Julia Baptista

Dr. Julia Baptista is an Honorary University Fellow at the University of Plymouth's Peninsula Medical School (Faculty of Health). Her work bridges clinical service and research in genetics and genomics, particularly in diagnosing rare genetic diseases and identifying novel disease genes. She previously led MSc programs in Healthcare Management and Patient Safety until April 2022. Her research focuses on genetic variants linked to neurodevelopmental disorders, rare syndromes, and molecular diagnostics. She has contributed to advancing exome sequencing techniques and clinical education for healthcare professionals.

Her research interests include identifying genetic causes of rare diseases, improving diagnostic accuracy, and understanding mitochondrial dysfunction in neurological conditions. She has collaborated on projects involving trio exome sequencing, external quality assessments, and syndrome characterization. Her work often involves interdisciplinary approaches to translate genetic findings into clinical practice.

Dr. Baptista has held roles as an Honorary Lecturer in Genomic Medicine, Rare Disease Scientific Lead, and Faculty member at the European School of Genetic Medicine. She now serves as a Scientific Training Officer and Clinical Scientist at King's College Hospital in London. Her contributions include over 50 peer-reviewed articles on genetic variants, syndromic disorders, and precision medicine.