Dr. Reza Maroofian, PhD
Geneticist
UCL Queen Square Institute of Neurology, London, UK
Biography
Dr. Reza Maroofian is a geneticist at the UCL Queen Square Institute of Neurology, where he specializes in the genetic and clinical characterization of hereditary neurological disorders. He earned his PhD from St. George's University of London and the University of Exeter in 2018. Since joining the Queen Square Neurogenetics Lab, he has dedicated his career to studying rare diseases, with a particular focus on uncovering the genetic causes of undiagnosed or challenging-to-diagnose conditions, particularly in children and young adults.
Through his investigation of genetic disorders, he seeks to gain deeper insights into the underlying biology of these diseases and the functioning the nervous system. His ultimate goal is to translate this knowledge into a more comprehensive understanding of both rare and more common neurological conditions, ultimately leading to the development of more effective strategies for prevention and innovative treatments.
He has had the privilege of leading or co-leading international collaborations that have identified several ultra-rare conditions, significantly contributing to the establishment of a global network for research on rare disorders. He is a strong advocate for multifaceted, multidisciplinary approaches, as well as the open sharing of data, skills, and resources to advance scientific discovery. Over the past decade, he has championed the initiation of studies in underrepresented populations and has actively engaged with the public to raise awareness about the importance of rare disease research.
In addition to his research, he is deeply committed to science communication and public engagement, aiming to bridge the gap between complex genetic research and broader societal understanding. He is also dedicated to the education and mentorship of postgraduate students and clinical and non-clinical fellows, helping to shape the next generation of scientists and healthcare professionals. His work has been featured in prestigious medical and biomedical journals, underscoring his dedication to advancing our understanding of rare diseases and improving patient outcomes.
Education & Academic Qualifications
- PhD in Genetics (2018) | St. George's University of London & University of Exeter, UK
Professional Experience & Research Focus
- Research Fellow / Geneticist | Queen Square Neurogenetics Lab, UCL Queen Square Institute of Neurology
- International Collaborations | Co-lead in identifying several ultra-rare neurological conditions
- Advocacy & Engagement | Championing genetic studies in underrepresented populations and public science communication