Childhood movement disorders
Dr Joanne Ng is leading preclinical studies to develop gene therapy for childhood parkinsonism called Dopamine Transporter Deficiency syndrome. This disorder was characterised by Dr Manju Kurian, UCL Ormond Hospital Institute of Child Health.
Dr Joanne Ng and her team focus on translation of viral gene therapy for untreatable childhood movement disorders. Dr Ng trained in paediatric neurology at Great Ormond Street Hospital and has specialist interest in childhood movement disorders and neurotransmitter disorders. Many childhood neurological disorders are untreatable and there is clear medical need to develop new treatment approaches for these life-limiting and debilitating diseases. Dr Ng was awarded an MRC Fellowship to develop a gene therapy approach for Dopamine Transporter Deficiency Syndrome.
Dopamine Transporter Deficiency Syndrome
Dopamine Transporter Deficiency Syndrome is a primary neurotransmitter disorder that causes childhood parkinsonism. Childhood parkinsonism, though rare is under-recognised and commonly misdiagnosed as cerebral palsy and causes clinical symptoms of tremor, muscle rigidity and bradykinesia (slowness of movements). There are many genetic forms of childhood parkinsonism including Dopamine transporter deficiency syndrome.
Dopamine transporter deficiency syndrome classically causes a progressive infantile onset parkinsonism-dystonia movement disorder. This was characterised by Dr Manju Kurian who identified the classical clinical features and the genetic cause. Atypical presentations including juvenile and early onset Parkinson’s disease clinical features are now recognised. Dr Ng is working with Drs Kurian and Waddington to develop adeno-associated viral (AAV) vectors for the treatment of this devastating and incurable condition.
Dr Ng’s work in developing a preclinical AAV gene therapy to treat Dopamine transporter deficiency syndrome have resulted in her being awarded the British Society of Gene and Cell therapy Fairbairn and Otto Wolff Neuroscience Symposium Prize in 2016. This research is also funded by Great Ormond Street Hospital Children’s Charity and The Rosetrees Trust.