Trinidadian scientist makes groundbreaking discovery in rare syndrome

Trinidadian Dr Avinaash Vickram Maharaj has made a unique discovery based on research into the causes of a rare syndrome affecting the body’s growth, immune and digestive systems, named the Maharaj Storr Syndrome.  

In an update via social media, the Trinidad and Tobago High Commission, London, highlighted Dr Maharaj’s discovery, made in collaboration with Professor Helen Storr, which sheds light on the genetic cause behind a rare syndrome affecting growth, immunity, and digestive function.

“Named Maharaj-Storr Syndrome, after Dr. Maharaj and his collaborator Professor Helen Storr, this condition is linked to mutations in the QSOX2 gene, which plays a critical role in regulating growth, metabolism, and cellular energy production.

“Dr. Maharaj, a Clinical Postdoctoral Researcher specialising in Paediatric Endocrinology, brings extensive experience in treating complex endocrine conditions, including those related to the growth hormone and insulin-like growth factor (GH/IGF-1) axis.

“His deep knowledge in hormone genetics and specific metabolic pathways, such as the glucocorticoid and sphingolipid systems, laid the groundwork for this discovery.

“Through precise genetic sequencing, Dr. Maharaj and his team uncovered that QSOX2 mutations disrupt crucial cellular processes tied to growth, immunity, and energy use.

“By identifying this gene’s unexpected role in growth regulation and mitochondrial health, he has expanded scientific understanding of how genetic changes impact multiple body systems, particularly the gut and immune response.

“This discovery, published in Nature Communications, is particularly relevant for individuals suffering from short stature, immune challenges, and severe gastrointestinal symptoms.

“As Dr Maharaj continues to explore the gastrointestinal implications of this syndrome, his work holds promise for new therapies, bringing hope to those affected by these complex disorders.”

Dr Maharaj is a Post-Doctoral Clinical Researcher at the Centre for Endocrinology, William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London.  

WHRI one of the largest multidisciplinary pharmacological institutes in Europe with over 530 clinicians and scientists from 45 countries. 

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