Rare Disease Day 2023

Rare Disease Day 2023 – Join your community!

Join the Genetic Support Network of Victoria (GSNV) to celebrate Rare Disease Day 2023. Whether you’re living with a genetic, undiagnosed or rare condition, or you support someone who is, you’re invited to join us for two special events on Tuesday, 28 February.

“Nothing about us, without us” – explore the power of networks and alliances as a mechanism of collaboration

In 2023 GSNV will be highlighting how co-creation of a coordinated movement is essential to increasing equity for people living with rare conditions and their families.

For people living with a rare disease equity means social opportunity, non-discrimination in education and work, and equitable access to health, social care, diagnosis and treatment. Harnessing the collaborative power of the rare disease community inclusive is the gateway to change.

This Rare Disease Day we want to bring the community together to discuss how we can build a stronger alliance, to stem the inequality and isolation of ‘living rare’. Together, we’re going to build a grass-roots initiative from the community, for the community, that leaves no-one behind.

Will you join us?

This year our event will focus on “Nothing about us, without us” where we plan to explore the power of networks and alliances as a mechanism of collaboration. The day will commence with a hybrid symposium and finish with a face to face workshop expanding on the morning’s themes.

Attendance can be to both events or one  – chose your tickets based on your availability.

Event 1: Hybrid Symposium

Location:  South Yarra OR Online  

Keynote speaker: Richard Vines, Co-Founder and Chief Executive of Rare Cancers Australia

Hear the story of the National Oncology Alliance, which has been successful in significantly elevating the patient voice in the Australian health care system. This will be followed by other key rare disease community speakers.

Event 2: Workshop
Location:  South Yarra, Melbourne

Join us for a face-to-face, facilitated discussion, as we start the community consultation process for our new alliance.

From 1pm we will present a round table discussion session that will be the basis of a community consultation process for the co-creation of a grass roots collaboration. This event is a face to face event in Melbourne.

This creative, and dynamic session will explore key components in the design process including:

+ Funding models

+ Stakeholder models

+ Communication strategy

+ Terms of Reference and membership criteria

The session will conclude with a networking opportunity.

Registration for this session is open to those actively interested in the genetic, undiagnosed and rare disease community outcomes. Location advised on registration.

NB: If you are joining us for both parts of the day a light lunch will be provided.

For more information check this page in February where links to full biographies of our facilitators and key note speakers can be found.


For any questions email info@gsnv.org.au


Keynote Speaker

Meet one of our speakers at this event, Richard Vines.

Richard attended the University of Melbourne where he stu died Mathematics and Statistics. He then trained as an Actuary but was inspired to join the fledging IT industry before qualifying. After several years working in software development, Richard formed his own software company which he then sold in 1990 before embarking on a second software venture in Europe. In 1996, Richard returned to Australia where he was retained by an American company to help establish their Australian operation. In 2001, Richard left IT to work in a number of not-for-profits associated with politics and health.
In 2012 Richard and his wife Kate established Rare Cancers Australia, a patient advocacy group, whose mission is to improve the lives and outcomes for rare cancer patients.
Since the formation of RCA in June 2012 the organisation has become recognised as a leader in the broader cancer community. RCA has published research on the state of rare and less common cancers through the “Just a little more time” reports, has successfully advocated for policy reform around research and treatment for rare cancers, and has provided substantial and innovative support to Australian patients living with rare and less common cancers.
He is Chair and Chief Executive of Rare Cancers Australia, Convener and Co-chair of the National Oncology Alliance and Deputy Chair of the Australian Genomics Cancer Medicines Centre (OMICO). Richard also serves as an associate investigator on a number of research projects.
Meet one of our speakers, Dr Alison Archibald.
Alison leads a team providing genetic counselling regarding non-invasive prenatal screening, reproductive genetic carrier screening and prenatal diagnosis. She works collaboratively with laboratory teams, healthcare practitioners and patients support organisation to ensure effective design and delivery of reproductive genetic testing services. Her research involves improving clinical utility and accessibility of genetic screening and understanding patient experiences.
Meet one of our speakers for the event.
Tiffany Boughtwood is the Managing Director of Australian Genomics, an Australian Government initiative supporting genomic research and its translation into clinical practice through broad engagement and a collaborative national approach.
Tiffany has 25 years’ experience in molecular biology and management: leading academic and diagnostic genomic programs; collaborating internationally in genetic and genomic research; and consulting in health genomic implementation. She has served on the World Economic Forum Global Future Council for Biotechnology and the WHO Collective Global Network for Rare Disease; is an advisor to the UAE Genomic Program and is a founding Director of the Childhood Dementia Initiative.
Meet one of our speakers for the event. Nicholette Conroy (Nicky) is passionate about accelerating patient access to life changing treatments and improving health outcomes through strategic and collaborative work across the healthcare system and medical and technology industries. Nicholette works in the Pharmaceutical, Medical Devices and Diagnostic industries leading clinical research, product development, health technology assessment and commercialisation activities, with a focus on rare disease, genomics and new technologies.
Central to her work is the inclusion of the patient and carers perspective and needs in product development, as well as, building and maintaining a workforce capable of delivering new medical technologies that meet patient’s needs. Nicholette is currently Chair of the Genetic Alliance Australia Board, and has more than 20 years active experience in patient support and advocacy.
She has participated and led many interdisciplinary collaborations and alliances including the forming of the Lymphedema Action Alliance, InGeNA (Industry Genomics Network Alliance), and ARCS Precision Medicine Community of Practice.

Meet one of our speakers for the event, Carla Carroll. Carla is the Program Manager for InGeNA, coordinating this industry alliance of companies dedicated to integrating genomics into healthcare in Australia. Carla provides strategic and high-level administrative support to the InGeNA steering committee and working groups, including in the development and implementation of InGeNA program of work deliverables. With an M. Phil in microbial genetics, Carla’s fascination with pure science has evolved into a passion for the application of novel discoveries and innovative technologies into healthcare to drive better outcomes through precision health.

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