Dr Stephanie Hughes

Dr Stephanie Hughes specialises in Batten disease, a childhood disease that shares clinical features with Alzheimer’s and Parkinson’s disease, blindness and epilepsy.

Dr Stephanie Hughes specialises in Batten disease, a childhood disease that shares clinical features with Alzheimer’s and Parkinson’s disease, blindness and epilepsy. Batten disease is genetic, with at least 13 different forms caused by mutations in different genes.

In her lab, she along with her team study how mutations cause clinical symptoms in three disease forms, developing new human cell culture models and testing new drugs and gene therapy approaches for treatment.



Research Projects



The kids who inspire this research

Angus

Brave ambassador Angus was diagnosed with Neurofibromatosis Type 1 at age four.

Learn More

Brooke

At six years old our brave ambassador Brooke started to have what her parents describe…

Learn More

Caleb

In 2012, Caleb began to feel dizzy and experienced tunnel vision while playing sports.…

Learn More

Cherokee

Cherokee was first diagnosed with a malignant tumour in her central nervous system.

Learn More

Connor Lehan

Connor was initially labeled as a ‘problem child’ during his kindergarten years. He was…

Learn More

Connor Morton

Connor was only a year-old when he started to experience jolt like symptoms.

Learn More