their care has been completed. Dr. Breck presented the results of that research at a national PKU conference in Baltimore, Md. The final phase of this project in 2012 involved an event presenting methods to transition adolescents with PKU to college in conjunction with college personnel experienced in counseling students with chronic conditions.

Dr. Breck also is involved in the recruitment and preparation of PKU patients for several other research grants. These include the use of hepatocyte transplant for the treatment of metabolic diseases, the use of enzyme-replacement therapy (Peg-Pal) to treat PKU with alternative nondietary treatment, and a study to evaluate the neuropsychological effects in addition to the biochemical effect of a PKU medication, sapropterin (Kuvan).

As a research co-investigator, Dr. Breck works with Steven F. Dobrowolski, PhD, as he studies the DNA gene mutations of the many patients who attend PKU Clinic and develops an understanding of effects of gene interaction on various responses to PKU treatment as well as develops a gene database.

Dr. Breck’s teaching activities include precepting medical students, lecturing graduate students, and interacting with pediatric residents who rotate through an elective in Genetic and Genomic Medicine. Dr. Breck also is active in welcoming genetic counseling students and post-doctorate fellows to observe and participate in PKU Clinic.