John Adams was elected as Chair of the Board of Directors in 2017 and served as a Board member since 2015 and Treasurer since 2016. He has an adult son with PKU, a rare genetic disorder, and is the President, Chief Executive Officer and co-founder of Canadian PKU and Allied Disorders. He is also the volunteer co-chair of the Disability Tax Fairness Alliance, which focuses on ensuring the fair administration of the disability tax credit by the Canada Revenue Agency. John is a published author on policies related to newborn screening for specific inherited conditions, as well as principles of good governance applied to health technology assessment. In addition, he is a past member of the Board of Directors of the Canadian Organization of Rare Disorders. John is a seasoned management consultant and has worked as a Globe and Mail reporter, chief of staff to an Ontario Cabinet Minister, and was elected to Toronto City Council three times.

Professor Ian Alexander BMedSci MBBS (Hons) PhD FRACP (Paeds) HGSA Clinical Geneticist, FAHMS, Director Laboratory Research and Senior Staff Specialist, The Children’s Hospital at Westmead, Professor in Paediatrics and Molecular Medicine, University of Sydney — is Head of the Gene Therapy Research Unit, a joint initiative of Children’s Medical Research Institute and The Children’s Hospital at Westmead (CHW). Within the Hospital he holds appointments as a senior staff specialist and as the Director of Laboratory Research. He is Professor in Paediatrics and Molecular Medicine in the Discipline of Child and Adolescent Health at the University of Sydney and an Honorary Consultant in Clinical Genetics at Westmead Hospital. His training and day-to-day activities in both clinical medicine and laboratory research reflect his interest in translating research progress into improved health outcomes for children. After Professor Alexander completed specialty training in paediatrics at Prince of Wales Children’s Hospital, he obtained a PhD in Molecular Biology from the Garvan Institute in Sydney, before completing clinical genetics training at the Murdoch Institute in Melbourne. He then undertook postdoctoral studies at the Fred Hutchinson Cancer Research Centre in Seattle before returning to Australia to take up his current position. Professor Alexander has since established a translational research program and developed the specialised infrastructure and skill sets required to take promising novel therapies through to clinical application. His specific expertise and interests include virus-mediated gene transfer with a focus on target organs including the liver and bone marrow, both of which have immense promise as target organs for the treatment of genetic disease in children. His team became the first in Australia to treat a genetic disease (SCID-X1) by gene therapy and are recognised leaders in the establishment of this exciting field in Australia. Professor Alexander chaired the NHMRC Cellular Therapies Advisory Committee (CTAC). In addition, he helped establish the Australasian Gene Therapy Society, was elected as the inaugural president and was made a life member in 2009. His international recognition extends to positions as Chair of the International Committee of the American Society of Gene and Cell Therapy, Australasian Regional Editor of Current Gene Therapy and Associate Editor for Human Gene Therapy and The Journal of Gene Medicine. In 2015 he was appointed as a Fellow of the Australian Academy of Health and Medical Sciences and a Visiting Professor at University College London.

Christine Brown is the Executive Director of the National PKU Alliance. She has led the organization since 2009. Christine has more than 25 years of experience in building and leading non-profit organizations at the local, state, national and international level. Her background includes working in health care policy, rural economic development, domestic violence, and human rights. She has extensive experience in management, Board development and strategic planning, advocacy, fundraising, grassroots organizing and public relations. Christine received her BA in Global Peace and Justice Studies from St. Norbert College in DePere, WI and her MS in Organizational Management and Leadership from Springfield College in Springfield, MA. Christine is a member of the Wisconsin Newborn Screening Committee, the FDA’s Patient Engagement Collaborative, a mentor in the Chan Zuckerberg Rare as One Initiative, and has co-authored several articles on the patient voice in public advocacy and drug development. Christine lives in Eau Claire, WI with her husband, Kevin and sons Keagan, Connor (PKU) and Kellen (PKU).

This years Platinum sponsor Biomarin are hosting a symposium on 'Why Phe still matters: Changing the view on PKU in the brain'. The symposium will feature two presentations from experts in their fields. First, hear from Barbara K. Burton who is the Professor of Pediatrics (Genetics, Birth Defects and Metabolism) at the Ann & Robert H. Lurie Children's Hospital, Northwestern University, on the topic 'How PKU impacts patients' lives and Phe lowering as the key to improving neurocognitive outcomes'. You'll also have the opportunity to hear from Shawn Christ, Associate Professor of Clinical Neuropsychology at the University of Missouri, on the topic of 'The relationship of Phe with brain changes and cognitive performance'. Thank you again to Biomarin for being a Platinum sponsor and hosting this symposium.

This years Platinum sponsor Biomarin are hosting a symposium on 'Why Phe still matters: Changing the view on PKU in the brain'. The symposium will feature two presentations from experts in their fields. First, hear from Barbara K. Burton who is the Professor of Pediatrics (Genetics, Birth Defects and Metabolism) at the Ann & Robert H. Lurie Children's Hospital, Northwestern University, on the topic 'How PKU impacts patients' lives and Phe lowering as the key to improving neurocognitive outcomes'. You'll also have the opportunity to hear from Shawn Christ, Associate Professor of Clinical Neuropsychology at the University of Missouri, on the topic of 'The relationship of Phe with brain changes and cognitive performance'. Thank you again to Biomarin for being a Platinum sponsor and hosting this symposium.

We are excited to announce that one of the speakers during the Asia Pacific hosted part of the 2021 Global PKU Patient Conference will be 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 hypothesizes that when this probiotic is delivered to the gut, it could break down dietary phenylalanine before it is absorbed into the bloodstream, potentially allowing relaxation of dietary protein restriction.

Monique is the President of the Metabolic Dietary Disorders Association (MDDA) and Co-Founding Trustee of the Global Association for PKU (GAP). Based in Melbourne Australia, Monique has an 11 year old son Charlie with PKU and is a passionate and very active advocate and supporter for people living with PKU. As a professional events manager and marketing executive, Monique has spearheaded the creation of our first event global PKU patient conference and along with her team at gener8 events will be hosting and delivering this event virtually to its global audience. Through holding this conference, Monique along with her fellow GAP trustees hope to provide a virtual event platform and experience that;

• Unifies our PKU voice globally for broader access to diagnosis, treatment and care
• Discovers and supports new PKU patient support groups
• Facilitates greater scientific global PKU collaborations

Monique is forever hopeful of a brighter future for her son Charlie, where one day he may live free from the burden of his disease.

Joining the Americas Program is Prof. Veronica Cornejo who has been working with PKU since 30 years ago at the Institute of Nutrition and Food Technology of the Universidad de Chile. Prof. Cornejo will be presenting on the topic 'Nutritional Educational Strategies in Chile'. The presentation will be about the experience in monitoring PKU, its metabolic control, compliance with diet, nutritional education used and results in the growth and development of the Chilean PKU cohort will be presented. Prof. Cornejo will be a part of the great lineup of presentations from PKU experts from across the world!

• Fellow of the Royal Australasian College of Physicians, Consultant Physician in General Medicine & Metabolic Physician, with a PhD in Biochemistry.
• Head of the Victorian and Tasmanian service for adults with inborn errors of metabolism, located at the Royal Melbourne Hospital, Parkville, Victoria, Australia.
• Head of the Division of General, Acute & Emergency Medicine at Waitemata District Health Board, Auckland, New Zealand.
• Husband to a brilliant, multitalented wife, father of 4 children, grandfather to 3 grandchildren, respectful and grateful son with my 4 siblings to incessantly hard working, dedicated parents.
• Marginally useful farmhand at evenings and weekends in support of my wife who skillfully runs our small farm, keen cyclist and offshore sailor.

Professor Maria Giżewska graduated from and works at the Pomeranian Medical University in Szczecin, Poland. She started at the Department of Biochemistry and in 1987 she joined the Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology where she is a Vice-Head of the Department. She has a specializa-tion in general pediatrics and pediatric metabolism and is a consultant on inborn errors of metabolism for the Re-gion of West Pomerania, Poland. From the mid-nineties, her researches are focused on early diagnosis and treatment of patients with different types of inborn errors of metabolism, including phenylketonuria. In the last few years she has been involved in the devel-opment of the first European Guidelines on the Diagnosis and Management of Phenylketonuria. Doctor Giżewska is the author of over 100 publications in both Polish and international journals on inborn errors of metabolism, general pediatrics, pediatric endocrinology, neurology and genetics. She was trained in Denmark, Italy, Great Britain, Qatar, USA and Japan. Phenylketonuria and other inborn errors of metabolism were the subjects of her lectures given in many European countries, USA, Asia, Australia and the Middle East. Since 2011 she closely co-operates with University of Greifswald and recently with Medical University Charitè in Berlin, Germany in the im-plementation of the UE projects dedicated to creating a trans-border, Polish-German newborn screening centre. She is a member of SSIEM, ISNS, Polish Pediatric Societies, Polish Society of Pediatric Endocrinology and Polish So-ciety of Inborn Errors of Metabolism. Doctor Giżewska is also a vice-chairman of Polish Society of Phenylketonuria and a vice-chairman of Scientific Advisory Committee the ESPKU.

We are excited to announce that joining the Europe Program for the 2021 Global PKU Patient Conference, will be Prof. Dr. Maria Giżewska. Prof. Dr. Giżewska works in the Dept. of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology at the Pomeranian Medical University in Szczecin. From the mid-nineties, her researches are focused on early diagnosis and treatment of patients with different types of inborn errors of metabolism. including PKU. In the last few years she has been involved in the development of the first European Guidelines on the Diagnosis and Management of Phenylketonuria. For the Global PKU Patient Conference, Prof. Dr. Giżewska will be presenting on the topic 'Late Diagnosed and Untreated PKU - A Scientific Perspective'.

My primary interest has always been to investigate new, advanced cellular treatments for acute or congenital liver disorders, from development and preclinical validation, up to clinical translation. Our group dedicated efforts in the advancement of cell-based therapies for liver diseases, with hepatocyte transplantation as first effective option (to solid organ transplantation), recently fol-lowed by promising preclinical and clinical results using perinatal stem cells isolated from full term human placenta. We have solid data suggesting that, although not the patient’s own cells, our pla-centa-derived stem cells are safe and able to survive long-term without patient's immunosuppression.

We are excited to announce that senior researcher from the Karolinska Institute, Roberto Gramignoli 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.

Sara Guillen-Lopez is a metabolic dietitian that has been working in the field for 12 years, she also works as a medical researcher at the National Institute of Pediatrics in Mexico City, she has published more than 30 research papers at national and international journals and has been invited as a speaker in more than 50 congresses and meetings.

Cary O. Harding, MD, FACMG is Professor of Molecular and Medical Genetics and Pediatrics at Oregon Health & Science University (OHSU). He received his medical degree from the University of Washington followed by pediat-ric and medical genetics training at the University of Wisconsin-Madison. He is board certified in Clinical Genetics and Clinical Biochemical Genetics. Dr. Harding is a founding fellow of the American College of Medical Genetics and Genomics (ACMGG) and a member of the American Society for Cell and Gene Therapy (ASGCT). He is the treasurer of the Society for Inherited Metabolic Disorders (SIMD). He is an attending physician on the OHSU clinical genetics service as well as in the metabolic clinic at Doernbecher Children’s Hospital. He is the Medical Director of the Bio-chemical Genetics Lab at OHSU. He is also a clinical consultant to the Northwest Regional Newborn Screening Pro-gram and to the State of Idaho Genetics Program. He serves as the chair of the Scientific Advisory Board for the National PKU Alliance (NPKUA) and is the Project Director for the NIH-funded PHEFREE Rare Disorders Consortium focused upon disorders associated with hyperphenylalaninemia. Dr. Harding’s basic and clinical research programs are focused upon the development of novel therapies, including gene and cell therapies, for inborn errors of me-tabolism.

Presenting as apart of the Americas Program during the 2021 Global PKU Patient Conference will be Professor of Molecular and Medical Genetics and Pediatrics at Oregon Health & Science University, Prof. Cary Harding. Prof. Harding presentation topic will be on the 'Update on Gene Therapy and Gene Editing for PKU'. It will include a brief overview of the current status of gene addition trials and the preclinical development of gene editing for PKU.

Jeff has spent over 20 years in the biopharmaceutical industry, including a decade of rare disease experience at Shire, InterMune and the gene therapy company Audentes Therapeutics. Jeff is a board-certified Pharmacotherapy Specialist, having completed his Doctor of Pharmacy at the University of Minnesota College of Pharmacy, his Pharmacy Residency at Hennepin County Medical Center, and a Cardiology and Transplantation Research Fellowship at University of Michigan. He received his MBA at the Carlson School of Management, University of Minnesota.

Christian (Chris) Hendriksz is the Global Clinical Development Lead – Rare Diseases, IEM & Innovative Pharmaceuticals at Nestlé Health Science since December 2020. Chris is a South African born expert in Inborn Errors of metabolism (IEM). He qualified from the University of Pretoria in 1984 and after completing his master’s degree in Sports Medicine in 1995 moved to the United Kingdom and specialized in pediatrics and then completed the training program in IEM at the world famous Willink Unit in Manchester. He joined the Birmingham Children`s Hospital team in 2004 where he was involved in multiple research studies across the field of IEM. He left this role in 2012 to develop the adult center for IEM in Manchester at Salford Royal NHS Trust as more patients with IEM were surviving into adulthood. He retired from clinical practice in 2018 to pursue his other passion to support changing patient lives through medical education in low and middle income countries and lately drug development with the Nestle Health Science team based in Switzerland. Chris has published more than 250 peer reviewed articles in the field of IEM, multiple chapters in textbooks and continue to support research and education in the field of IEM. Due to his contribution in the field of IEM, he was appointed as extra ordinary professor of Pediatrics at University of Pretoria in 2014 as well as extra ordinary professor of metabolomics at Northwest University in South Africa in 2020. His experience in therapeutics involved development of more than 20 different therapies for IEM over the last 15 years and he hopes to be involved in a few more in the future.

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!

Dr. Menezes is a Senior lecturer at the University of Sydney and along with Dr Michael Nafisinia leads the Phenylke-tonuria research at the Westmead Institute of Medical Research and Children’s Hospital Westmead. She has a PhD from University of Sydney and her research focuses on trialling novel treatments for rare inherited disorders. Her efforts have resulted in her being the recipient of several awards including the Award for Excellence in Mitochon-drial Research by Australian Mitochondrial Disease Foundation, the Early Career Kick Start Grant from the Universi-ty of Sydney and most recently the Rotary District Vocational Excellence Award for her PKU research. Her research group works on developing a personalised approach to treating PKU and other amino acid metabolism disorders.

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.

Dr. Marja Puurunen joined Synlogic in 2017 and serves as Therapeutic Head of the Metabolic Programs. She is a physician scientist with specialty training in cardiology and a solid scientific background in evidence-based medicine, currently leading Synlogic’s metabolic programs from first-in-human studies to proof-of-concept. Dr. Puurunen earned her MD and PhD degrees at the University of Helsinki.

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.

• Cleveland Family Endowed Pediatric Research, School of Medicine
• Professor of Human Genetics, Graduate School of Public Health
• Chief of Genetic and Genomic Medicine, Children’s Hospital of Pittsburgh
• Director of the Center for Rare Disease Therapy, Children’s Hospital of Pittsburgh

Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his degree in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia, Pennsylvania. He completed his pediatric residency at the University of Colorado Health Science Center, and his postdoctoral fellowship in Human Genetic and Pediatrics at Yale University School of Medicine in New Haven, Connecticut. Before assuming his current position in Pittsburgh, Dr. Vockley was Chair of Medical Genetics in the Mayo Clinic School of Medicine. Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His current research focuses on mitochondrial energy metabolism, novel therapies for disorders of fatty acid oxidation and amino acid metabolism, and population genetics of the Plain communities in the United States. He has published ~300 peer reviewed scholarly articles, is the principle investigator on four NIH grants and a co-investigator on 7 others. He has an active clinical research program and participates in and consults on multiple gene therapy trials. Dr. Vockley has served on numerous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children where he was chair of the technology committee. He is a Founding Fellow of the American College of Medical Genetics and Genomics, and currently serves on its board of directors. He is co-chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). He also serves as chair of the Pennsylvania State Newborn Screening Advisory Committee and the Board of Directors of the American College of Medical Genetics and Genomics. He is a past president of the International Organizing Committee for the International Congress on Inborn Errors of Metabolism and the Society for the Inherited Metabolic Disorders (SIMD), and co-founder and editor of the North American Metabolic Academy.

Prof Mark Walterfang is a consultant psychiatrist working at Neuropsychiatry, Royal Melbourne Hospital. He is in-volved with managing psychiatric aspects of a range of disorders including PKU.

This years Global PKU Patient Conference will include featured scientific PKU experts from around the world! 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'.

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. 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 is funded by PKU Association, and GAP trustee, NPKUA.

More information about Dr. White's research can be found here

Dr. Amir Zarrinpar is a board-certified gastroenterologist who is a basic and translational researcher on gut microbiome and metabolism. After establishing his own laboratory as Assistant Professor of Medicine at UC San Diego in 2017, he began demonstrating that genetically engineered native gut bacteria achieve targeted manipulations of metabolism and alleviate a pathologic phenotype in mice. He obtained A.B degree in Psychology and biology from Harvard University and M.D./Ph.D. from UC San Diego. During his postdoctoral training at the Salk Institute, he showed time-restricted feeding restores normal circadian regulation and prevents adverse effects of diet-induced obesity (Cell Metabolism 2012,15:848; 2014,20:1006; Gastroenterology 2020,158:1948). He is a recipient of AASLD Liver Scholar Award and AGA Microbiome Junior Investigator Award. His research has been supported by the NIDDK, NHLBI, and NIBIB.

Join us for the 2021 Global PKU Patient Conference to hear the latest on PKU research from around the world! The Research Showcase that will be open will feature different researchers including NPKUA funded researcher Dr. Amir Zarrinpar at the University of California, San Diego. Dr. Zarrinpar's research is on the 'genetically engineered bacteria in the gut microbiome to treat PKU'. To read more about Dr. Zarrinpar's research

To read more about Dr. Zarrinpar's research CLICK HERE