NATIONAL PKU ALLIANCE ANNOUNCES RECIPIENTS OF FIRST RESEARCH GRANTS AND FELLOWSHIP

Dr. Harvey Levy, Dr. Denise Ney, and Dr. Roberto Gramignoli to expand understanding

of PKU and its effects, paving the way for new treatments

Dallas, TX – January 18, 2010 – The National PKU Alliance (NPKUA), the only national organization dedicated to supporting those affected by the genetic disorder phenylketonuria (PKU), announced the recipients of its first research grants and postdoctoral fellowship at its inaugural conference in Dallas. Roberto Gramignoli, D.Sc., will explore the viability of using transplanted liver cells to treat PKU as the first NPKUA fellow; Harvey L. Levy, M.D., received funding for a study of children born to women with PKU; Denise M. Ney, Ph.D., will examine how whey protein affects bone development in mice with PKU.

“The NPKUA received even more high-quality research proposals than we expected in our first year,” said  Dick Michaux, Chairman on the National PKU Alliance. “The PKU community is fortunate to have so many talented, dedicated researchers working to improve the understanding of this disorder and developing new treatment options.”

Postdoctoral Fellowship

Dr. Gramignoli is the first recipient of the NPKUA Fellowship Program to encourage bright post-doctoral and medical researchers to pursue careers in PKU and other metabolic diseases.  Dr. Gramignoli is a Visiting Scholar in the Department of Pathology at the University of Pittsburgh School of Medicine, which is internationally renowned in the field of liver and hepatocyte transplantation. He will use his fellowship to research the applicability of cell transplantation for PKU. Hepatocyte transplantation has been successfully used to treat other metabolic disorders, but its efficacy in treating PKU has not been studied.

Research Grants

Dr. Levy, Professor of Pediatrics at Harvard Medical School and Senior Physician in Medicine/Genetics at Children’s Hospital Boston, will conduct a study entitled “Maternal PKU: Offspring Follow-Up and Maternal Nutritional and Psychological Status.”  This project will examine the health and well being of women with maternal PKU and their offspring.

Dr. Ney, Professor in the Department of Nutritional Sciences at the University of Wisconsin-Madison, will conduct a study entitled, “Does Dietary Glycomacropeptide Improve Bone Development in PKU Mice?”  Glycomacropeptide is a whey protein that contains only small amounts of phenylalanine, the amino acid that must be limited in diets of individuals with PKU. Bone loss is a potential side effect of the traditional PKU diet, which includes very little whole protein.

NPKUA Research Selection Process

The overall funding strategy of the NPKUA is to support projects that will promote advances in the treatment and management of PKU, with the long term goal of facilitating the development of a cure. The NPKUA has established a Scientific Advisory Board made up of eminently qualified doctors, researchers and clinicians who are leaders in their  fields to evaluate proposals.

“The creation of the NPKUA Scientific Advisory Board ensures that the PKU community’s funds will go to support the most promising, rigorous research in the field,” said Scientific Advisory Board President, Dr. Tom Franklin. “These proposals have been thoroughly vetted by scientists and clinicians who are familiar with the current state of PKU research and recognize opportunities for advancement.”

Grants and fellowships are awarded on an annual basis. 
     

About PKU

PKU, or phenylketonuria (pronounced fen-il-Key-to-New-ree-uh) is a lifelong genetic disorder in which a deficient enzyme prevents the body from metabolizing an essential amino acid, called Phenylalanine (Phe), which is found in most foods, including meat, bread, eggs, dairy, nuts and some fruits and vegetables.  When left untreated, PKU patients who consume too much Phe are at risk for severe neurological complications, including IQ loss, memory loss, concentration problems, mood disorders, and in some cases, severe mental retardation.  PKU affects approximately 13,000 people in the U.S. and 50,000 people worldwide.

To manage their disorder and avoid neurological complications, PKU patients must reduce their blood Phe levels by adhering to a Phe-restricted diet, which requires patients to monitor their daily intake.  A Phe-restricted diet is supplemented with medical foods and specially produced low-protein foods.

About the National PKU Alliance

Established in 2008, the National PKU Alliance is a coalition of the many local, state and regional organizations that support PKU families. The National PKU Alliance is dedicated to improving the lives of individuals and families affected by PKU, through research, education, support and advocacy, while ultimately seeking a cure.

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FULL BIOGRAPHIES, GRANT ABSTRACTS AND PHOTOS AVILABLE UPON REQUEST