Join us for an AROUND THE WORLD IN A DAY virtual event experience.

Program Highlights 

At this years Global PKU Patient Conference you will have access to upcoming research from around the world in the Research Showcase. You'll be able to talk to researchers about their important projects one-on-one, listen to presentations about the research and browse various resources.

Americas Program

Dr. Desirée White

One of the showcase stands that will be featured will be from Professor of Psychological & Brain Sciences and Professor of Pediatrics (School of Medicine), Dr. Desirée White. Dr. White's research is on 'validating cognitive tests that can be used to evaluate new treatments for PKU.' Dr. White's research can be found here

Dr. Amir Zarrinpar

Our Research Showcase will feature different researchers including NPKUA funded researcher Dr. Amir Zarrinpar from the University of California, San Diego. Dr. Zarrinpar's research is on the 'Engineering bacteria in the gut microbiome to treat PKU'. To read more about this topic click here

Dr. Erik Koppes

As part of the Global PKU Patient Conference Showcase post-doctoral research fellow in the Division of Medical Genetics at the UPMC Children's Hospital of Pittsburgh, Dr. Erik Koppes will be featured. Dr. Koppes research is on the 'Development of a PKU swine animal model'. He is the recipient of a NPKUA fellowship to develop, characterise and assess genome-edited animal and cell model systems to better understand and treat PKU. 

Asia Pacific Program

Dr. Michel Tchan

As part of the Asia Pacific program, Dr. Michel Tchan will be presenting on 'Advanced Neuroimaging in PKU'. He's presentation with be about the advanced techniques in MRI that have the potential to inform us further about the impact of PKU on the brain. His work describes a number of studies they have performed looking at what we can learn using these techniques. Dr. Tchan is a clinical and metabolic geneticist looking after adults with genetic disorders and inborn errors of metabolism. Dr. Tchan is currently the Head of Department, Genetic Medicine at Westmead Hospital in Sydney, and a senior lecturer at the University of Sydney. He is currently responsible for the NSW Adult Genetic Metabolic Disorders Clinic. His research interests include clinical aspects of lysosomal storage disorders, the neurological consequences of phenylketonuria in adults, and clinical trials of novel therapies for genetic disorders.

Prof. John Christodoulou

Prof. Christodoulou is a Director at the Murdoch Children's Research Institute and will be presenting on the topic of the 'Development of a Genetically Modified Probiotic for the Treatment of Phenylketonuria'. This presentation will be about his pilot project developing an alternate approach to treatment, namely the development of a novel genetically modified probiotic containing a phenylalanine metabolising enzyme. He hypothesises that when this probiotic is delivered to the gut, it could break down dietary phenylalanine before it is absorbed into the bloodstream, allowing relaxation of dietary protein restriction. 

Dr. Minal Menezes

We are excited to announce that Senior lecturer at University of Sydney, Australia and leader of the PKU research at the Kid Research and Children's Hospital Westmead, Dr. Minal Menezes will be presenting as a part of the Asia Pacific program. Dr. Menezes will be presenting on the "High-throughput screening of potential therapy targets for protein metabolism disorders". Hear from Dr. Menezes of where the research is at including recent updates and future plans. 

Prof. Mark Walterfang

Hear from experts in their field including Adult Psychiatrist and Neuropsychiatrist, Prof. Mark Walterfang. Prof. Walterfang is a consultant psychiatrist working at Neuropsychiatry, Royal Melbourne Hospital. He is involved with managing psychiatric aspects of a range of disorders including PKU. At the Global PKU Patient Conference he will be presenting on the 'Cognitive, psychiatric and neuroimaging changes in adult PKU patients returning to diet'. 

Europe Program

Caring for the Late Diagnosed

Caring for the untreated and late diagnosed PKU patients will be a topic explored in depth during our Global PKU Patient Conference - during our European hosted session. This will feature a number of insightful and interesting conversations and presentations surrounding the topic, as we hear from leading experts such as Prof. Dr. Anita MacDonald from Birmingham and many more experts from across Europe. Topics featured include: 

  • Late Diagnosed and Untreated PKU: A scientific & families perspective 
  • The forgotten children of the model disease in paediatrics
  • Introducing the PKU diet in an untreated PKU patient
  • Caring for a late diagnosed PKU patient in a public nursing: Challenges & Opportunities
  • and more soon to be announced! 

Roberto Gramingnoli

We are excited to announce that Senior lecturer from the Karolinska Institute, Roberto Gramingnoli will be a part of the Research Showcase at the 2021 Global PKU Patient Conference. Gramignoli will be presenting on the research topic 'Cell therapies for PKU: from Hepatocyte Transplantation to Immunosuppression-free Placenta Stem Cells'. During this showcase he will summarise and present all the results on cell-based therapies his group achieved during the past years. Moving from hepatocyte transplantation (in patients affected by different inborn errors of metabolism, PKU included) to epithelial stem cells isolated from full term human placenta. 

The Inaugural PKU Global Patient Conference - Inspired by a great legacy!

The legacy of Prof Horst Bickel provides inspiration on the past present and future of PKU care globally. Tune in to our global conference to learn more about this life changing legacy and join us on our 'Around the World in a Day' virtual journey to understand how PKU care has progressed across the globe and how together as a connected global community we can ensure all people living with PKU, despite their origin, will be able to reach their full potential.