Rare Disorders researchers come together in Christchurch for two-day forum

On 5th and 6th August Rare Disorders NZ, along with the NZ ERDERA National Mirror Group establishment team and the RDNZ Rare Disorders Research Network leadership group hosted a two-day Rare Disorders Research Forum in Christchurch.

The Forum provided rare disorders researchers and stakeholders from around Aotearoa New Zealand and abroad an important opportunity to strengthen connections and determine how the rare disorders research space can best expand and thrive. Developing the infrastructure, capacity, international connectedness and funding for rare disorders research are all essential elements to this.

The rare disorders research sector is an exciting space full of passionate individuals committed to contributing to improving the health and wellbeing of people living with rare disorders and it is wonderful to provide these opportunities to connect and collaborate.

Thank you to Dr. Hamish Campbell MP, Chair of the Cross-Party Parliamentary Group on Rare and Undiagnosed Disorders for opening the event, and to everyone who attended from near and far.

He Kōhanga Kōtuku Sam La Hood

ERDERA Professor Hugh Dawkins

The Canterbury Genomic Pilot Project Richard King

Coding for rare disorders in the health record Alastair Kenworthy

Clinical Trial Readiness in Neurogenetics in Aotearoa Miriam Rodrigues

Diagnosis of ultra-rare and novel syndromes with a skeletal dysplasia flair Patrick Yap

Translating inherited cardiac disease research into clinical care Dr Stabej and Dr Ward

Small molecules therapeutics for lysosomal storage disorders Dr Farah Lambie-Oulaidi

How patient advocacy informs innovation in rare diseases diagnosis Dr Shirlene Badger

Data sovereignty, including indigenous perceptions of genomic data Professor Phillip Wilcox

Experiences of people living with rare disorders RDNZ 2025 White paper survey results Chris Higgins

Using administrative data to explore the health and service Lisa Underwood, Nick Bowden, Natalia Boven

From Diagnostic Odyssey to Equitable Answers Building Aotearoa’s Rare Disorder Genomics Future Dr Eli Mrkusich

What's out there Interactive, personalised online tools for parents of children with genetic neurodevelopmental conditions Helen Willacy

Integrating rare disease research, innovation, care and support through answering the questions families ask. Professor Gareth Baynham

ERDERA perspective and global vision plus international initiatives for people living with rare and undiagnosed diseases  Professor Hugh Dawkins

The European Rare Disease Research Alliance (ERDERA) and why New Zealand’s membership as a National Mirror Group (NMG) matters Victoria Hedley