Audrey K S Soo’s research while affiliated with Great Ormond Street Hospital for Children NHS Foundation Trust and other places

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Publications (2)


The role of manganese dysregulation in neurological disease: emerging evidence
  • Literature Review

November 2021

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68 Reads

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68 Citations

The Lancet Neurology

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Serena Barral

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Audrey K S Soo

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Manju A Kurian

Manganese is an essential trace metal. The dysregulation of manganese seen in a broad spectrum of neurological disorders reflects its importance in brain development and key neurophysiological processes. Historically, the observation of acquired manganism in miners and people who misuse drugs provided early evidence of brain toxicity related to manganese exposure. The identification of inherited manganese transportopathies, which cause neurodevelopmental and neurodegenerative syndromes, further corroborates the neurotoxic potential of this element. Moreover, manganese dyshomoeostasis is also implicated in Parkinson's disease and other neurodegenerative conditions, such as Alzheimer's disease and Huntington's disease. Ongoing and future research will facilitate the development of better targeted therapeutical strategies than are currently available for manganese-associated neurological disorders.


Precision medicine approaches in childhood genetic movement disorders. CMZ, carbamazepine.
Genetic therapies for precision medicine. AAV, adeno‐associated virus.
Precision medicine for genetic childhood movement disorders
  • Literature Review
  • Full-text available

March 2021

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197 Reads

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5 Citations

Increasingly effective targeted precision medicine is either already available or in development for a number of genetic childhood movement disorders. Patient‐centred, personalized approaches include the repurposing of existing treatments for specific conditions and the development of novel therapies that target the underlying genetic defect or disease mechanism. In tandem with these scientific advances, close collaboration between clinicians, researchers, affected families, and stakeholders in the wider community will be key to successfully delivering such precision therapies to children with movement disorders. What this paper adds Precision medicine for genetic childhood movement disorders is developing rapidly. Accurate diagnosis, disease‐specific outcome measures, and collaborative multidisciplinary work will accelerate the progress of such strategies.

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Citations (2)


... 27,28 Despite its broad impact on health, effective treatments for Mn-related disorders are currently very limited. 29 The lack of precision therapies that can either modify or cure such diseases is partly attributable to our incomplete understanding of both the intricate mechanisms that regulate Mn homeostasis and the molecular and cellular sequelae of Mn imbalance. ...

Reference:

A humanized neuronal model system reveals key roles for manganese in neuronal endocytosis, calcium flux and mitochondrial bioenergetics
The role of manganese dysregulation in neurological disease: emerging evidence
  • Citing Article
  • November 2021

The Lancet Neurology

... Personalized medicine approaches are also being increasingly utilized to treat movement disorders [171]. By identifying genetic markers, biomarkers, and other factors that influence disease progression and treatment response, healthcare providers can tailor treatments to individual patients for better outcomes. ...

Precision medicine for genetic childhood movement disorders