Medical Field: Pediatrics
Award: Finalist
Country: Croatia
Year: 2024
Research Work: Early Symptoms and Treatment Outcomes in Neuronal Ceroid Lipofuscinosis Type 2: Croatian Experience
Published in: Journal of Personalized Medicine

My research work drives curiosity, the pursuit of personal and professional growth, and the desire to contribute to knowledge. I am very passionate about my field and often find my energy in the excitement of discovery, collaboration with colleagues, and the potential impact on children and families.

 

Jelena Radić Nišević, MD, PhD, is currently working as a Pediatric Neurologist at the Department of Pediatrics at the Clinical Hospital Center of Rijeka, Croatia.

Jelena Radić Nišević, MD, PhD, is a distinguished pediatric neurologist at the Department of Pediatrics, Clinical Hospital Center of Rijeka, Croatia, which also serves as the Reference Center of the Ministry of Health for child epilepsy. After earning her medical degree from the University of Rijeka, she pursued a PhD in child neurology at the same institution. Dr. Radić Nišević’s dedication to advancing knowledge in pediatric neurology is further evidenced by her role in teaching medical students and supervising theses. Since 2017, she has been specializing in child neurology and completed an education on neurological and neurodevelopmental diseases of children at the renowned Great Ormond Street Hospital in London. 

An active member of the European Paediatric Neurology Society and the International League Against Epilepsy, she is well-integrated into the global pediatric neurology community. This professional network allows her to contribute to innovative care for patients, particularly in the realm of rare diseases like neuronal ceroid lipofuscinosis type 2 (CLN2).
 

Advancing care for rare neurodegenerative diseases

Dr. Radić Nišević’s research focuses on neuronal ceroid lipofuscinosis type 2 (CLN2), a rare neurodegenerative disorder that typically manifests in preschool-aged children, leading to seizures and progressive loss of language and motor functions. Without treatment, affected individuals face a rapid decline in health, with blindness and death occurring at the second decade of life.  

This study aims to highlight the early symptoms of CLN2, which are crucial for timely diagnosis and the initiation of treatment. The research emphasizes that early recognition of these symptoms, such as various forms of convulsions, is vital in distinguishing CLN2 from other diseases that present with similar clinical features. By diagnosing the disease early, doctors can begin enzyme replacement therapy with intracerebroventricular cerliponase alfa, which has been shown to slow the deterioration of motor and language functions, ultimately improving the quality of life for affected children and their families.

Dr. Radić Nišević’s team, the only one in Croatia providing this treatment, conducts intraventricular drug replacement every two weeks after making a rapid diagnosis. The study defines the indications for therapy, contraindications and the appropriate time to stop treatment, thus offering clear guidelines for managing CLN2. Furthermore, the research underscores the importance of genetic and enzyme testing in the early identification of the disease, an area that holds great promise for the future of molecular diagnostics. By drawing attention to the challenges of diagnosing and treating rare diseases within the public healthcare system, this study highlights the significant impact of early diagnosis on the prognosis of CLN2 patients. It stresses the need for a multidisciplinary approach that focuses not only on the medical treatment of the patient but also on family support and improving overall quality of life.

This work is important because it raises awareness of rare diseases, especially those that are difficult to diagnose in typical healthcare settings. These diseases often have severe clinical outcomes and poor prognoses, making early and accurate diagnosis essential to reducing the burden on patients, families, and society.

Dr. Radić Nišević’s research advances scientific knowledge on CLN2 while highlighting the challenges of diagnosing rare diseases. By improving understanding and management strategies, this work contributes to better patient outcomes and reduced societal impact.


Dedication to advancing pediatric neurology

For Dr. Radić Nišević, her research is fueled by a deep curiosity and a passion for both personal and professional growth. She is dedicated to advancing medical knowledge, particularly in improving the lives of children and families. The excitement of discovery and collaboration with colleagues drives her daily work. 

Outside of her career, she enjoys traveling, gardening and spending time in nature with her family, who provide her with vital support. From a young age, Dr. Radić Nišević has been motivated by a desire to help others and is fascinated by the challenges of diagnosing and treating diseases.