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Vice President, Patient Advocacy and Corporate CommunicationsCara has over 16 years of experience working with biotech and life sciences companies spanning corporate, patient, product, and internal communications. Her career has encompassed driving communications and patient advocacy strategies at public life sciences companies as well as advising early-stage to commercial healthcare companies, organizations and patient groups. Cara joined Homology Medicines over five years ago and leads the company’s rare disease community engagement efforts, focusing on ensuring patient and caregiver needs are considered across all functions and programs.

Patient Panel: The Pioneers of Early Diagnosis

Day 1: Thursday 8thAmerica (EST): 3pm-5pm | Thursday 8th Europe (GMT): 8pm-10pm | Friday 9th Dec: Asia Pacific (AEDT): 7am-9am

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It is important to look back on the Pioneers of PKU who were diagnosed in the early days when not a lot of information about the diagnosis process. Hear from PKU Pioneers; Debbie Colyer OAM, Charles Black & Duncan Noble-Nesbitt

Patient Panel: The Pioneers of Early Diagnosis

Day 1: Thursday 8thAmerica (EST): 3pm-5pm | Thursday 8th Europe (GMT): 8pm-10pm | Friday 9th Dec: Asia Pacific (AEDT): 7am-9am

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I was born in 1958, the first person diagnosed with PKU in 1961 by the wet diaper test in Australia. At this time there was very little knowledge about PKU in Australia and across the world. Nobody knew of what quality of life I would have as I grew older let alone reaching adulthood. My life has been a wonderful journey and I couldn't imagine not being diagnosed with PKU as I have been very fortunate to have been able to make some lifelong friends. I always love to make a world of difference in people's lives especially those living with PKU and other IEMs. I am proud of all I have achieved in my life - getting my diploma of nutrition degree this year- being awarded the OAM medal 🏅 in 2012 etc which are a couple of my many achievements.

Patient Panel: The Pioneers of Early Diagnosis

Day 1: Thursday 8th America (EST): 3pm-5pm | Thursday 8th Europe (GMT): 8pm-10pm | Friday 9th Asia Pacific (AEDT): 7am-9am

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My PKU journey started with diagnosis in June 1967, and have followed a restricted dietary treatment continually since, including periods of living in other countries. Having trained in general and A&E nursing, further studying led to specialist practitioner in Occupational Health, currently managing a large team of Occupational Health Practitioners. Having being involved with the NSPKU most of my life, with various committee roles, PKU advocacy has been a significant part my life, and has also included ESPKU rep work and more recently membership of the executive board. Views shared will be my own and from experiences gained throughout a lifetime of PKU treatment and advocacy.

Patient Panel: The Pioneers of Early Diagnosis

Day 1: Thursday 8th America (EST): 3pm-5pm | Thursday 8th Europe (GMT): 8pm-10pm | Friday 9th Asia Pacific (AEDT): 7am-9am

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Born in 1965, Charles was discovered with Classical PKU at 3 days. Charles remained on diet until his eleventh year; and fought from the age of 32 to go back on diet and in 2004 at the age 39 resumed diet with full coverage from the government of Ontario. Since then, Charles has been on diet and advocating for those with inborn metabolic disorders through his participation as Director with CanPKU and negotiating the diet while at work as a Sales Director in secure logistics. Charles has recently retired at the age of 57 and focusing on more of his interests in boating and travel.

On Demand - The History of PKU & Live - Patient Panel: The Pioneers of Early Diagnosis

Day 1: Thursday 8th America (EST): 3pm-5pm | Thursday 8th Europe (GMT): 8pm-10pm | Friday 9th Asia Pacific (AEDT): 7am-9am

GAP PANEL: WHY GAP? Supporting global PKU priorities & PRESENTATION & FACILITATED Q&A: Understanding PKU - Looking beyond the Ivory Towers Metabolism Clinic

Day 2: Friday 9th America (EST): 3pm-5pm | Friday 9th Europe (GMT): 8pm-10pm | Saturday 10th Asia Pacific (AEDT): 7am-9am

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PKU dad, co-founder and President, Canadian PKU and Allied Disorders; co-founding trustee and board chair, Global Association for PKU. John is a seasoned managment consultant and passionate patient advocate. He volunteered ten years on the board of the Canadian Organization for Rare Disorders and chairs the Best Medicines Coalition of 29 Canadian patient organizations. He is a well-regarded commentator and analyst of the Canadian health care system as a Senior Fellow of the Macdonald-Laurier Institute, a non-partisan think tank. He lives in Canada and Mexico.

LIVE Q&A Drop In's

Day 1: Thursday 8th America (EST): 3pm-5pm | Thursday 8th Europe (GMT): 8pm-10pm | Friday 9th Asia Pacific (AEDT): 7am-9am

LIVE Q&A Drop In's

Day 3: Saturday 10th America (EST): 3pm-5pm | Saturday 10th Europe (GMT): 8pm-10pm | Sunday 11th Asia Pacific (AEDT): 7am-9am

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Nicole McWhorter, MS RD has been a dietitian in the field of metabolism for more than a decade. She currently consults with Synlogic, advising them on nutrition management during clinical trials as well as providing dietary services and support to clinics involved in their trials. Previously she worked for 9 years at the University of Kentucky Division of Genetics and Metabolism as a clinical and research metabolic dietitian.

GAP Panel: Why GAP? Supporting global PKU priorities

Day 2: Friday 9th America (EST): 3pm-5pm | Friday 9th Europe (GMT): 8pm-10pm | Saturday 10th Asia Pacific (AEDT): 7am-9am

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In 2018, at the NPKUA Conference in Atlanta, Tobias Hagedorn announced the creation of the Global Association of PKU also known as GAP. This exciting news showcased the new patient initiative aiming to bridge the gaps in PKU care worldwide. 4 years on from this announcement GAP has continued to work together to support PKU priorities which includes hosting this year’s PKUGlobe Conference.

GAP Panel: Why GAP? Supporting global PKU priorities

Day 2: Friday 9th America (EST): 3pm-5pm | Friday 9th Europe (GMT): 8pm-10pm | Saturday 10th Asia Pacific (AEDT): 7am-9am

PATIENT PANEL: GAPs in diagnosis & access to care priorities.

Day 3: Saturday 10th America (EST): 3pm-5pm | Saturday 10th Europe (GMT): 8pm-10pm | Sunday 11th Asia Pacific (AEDT): 7am-9am

The issue of health migration

Day 6: Tuesday 13th America (EST): 3pm-5pm | Tuesday 13th Europe (GMT): 8pm-10pm | Wednesday 14th Asia Pacific (AEDT): 7am-9am

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I am a 54 year old voluntary PKU patient representative at both international and national level. More importantly, I am the loving husband of my wife Christine, who is the PKUer in our family.Currently I am serving as Secretary to the European Society for PKU (ESPKU) and as Member of the Executive Committee of the Global Association for Phenylketonuria (GAP). As Past Chairman of the German PKU Patients Associtaion DIG PKU, I am still connected with them as their Senior Political Advisor.

GAP Panel: Why GAP? Supporting global PKU priorities

Day 2: Friday 9th America (EST): 3pm-5pm | Friday 9th Europe (GMT): 8pm-10pm | Saturday 10th Asia Pacific (AEDT): 7am-9am

PATIENT PANEL: GAPs in diagnosis & access to care priorities.

Day 3: Saturday 10th America (EST): 3pm-5pm | Saturday 10th Europe (GMT): 8pm-10pm | Sunday 11th Asia Pacific (AEDT): 7am-9am

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Mexican, from Jalisco the land of the Tequila and Marichi, married with Paty Camacho, lawyer and father of two youn girls Daniela and Sofia, Sofia has PKU.Founder and presidente since 2011 of PKU Mexico, and actually Vicechair of GAP (Global Association for PKU).

PRESENTATION & FACILITATED Q&A: Understanding PKU - Looking beyond the Ivory Towers Metabolism Clinic

Day 2: Friday 9th America (EST): 3pm-5pm | Friday 9th Europe (GMT): 8pm-10pm | Saturday 10th Asia Pacific (AEDT): 7am-9am

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Dr. Korson graduated in medicine from the University of Toronto and completed a pediatric residency at Toronto’s Hospital for Sick Children, followed by a genetics/metabolism fellowship at Boston’s Children's Hospital. He directed the metabolic clinics at Boston Children's Hospital until 2000 and across town at Tufts Medical Center until 2014. He co-founded and co-directs the SIMD’s North American Metabolic Academy. In 2017, he joined VMP Genetics as Director of Education and Physician Support Services, providing remote consultative assistance to clinicians at 10 major academic medical centers caring for patients with proven or suspected metabolic disease. He has significant experience in creating innovative educational resources about metabolic diseases for non-genetic clinicians so that they can play more of a role in patient diagnosis and management. Also at VMP Genetics, he directs the Patient-Teacher Registry and Patient-Teacher Video Catalog, with the aim of ensuring that the patient voice plays a bigger role in the education of health professionals. Regionally, he is on the board of the New England Regional Genetics Network, and as a founding board member of Rare New England, hosts the annual Rare Disease Day Speakers Series in New England and their online Medical Genetics Career Fairs.

GAP Panel: Why GAP? Supporting global PKU priorities

Day 2: Friday 9th America (EST): 3pm-5pm | Friday 9th Europe (GMT): 8pm-10pm | Saturday 10th Asia Pacific (AEDT): 7am-9am

EXPERT PANEL: PKU Clinical Practice Guidelines PKU guidelines across the globe

Day 4: Sunday 11th America (EST): 3pm-5pm | Sunday 11th Europe (GMT): 8pm-10pm | Monday 12th Asia Pacific (AEDT): 7am-9am

Wellbeing - Thriving with PKU. A wellness session for PKU Adults

Day 5: Monday 12th America (EST): 3pm-6pm | Monday 12th Europe (GMT): 8pm-10pm | Tuesday 13th Asia Pacific (AEDT): 7am-9am

PKU ADVOCACY WORKSHOP: For patient advocates & future leaders (limited spaces avail)globe

Day 6: Tuesday 13th America (EST): 3pm-6pm | Tuesday 13th Europe (GMT): 8pm-10pm | Wednesday 14th Asia Pacific (AEDT): 7am-9am

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Louise is a PKU parent and the Vice President of the Metabolic Dietary Disorders Association (Australia) for the past 10 years. she is a small business owner and has qualification in psychology. she is founding member of the GAP board.

On Demand - Identifying the gaps in PKU care around the globe

Day 2: Friday 9th America (EST): 3pm-5pm | Friday 9th Europe (GMT): 8pm-10pm | Saturday 10th Asia Pacific (AEDT): 7am-9am

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PKU Family Association Volunteer Leader & Pediatric Metabolism Dietitian She graduated from Medipol University – Istanbul Nutrition and Dietetics Department.

On Demand - Identifying the gaps in PKU care around the globe

Day 2: Friday 9th America (EST): 3pm-5pm | Friday 9th Europe (GMT): 8pm-10pm | Saturday 10th Asia Pacific (AEDT): 7am-9am

The issue of health migration

Day 6: Tuesday 13th America (EST): 3pm-5pm | Tuesday 13th Europe (GMT): 8pm-10pm | Wednesday 14th Asia Pacific (AEDT): 7am-9am

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Cristian is the dad of a 22 years old PKU lady. He started working with PKU families in 2002, launched “PKU Argentina” and created the first PKU website in Spanish. He moved to Toronto Canada in 2004 looking for better treatment and care for his daughter. In 2008 I co-founded CanPKU, was Chair of the Board and currently working as the IT Manager. Cristian is passionate about helping the PKU community in Canada and Latin-America, and he is also a funding member, trustee and secretary of The Global Association for PKU (GAP).

On Demand - PKU and the Empowering Role of Advocacy

Day 2: Friday 9th America (EST): 3pm-5pm | Friday 9th Europe (GMT): 8pm-10pm | Saturday 10th Asia Pacific (AEDT): 7am-9am

PKU ADVOCACY WORKSHOP: For patient advocates & future leaders (limited spaces avail)

Day 6: Tuesday 13th America (EST): 3pm-5pm | Tuesday 13th Europe (GMT): 8pm-10pm | Wednesday 14th Asia Pacific (AEDT): 7am-9am

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Bernadette Sheehan Gilroy is a parent to a child with PKU and has recently shared her experience of using advocacy as a positive coping mechanism for PKU on a Ted Talk entitled "The Empowering Role of Advocacy: A Parent's Perspective". She is the current Chairperson of the PKU Association of Ireland (PKUAI), a GAP board member, a Lecturer in the School of Health and Social Sciences at the Munster Technological University and a Researcher at Dublin City University. She has been involved in the PKU Association’s #fight4visibility and #EmpoweringPKU campaigns with the main objectives of raising awareness, improving services available to patients and gaining access to medicines. She is a graduate of the IPPOSI Patient Education Programme, a member of the EUPATI National Platform, an Irish Delegate for the European Society of PKU and Allied Disorders and has been a PKUAI Representative in the Health Technology Assessment process for a recently approved medicine for PKU in Ireland.

On Demand - The Importance of Rare Disease Patient Registries

Day 2: Friday 9th America (EST): 3pm-5pm | Friday 9th Europe (GMT): 8pm-10pm | Saturday 10th Asia Pacific (AEDT): 7am-9am

Live - FACILITATED Q&A: Filling the gap on patient outcomes and PKU disease

Day 6: Tuesday 13th America (EST): 3pm-5pm | Tuesday 13th Europe (GMT): 8pm-10pm | Wednesday 14th Asia Pacific (AEDT): 7am-9am

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Pam has been a rare disease advocate for over 20 years with 12 of those years at NORD. In her current role she oversees medical affairs, community engagement, and patient services programming. Prior to NORD, she worked in the health IT field focusing on patient safety, health outcomes, and patient empowerment.

PATIENT PANEL: GAPs in diagnosis & access to care priorities.

Day 3: Saturday 10th America (EST): 3pm-5pm | Saturday 10th Europe (GMT): 8pm-10pm | Sunday 11th Asia Pacific (AEDT): 7am-9am

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Our live panelists discuss the gaps in diagnosing PKU and the access to first part of the care program. Our panelists came from a variety of countries including Turkey, Brazil, Canada and Mexico

The future for International Newborn screening and Live Q&A Drop In's

Day 3: Saturday 10th America (EST): 3pm-5pm | Saturday 10th Europe (GMT): 8pm-10pm | Sunday 11th Asia Pacific (AEDT): 7am-9am

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Prof Bonham is currently the President of the International Society of Neonatal Screening and national laboratory lead for newborn screening in the UK.

He has a long standing interest in the diagnosis of inherited metabolic disorders in childhood and travels extensively, taking part in meetings related to the organisation, conduct and development of newborn screening.

He has an interest in the potential for the use of genomics in newborn screening alongside biochemical assays.

He also Chairs an International group in partnership with the International Federation of Clinical Chemistry seeking to extend newborn screening in low and middle income countries.

On Demand - The UN resolution on Rare Disease for PKU

Live - Live Q&A Drop In's day 3

Day 3: Saturday 10th America (EST): 3pm-5pm | Saturday 10th Europe (GMT): 8pm-10pm | Sunday 11th Asia Pacific (AEDT): 7am-9am

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Durhane Wong-Rieger has PhD from McGill University and was professor at Oklahoma State University and University of Windsor, Canada. She is chair of Rare Diseases International, president of Asia Pacific Alliance of Rare Disease Organisations, treasurer of UN NGO Committee for Rare Diseases, chair of IRDiRC Patient Advocacy Constituent Committee, advisor to APEC Rare Disease Network, and editor with The Patient: Patient-Centered Outcomes Research and Rare Disease and Orphan Drug Journal. She is CEO of Canadian Organization for Rare Disorders and Institute for Optimizing Health Outcomes and chair of Canadian Heart Patient Alliance

EXPERT PANEL: PKU Clinical Practice Guidelines PKU guidelines across the globe

Day 4: Sunday 11th America (EST): 3pm-5pm | Sunday 11th Europe (GMT): 8pm-10pm | Monday 12th Asia Pacific (AEDT): 7am-9am

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Our live sessions brings our panelists together to discuss the clinical practice guidelines throughout different countries. Our panelists come from a variety of countries including Australia, UK, America, Netherlands

Expert Panel: PKU Clinical Practice Guidelines

Day 4: Sunday 11th America (EST): 3pm-5pm | Sunday 11th Europe (GMT): 8pm-10pm | Monday 12th Asia Pacific (AEDT): 7am-9am

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Anita INWOOD, Ba Nurs, Grad Dip Paeds, MNP

Director, Queensland Lifespan Metabolic Medicine Service, Service Group Director of Neurology and Metabolic Medicine,Queensland Children's Hospital, Brisbane, Australia

Associate lecturer, University of Queensland, Brisbane Australia

Anita Inwood has been A paediatric nurse for 34 years, working in metabolic medicine since 2003. A Churchill Fellow in 2012 and a Nurse Practitioner from 2015, and adjunct lecturer at the UQ. Anita is the Director of the Queensland Lifespan Metabolic Medicine Service and the Service Group Director of Neurology and Metabolic Medicine. Her clinical portfolios are PKU, FAOD and hypoglycaemia

Expert Panel: PKU Clinical Practice Guidelines Across The Globe

Day 4: Sunday 11th America (EST): 3pm-5pm | Sunday 11th Europe (GMT): 8pm-10pm | Monday 12th Asia Pacific (AEDT): 7am-9am

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Cleveland Family Endowed Pediatric Research, School of MedicineProfessor of Human Genetics, Graduate School of Public HealthChief of Genetic and Genomic Medicine, Children’s Hospital of PittsburghDirector 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.

Expert Panel: PKU Clinical Practice Guidelines Across The Globe

Day 4: Sunday 11th America (EST): 3pm-5pm | Sunday 11th Europe (GMT): 8pm-10pm | Monday 12th Asia Pacific (AEDT): 7am-9am

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Dr Anita MacDonald OBE is Consultant Dietitian in Inherited Metabolic Disorders at Birmingham Children’s Hospital, and an Honorary Professor in Dietetics at Plymouth University, UK. Although she semi-retired 6 years ago, she is even more involved in PKU work, concentrating solely on this group as well as doing some voluntary work for the National Society for PKU (NSPKU).

Her involvement in inherited metabolic disorders (IMD) has spanned almost all her working life (>40 years).

Dr MacDonald obtained her PhD in phenylketonuria (PKU) in 1999. She has directly cared for over 400 patients with PKU. She has always been involved in PKU research, supervises PhD students, Master students and lectures worldwide on PKU. She has around 450 publications – many are research publications on PKU.

She is a member of the European PKU Guidelines group (which is aiming to standardise PKU care across Europe), is a member of ESPKU Scientific Advisory Committee, and member of the UK NSPKU Medical Advisory Panel.

The retirement slippers remain well and truly in their box!

Expert Panel: PKU Clinical Practice Guidelines Across The Globe

Day 4: Sunday 11th America (EST): 3pm-5pm | Sunday 11th Europe (GMT): 8pm-10pm | Monday 12th Asia Pacific (AEDT): 7am-9am

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Francjan J. van Spronsen is a pediatrician Metabolic Diseases at Beatrix Hospital, University Medical Centre of Groningen (UMCG), with a long-standing research interest in the effects of abnormal amino acid concentrations for body and brain, especially in phenylketonuria (PKU) and Tyrosinemia type I.

He studied medicine in Groningen, after which he did a PhD study on PKU, and at the same time became interested in Tyrosinemia type I. He defended his PhD thesis in 1996 and completed his specialization as a general pediatrician in 1997. Afterwards he received his training for metabolic diseases. Since 2001 he has joined the metabolic team as pediatrician metabolic diseases. In March 2013, he was appointed full professor in pediatrics with special interest in defects in amino acid metabolism and some months later became in charge of the Division of Metabolic Diseases in the children’s hospital of the university medical centre in Groningen. He currently treats patients with metabolic diseases from birth into adulthood.

His research focus is on the causes and consequences of defects in amino acid metabolism and the relationships between metabolic control, metabolic pathways and neurocognitive outcomes, and the improvement of these abnormalities, resulting in some 100 articles on PKU and Tyrosinemia type I only.

At a national level, he chairs the Advisory Committee on Neonatal Screening with respect to inherited metabolic diseases, and is a member of the Dutch Committee on Neonatal Screening. At an international level, he chairs the Scientific Advisory Board of the European Society of PKU and Allied Disorders, and is a member of various European and international advisory boards and working groups for various defects in amino acid metabolism. He is leading a group of some 17 colleagues writing the European guidelines for PKU.

On Demand - Low Phe Life Cartoon Channel - Watch special screening of the Low-Phe Life cartoon episodes

Live -

Day 4: Sunday 11th America (EST): 3pm-5pm | Sunday 11th Europe (GMT): 8pm-10pm | Monday 12th Asia Pacific (AEDT): 7am-9am

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Kurt Sensenbrenner is an award winning documentary media maker.
With over 10 years of video production experience, Kurt spent the first five working his way up in the film industry. He started as a PA, then worked as a first AC for a few years before breaking into the camera operating and DPing world. The last five were spent working as a staff Video Producer where he researched, pitched, directed, produced, shot, and edited nonfiction aviation videos for the AOPA Air Safety Institute, which earns over 13 million views a year.
His directorial debut From Mass to the Mountain–a feature documentary about drought, deforestation, and government corruption in rural eastern Panama aired nationwide on PBS in 2017.
Currently, he's directing and producing two projects: one, is an animated-documentary-comedy series about living with a rare disorder. The other is a live-action documentary short that tells the story of two young women fighting to protect rainforest using butterflies as bioindicators to determine the health of their local rainforest.

Patient Panel: International Traveller Tips

Day 5: Monday 12th America (EST): 3pm-6pm | Monday 12th Europe (GMT): 8pm-10pm | Tuesday 13th Asia Pacific (AEDT): 7am-9am

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Do you have a trip coming up shortly or you would like to travel, well be sure to listen into this live panel session which discusses Travellers tips for international travel.

Patient Panel: International Traveller Tips

Day 5: Monday 12th America (EST): 3pm-6pm | Monday 12th Europe (GMT): 8pm-10pm | Tuesday 13th Asia Pacific (AEDT): 7am-9am

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Bianca Albanese is an adult living with PKU from Sydney, Australia. Through her work as a biomedical engineer, avid hockey player and her love of exploring, she has travelled to quite a few countries over the years. She is currently on her first trip to South America, but has travelled Europe, North America, Asia and all around Australia. Apart from having the opportunity to meet others with PKU, a favourite travel memory is a cooking class in Tuscany where she cooked up a beautiful low protein pasta dish and veggie pizza.

On Demand - PKU Return to Care (Diet & Treatment)

Day 5: Monday 12th America (EST): 3pm-5pm | Monday 12th Europe (GMT): 8pm-10pm | Tuesday 13th Asia Pacific (AEDT): 7am-9am

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Anne-Marie Desai is a clinical specialist dietitian. She has worked in both paediatric and adult nutrition for over 20 years, both in Australia and in the USA, and is highly regarded as a skilled clinician and educator. Anne-Marie has spent her career working mainly in kidney nutrition and is particularly interested in improving understanding and nutrition care in complex chronic diseases. Anne-Marie enjoys working with the IEM community has spent several years developing resources for the PKU community.

On Demand - Maternal PKU

Day 5: Monday 12th America (EST): 3pm-5pm | Monday 12th Europe (GMT): 8pm-10pm | Tuesday 13th Asia Pacific (AEDT): 7am-9am

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Professor Maria Giżewska works at the Pomeranian Medical University in Szczecin, Poland as a specialist in pediatrics and pediatric metabolism and a consultant on IEM for the Region of West Pomerania, Poland.

Her researches focus on early diagnosis and treatment of IEM, including PKU. She was involved in the development of the first European Guidelines on the Diagnosis and Management of Phenylketonuria and is the author of over 120 publications on IEM, general pediatrics, pediatric endocrinology, neurology and genetics.

Professor Giżewska is a member of many international societies being active as a vice-chair of Polish Society of PKU and a vice-chair of ESPKU Scientific Advisory Committee .

On demand - Large Neutral Amino Acid Therapies and Phenylketonuria: A promising approach to treatment

Day 5: Monday 12th America (EST): 3pm-5pm | Monday 12th Europe (GMT): 8pm-10pm | Tuesday 13th Asia Pacific (AEDT): 7am-9am

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Kirsten has worked with PKU since 1997 at the national PKU clinic in Denmark. The clinic treats all PKU patients living in Denmark, Greenland, and the Faroe Islands, at total of 520, where around 50 of them are late-diagnosed, born before screening was implemented. She is a metabolic dietitian, RD, and has completed a M.Sc. in Human Nutrition and a Ph.D. in clinical genetics (PKU). She has worked in research-labs in Canada and Saudi Arabia. She is a member of several advisory boards and the Scientific-Advisory-Board under the ESPKU. She is also an active member of the Danish PKU organization, where she serves as a scientific representative.

On demand - Co-Morbidities in Adult PKU Patients - Organ involvement Kidney, Eye and Heart: becomes PKU a new phenotype?

Live - LIVE Q&A Drop In's

Day 5: Monday 12th America (EST): 3pm-5pm | Monday 12th Europe (GMT): 8pm-10pm | Tuesday 13th Asia Pacific (AEDT): 7am-9am

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Prof. Dr. med. Friedrich Trefz received his medical degree from the University of Heidelberg in 1972. After receiving his degree he had a training in the biochemical laboratory at the Childrens Hospital in Heidelberg, and in 1975 he started his training in pediatrics under Prof.Dr. Horst Bickel. In 1983 he received his degree in Paediatrics, in 1985 he became the head of the “Sektion Pädiatrische Stoffwechselkrankeheiten” at the University Children’s Hospital of Heidelberg. Later in 2009 he received an additional degree in Paediatric Diabetes and Endocrinology.

Prof. Dr. med. Trefz has received many grants from the German Federal Ministry of Education and Research, from 1994-2002 he was pricipal investigator of the International Maternal PKU study together with Prof. Richard Koch (Los Angeles), and Prof. Harvey Levy (Boston). He also was principal German investigator in the International Sapropterin Study from 2005 to 2007.

In 1992 he moved from Heidelberg to Reutlingen and became the head of the department of pediatrics at the Klinik für Kinder und Jugendmedizin at Klinikum am Steinenberg, Reutlingen, School of Medicine, University of Tuebingen. In 2010 he retired from the Childrens Hospital in Reutlingen and became head of the outpatient medical centre for Women, Children and Adolescents , Kreiskliniken Reutlingen, in Gammertingen, Germany. In 4/2015 he went back to the University Clinic of Heidelberg and established under the supervision of Prof. Dr. Georg Hoffmann and Prof. Dr. Peter Nawroth the adult outpatient clinic for rare metabolic disorders (up to 12/2017).

In 2018 he founded a private company for “Metabolic Consulting and Research” to further support knowledge and research in inborn errors of metabolism. He has more than 45 years of experience especially in treatment of patients with phenylketonuria.

PATIENT PANEL: The issue of Health Migration

Day 6: Tuesday 13th America (EST): 3pm-5pm | Tuesday 13th Europe (GMT): 8pm-10pm | Wednesday 14th Asia Pacific (AEDT): 7am-9am

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Our panelists gather together in this live session to discuss how migrating to a new country and managing PKU.

PKU ADVOCACY WORKSHOP: For patient advocates & future leaders (limited spaces avail)

Day 6: Tuesday 13th America (EST): 3pm-5pm | Tuesday 13th Europe (GMT): 8pm-10pm | Wednesday 14th Asia Pacific (AEDT): 7am-9am

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You must of pre-registered for this workshop with Louise Healy from MDDA and Bernadette from PKU Ireland. This workshop will is designed for our future PKU leaders and advocates around the globe to gather together as once and help build a strong PKU presence around the world.