News and Events : 2013 : December

Miller School Medical Geneticist Elected to National PKU Alliance Board of Directors

A Miller School faculty member was elected to serve on the National PKU Alliance (NPKUA) Board of Directors. Olaf Bodamer, M.D., Ph.D., FACMG, FAAP, Clinical Professor in the Dr. John T. Macdonald Foundation Department of Human Genetics and Medical Director of the Division of Clinical and Translational Genetics, will serve on the Board beginning in January, 2014.

Phenylketonuria (PKU) is a rare inherited metabolic disorder that, if left untreated, can lead to serious neurological complications. The NPKUA was established in 2008 to improve the lives of families and individuals with PKU through research, support, education, and advocacy. It has since become one of the largest national patient support groups for genetic conditions.

PKU is the fist genetic condition included in newborn screening, which celebrated its 50th anniversary this year. All states in the US currently screen for 35+ different conditions with additional conditions currently under consideration. Dr. Bodamer, who has been director of the Austrian National Newborn Screening Program for many years, has been instrumental in expanding the Austrian Program to a level compatible with the United States. As a dedicated physician scientist he feels very compassionate about early diagnosis and treatment to prevent long-term complications and allow the family to make informed decisions about future pregnancies due to the increased recurrence risk. Dr. Bodamer is one of the Principle Investigators for a phase III trial for enzyme replacement therapy for PKU.

Dr. Bodamer will serve on the NPKUA Board of Directors, comprised of medical professionals, industry representatives, adults with PKU, and parents of children with PKU. “This is truly an honor to serve on this prestigious board and to help make a difference in the lives of individuals with PKU,” stated Dr. Bodamer.

“The NPKU will benefit greatly by having Dr. Bodamer join their distinguished Board. I have dealt with this group, and its leadership, in different ways for many years. Their membership is comprised of the thought leaders in this field, and by having established scientists like Dr. Bodamer as Board Members, their advocacy is always informed by the very best science,” said R. Rodney Howell, M.D., professor and chair emeritus of pediatrics at the Miller School.

“Dr. Bodamer’s appointment is also a reflection of the rapidly growing status of the biochemical genetics work done in the Department of Human Genetics, which recently led to the designation as the sole confirmatory reference lab for newborn screening in the State of Florida,” remarked Stephan Züchner, M.D., Ph.D., Professor and interim Chair for the Dr. John T. Macdonald Foundation Department of Human Genetics.