Matthew Adams

Matt is a postgraduate in Clinical Neuroscience.  While studying for a BSc in Neuroscience at Keele University, Matt developed an interest in the clinical aspect of sciences, which led to his enrolment in the Clinical Neuroscience MSc program at UCL.  During his time at UCL, Matt collaborated with staff at the Institute of Neurology. Providing genetic diagnosis for patients with rare neuromuscular disorders within the UK and India. This project identified new cases of PYROD1-associated myopathies, including both expanding the currently understood phenotype of patients and identifying a new splice-altering variant. Through this research, Matt developed a strong passion for genomics in rare diseases, especially neurodevelopment and neuromuscular conditions. Matt is interested in improving the diagnosis of these rare diseases alongside exploring potential therapeutics