Professor Nicolaides Sheds Light on Nicolaides-Baraitser Syndrome

Nicolaides-Baraitser Syndrome (NCBRS) is a ultra-rare genetic disorder named after Paola Nicolaides, Clinical Professor of Paediatric Neurology at the University of Nicosia Medical School, and Clinical Geneticist Michael Baraitser, who first described the syndrome in 1993. The disorder is characterised by distinctive facial features, intellectual disability, epilepsy, and various physical abnormalities. With fewer than 270 confirmed cases worldwide, NCBRS remains a significant focus of medical research and clinical care.

NCBRS is present from birth and typically identified in childhood. The syndrome affects individuals regardless of gender or cultural background. Key features include sparse hair, a prominent forehead, wide-set eyes, a broad nasal bridge, and a wide mouth with a thin upper lip. Intellectual disability ranges from moderate to severe, and affected individuals often experience developmental delays. Epilepsy is a also a key features with patients experiencing frequent pharmaco-resistant seizures. Behavioural challenges and autistic features are also commonly seen. Physical abnormalities include short stature, small hands and feet, joint stiffness and scoliosis.

The syndrome impacts multiple body systems, leading to a variety of health issues including feeding difficulties, and respiratory problems. The prognosis for individuals with NCBRS varies based on the severity of symptoms and the effectiveness of management strategies. While the lifespan of those with NCBRS may be normal, though not enough is known at this stage, their quality of life is significantly affected by the associated disabilities. Currently, there is no cure for NCBRS, and treatment focuses on managing symptoms and improving quality of life.

Professor Nicolaides, who also serves as the co-chair of the Scientific Board of the NCBRS Worldwide Foundation, emphasises the importance of early diagnosis and comprehensive care. “Our goal is to provide families and healthcare professionals with the knowledge and resources needed to manage this complex condition effectively. By fostering a collaborative approach, we can improve the quality of life for those affected by NCBRS,” stated Professor Nicolaides.

In recent years, advancements in genetic research have provided greater insights into the underlying causes of NCBRS. Mutations in the SMARCA2 gene have been identified as the primary cause of the syndrome. This gene plays a crucial role in chromatin remodelling, a process essential for regulating gene expression. Understanding these genetic mechanisms has opened new avenues for potential therapeutic interventions, although much work remains to be done.

The NCBRS Worldwide Foundation, founded in 2016 and based in New Jersey, USA, plays a pivotal role in supporting and educating families, carers, and professionals working with individuals affected by NCBRS. The foundation’s vision is to create a global community where families, healthcare professionals, and researchers collaborate to ensure that every person diagnosed with NCBRS has the opportunity to reach their full potential.

Recently, the foundation organised the “United Again Family Conference NCBRS UK 2024” in London on 8 and 9 June 2024. This event brought together scientific experts and families for a weekend of informative presentations and family-friendly activities. Professor Nicolaides provided a clinical overview of NCBRS, highlighting the latest research and management strategies. The conference underscored the importance of community and support in addressing the challenges posed by this rare genetic disorder.

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