Professor Stephanie Hughes receives a Rare Disorders Research Award from Her Excellency, The Rt Hon Dame Cindy Kiro, GNZM, QSO, Governor-General of New Zealand, with Rare Disorders NZ Relationship Manager Kim McGuiness looking on.
Professor Stephanie Hughes’s work on a rare childhood disease has been nationally recognised.
Stephanie was awarded the inaugural Rare Disorders Research Award in Government House by Her Excellency, The Rt Hon Dame Cindy Kiro, GNZM, QSO, Governor-General of New Zealand.
Rare Disorders NZ (RDNZ) celebrated its 25th anniversary at Government House on 28 February with an awards ceremony to recognise select individuals who have spearheaded significant initiatives for rare disorders.
Stephanie is a molecular neurobiologist in the Department of Biochemistry, specialising in gene therapy for Batten Disease – a fatal childhood disease.
The award noted Stephanie has dedicated her career to rare disease research, community outreach and family support.
Her skills in gene therapy and neuronal models have been highly sought after with collaborations throughout Aotearoa New Zealand and internationally.
She says she was both shocked and honoured to receive this award from RDNZ and the Governor General, who is a patron of RDNZ.
“The award represents many years of work by a team of students and staff dedicated to finding treatments for Batten Disease, a rare neurodegenerative disease affecting children and their communities,” Stephanie says.
“I remain determined to continue our work with families, community education researchers and clinicians to drive towards cures. Our recent Otago theme funding RARITY, of which I am Director, will help all rare disease researchers develop networks to allow translation of their bench findings for patient benefit.”
She and her research group, together with researchers at Lincoln University, developed a gene therapy for one form of the disease (CLN5), which has progressed to clinical trials in humans.
Her laboratory also developed human stem cell technologies to better model human conditions, and which can be used to study other disorders such as Alzheimer's disease.
– Kōrero by Claire Grant, Communications Advisor, School of Biomedical Sciences
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