2022 National Rare Disease Summit Program

Master of Ceremonies: Julian Morrow

The following sessions and workshops will take place on 11 and 12 November 2022.

The Summit is designed to be experienced in person to maximise relationship building, interaction and participation. However, in recognition of the ongoing uncertainty around COVID-19, virtual attendance will be available but will be limited to optimise the quality of the online experience. Virtual attendance will allow you to watch the plenary and panel sessions, engage in Q&A and network online. You will not be able to participate in any workshops or attend the Gala Event.

Time	Summit Program - Day 1*
8:30am	Registration Opens
9:00am	Opening Session Welcome - Joanna Betteridge, Chair, Rare Voices Australia Opening Address - Hon Mark Butler MP, Minister for Health and Aged Care Opposition Address - Senator the Hon Anne Ruston, Shadow Minister for Health and Aged Care The Role and Importance of Lived Experience in Implementing the National Strategic Action Plan for Rare Diseases - Beck Webber, RVA Ambassador Setting the Scene for the 2022 National Rare Disease Summit - Nicole Millis, Chief Executive Officer, Rare Voices Australia
9:50am	Panel Discussion - A Person-Centred Approach to Implementing the National Strategic Action Plan for Rare Diseases Katie Alexander, RVA Ambassador Lachy Beckett, RVA Ambassador Tammie Rees, RVA Ambassador
10:30am	Morning Tea
10:50am	Panel Discussion - Celebrating RVA's 10 Years of Rare Disease Advocacy and Shaping the Next Decade Dr Mike Freelander MP, Member for Macarthur Dr Kaustuv Bhattacharaya, Metabolic Paediatrician, Genetic Metabolic Disorders Service Dr Kathryn Evans, Managing Director, BioMarin Pharmaceutical Australia Pty Ltd Sean Murray, Chief Executive Officer, Mito Foundation Dr Carol Wicking, RVA Director, Member of RVA's Scientific and Medical Advisory Committee
11:30am	Panel Discussion - National Strategic Action Plan for Rare Diseases - Awareness and Education Case Studies from Childhood Dementia Initiative – Megan Donnell, Chief Executive Officer, Childhood Dementia Initiative Rare Awareness Rare Education (RARE) Portal – Dr Amanda Choo, Resources and Information Officer, Rare Voices Australia Rare Disease Awareness, Education, Support, and Training (RArEST) Project – Dr (Elizabeth) Emma Palmer, Clinical Geneticist, Sydney Children’s Hospitals Network; University Lecturer, University of New South Wales Overview: Projects Being Implemented in Response to the National Strategic Action Plan for Rare Diseases – Dr Falak Helwani, Research and Evaluation Manager, Rare Voices Australia
12:30pm	Lunch
1:30pm	Workshop 1: Progressing the Awareness and Education Pillar of the National Strategic Action Plan for Rare Diseases
2:45pm	Afternoon Tea
3:05pm	Report Back: Workshop 1
3:20pm	National Strategic Action Plan for Rare Diseases - Care and Support Case Studies from Myasthenia Alliance Australia – Susan White, Chairperson, Myasthenia Alliance Australia Update from the Department of Health: Newborn Bloodspot Screening - Lisa Schofield PSM, First Assistant Secretary, Cancer, Hearing and Chronic Conditions Division Update on the Rare Metabolic Disease Workforce White Paper: Towards a Strengthened Rare Disease Workforce for Australia – Dr Falak Helwani, Research and Evaluation Manager, Rare Voices Australia Update on the Review of Health Technology Assessment (HTA) in Australia – Jo Watson, Deputy Chair of the Pharmaceutical Benefits Advisory Committee (PBAC) Update: Mental Health and Rare Diseases - Louise Healy, Education and Advocacy Manager, Rare Voices Australia Rare Diseases and the National Disability Insurance Scheme - Fiona Lawton, President, Angelman Syndrome Association Australia
4:45pm	Summary of Day 1 of the Summit
5:00pm	Day 1 Ends
6:30pm	Gala Event Begins

Time	Summit Program - Day 2*
8:30am	Registration Opens
8:45am	Workshop 2 - Progressing the Care and Support Pillar of the National Strategic Action Plan for Rare Diseases
10:00am	Morning Tea
10:20am	Report Back: Workshop 2
10:35am	National Strategic Action Plan for Rare Diseases - Research and Data Rare Disease Registry Audit - Prof Susannah Ahern, Monash University Update: James Lind Alliance Project – Prof Adam Jaffé, UNSW/Sydney Children’s Hospital, Randwick, Respiratory Disorders, CF, Consumers, Clinicians & Clinical Trials (NHMRC) Translational Research Study (BrAshA-T) – Prof David Coman, Paediatrician, Metabolic Physician, Clinical Geneticist
10:55am	Panel Discussion - Flying the Flag for Rare Diseases Indigenous Genomics Rare Disease Flagship Proposal – Clin/Prof Gareth Baynam, Western Australian Register of Developmental Anomalies, GSWA, WADoH, Centres of Expertise, Phenotyping, Digital Health, Medical Director, Rare Care Centre Rare Care Centre – Clin/Prof Gareth Baynam, Western Australian Register of Developmental Anomalies, GSWA, WADoH, Centres of Expertise, Phenotyping, Digital Health, Medical Director, Rare Care Centre Murdoch Children’s Research Institute and Rare Diseases – Prof John Christodoulou, Director, Genetics Theme/Group Co-Leader, Brain and Mitochondrial Research Group, Murdoch Children's Research Institute Garvan Institute of Medical Research's Rare Disease Flagship – A/Prof Jodie Ingles, Head, Clinical Genomics Laboratory, Cardiac Genetic Counsellor, Cardiology Dep., RPA Hospital Sydney Sydney Children’s Hospital Network and Rare Diseases – Prof Adam Jaffé, UNSW/Sydney Children’s Hospital, Randwick, Respiratory Disorders, CF, Consumers, Clinicians & Clinical Trials (NHMRC) Sydney Local Health District Commitment and Rare Diseases – Prof John Rasko, Head of Department, Cell & Molecular Therapies, Royal Prince Alfred Hospital
12:00pm	Lunch
1:00pm	Workshop 3: Progressing the Research and Data Pillar of the National Strategic Action Plan for Rare Diseases
2:20pm	Report Back: Workshop 3
2:35pm	Summary of the Summit
3:00pm	Summit formalities conclude
3:00pm	Afternoon Tea/Networking
4:00pm	Summit Concludes

*Please note: the above Agenda is subject to change.