CONFERENCE PRESENTATIONS AND VIDEOS
Friday, July 11th
Welcome and NPKUA Update
Christine S. Brown, Executive Director NPKUA
Christine Brown welcomes attendees to the 2014 NPKUA Conference and recaps the NPKUA's accomplishments.
View The Welcome Video...> Coming soon
Opening Keynote: The Power of Rare Disease Community
Ronald J. Bartek, FARA
Ron Bartek founded the Friedreich's Ataxia Alliance with his wife Raychel after their son, Keith, was diagnosed with this rare disease at age 11 to forge a research alliance that would achieve treatments and a cure for Friedreich's Ataxia. The Alliance includes research scientists from around the world and is engaged in full-court press to slow, stop and reverse the damage done by Friedreich's ataxia.
Medical and Dietary Guidelines for PKU
Cary Harding, MD, FACMG and Kathleen Huntington, RD, LD, Oregon Health and Sciences University
Earlier this year, the first-ever specific medical and dietary guidelines for the treatment of PKU were released by the American College of Medical Genetics and Genomics and Genetic Metabolic Dietitians International. The guidelines represent a tremendous step forward in ensuring that all patients receive the highest quality of care and treatment in the management of their PKU. This presentation will focus on the key recommendations of the guidelines and what they mean for you.
The Effects of PKU on Gray Matter Structures in the Brain
Dr. Shawn Christ, University of Missouri
The most widely-reported neurologic finding in individuals with early-treated PKU is abnormality in the white matter connections of the brain. In contrast, much less is known regarding the impact of early-treated PKU on gray matter structures in the brain. The presentation will highlight recent findings on PKU and the brain, with particular attention paid to current research using advanced neuroimaging techniques to examine effects on cortical gray matter and other brain structures such as basal ganglia and cerebellum.
Artificial Organ System Encapsulating HegG2 Cells
Dr. Donna Santillan, University of Iowa Hospitals and Clinics
The aim of this research is to find long-term, non-dietary method to treat PKU. Dr. Santillan's work focuses on therapy to prevent maternal PKU syndrome as well as inherent differences in the effectiveness of therapy between males and female. The research utilizes microspheres to encapsulate liver cells, protecting them from the immune system. These cells then act as an artificial organ to process phenylalanine. She tests this artificial organ system using the PAHenu2 mouse model of PKU and has found that this system can reduce phenylalanine and restore differences in metabolic activities in PKU affected mice.
Non-Physiological Amino Acid (NPAA) Therapy in Phenylketonuria
Dr. K. Michael Gibson, WA State University
Dr. Gibson's research examines the ability of non-physiological amino acids (NPAAs) to lower the brain phe levels and thereby restore brain amino acid equilibrium. The NPAAs inhibit the shuttle systems that move large neutral amino acids (including phenylalanine) from blood into the brain. Dr. Gibson's experiments examined the capacity of NPAAs to maximally restrict entry of phenylalanine into the brain of PKU mice, while minimally altering the entry of other large neutral amino acids. Successful outcomes in these experiments may lead to a totally novel therapy for PKU.
Liberalization of Dietary Restrictions: LNAA Supplementation in PKU Mice
Dr. Eddy A. van der Zee, University of Groningen
LNAA supplementation may liberalize the dietary restrictions for PKU patients. Elevated blood phenylalanine concentrations correlate with cognitive dysfunction in untreated PKU. The transport of phenylalanine from blood to brain via transporter proteins in assumed to play a central role.The phenylalanine transporter also facilitates (in a competitive way) transport of other large neutral amino acids (LNAA). Hence, supplementation of LNAA other than phenylalanine may shift amino acid transport way from phenylalanine and may restore a healthy balance between phenylalanine and other LNAA in brain Dr. van der Zee's research will therefore investigate the effects of LNAA supplementation in the brain of PKU Mice.