27/02/2026
Otago marks Rare Disease Day with commitment to next generation of researchers
The University of Otago will mark Rare Disease Day on 28 February by lighting the iconic Clocktower in recognition of the millions of people worldwide living with rare disorders — and reaffirming its leadership in translational rare disease research.
While individually rare diseases affect fewer than one in 2,000 people, collectively more than 300 million people worldwide live with one of more than 7,000 rare conditions. Half of those affected are children, and 95 per cent of rare diseases still have no approved treatment.
Professor Stephanie Hughes, Co-Director of the Research Alliance for Rare Illness Translational Pathways (RARITY), says Rare Disease Day is both a moment of visibility and a call to action.
“Rare Disease Day reminds us that ‘rare’ does not mean insignificant. Lighting the Clocktower is a powerful symbol — but what matters most is the work we are doing to improve outcomes for whānau living with rare conditions.” Professor Hughes says.
RARITY, established as a University Research Theme in 2025, brings together researchers, clinicians, industry partners, patient advocates and policy leaders to accelerate the pathway from laboratory discovery to clinical and community impact. A central focus of the initiative is investment in Early Career Researchers (ECRs), ensuring emerging scientists are equipped not only to make discoveries, but to translate them in meaningful ways.
“If we want progress, we must train researchers who understand commercialisation, policy, advocacy and cultural partnership — not just molecular biology,” Professor Hughes says.
In 2025, RARITY launched its Internship Programme, designed to move postgraduate and postdoctoral researchers beyond the bench and into real-world translational environments.
Priyal Dass (Department of Biochemistry), one of the inaugural interns, attended the international NCL Congress and BDSRA Australia Family Conference under the mentorship of patient advocate Dr Ineka Whiteman.
“This experience has shown me just how important it is for researchers, clinicians and policy makers to work together with patients to generate effective change,” Priyal says.
“Being immersed in the Batten community helped me understand how scientific findings translate into hope, advocacy and real decisions affecting families. It has motivated me to volunteer within the Batten community as a way to stay connected as a researcher.”
During the conference, Priyal presented both a talk and an award-winning poster on her research into Batten disease, a fatal childhood neurodegenerative condition.
RARITY’s commitment to early-career development extends to governance. In 2026, Dr Sankalita Ray Das joins the Steering Committee as Early Career Researcher representative. A postdoctoral fellow in the Rare Disorders Genetics Lab, she investigates genes involved in rare brain development disorders, spanning gene discovery through to disease modelling and therapeutic target identification.
“I’m excited and honoured to contribute to RARITY’s shared goals in rare disorder research,” Dr Ray Das says.
Co-Director Māori Professor Louise Parr-Brownlie says translational success must also be culturally grounded.
“We are embedding Te Tiriti partnership and community co-design into how we approach rare disease research,” she says.
“For whānau, research is deeply personal. Our early-career researchers are learning to work across disciplines and communities in ways that honour lived experience.”
With Professor Louise Parr-Brownlie’s term as Co-Director Māori coming to a close, the Steering Committee acknowledges her vision and steadfast commitment to ensuring RARITY was established on strong cultural foundations. Dr Luke Wilson will assume the role of Co-Director Māori, continuing the emphasis on equity, Māori engagement and translational impact for whānau.
As the Clocktower lights up on 28 February, Professor Hughes says the gesture represents solidarity — and intent.
“It’s a visible reminder that rare diseases matter,” she says.
“But it is also a signal that Otago is building a pipeline that connects discovery to diagnosis, therapy, policy and advocacy. Rare Disease Day reminds us why that work cannot wait.”
