Dorine Bax

Dr. Dorine Bax is a Researcher at the School of Biological and Medical Sciences, Oxford Brookes University. She serves as Research Co-ordinator for 'The Genetics Of Eye and Brain Anomalies Study' led by Professor Nicola Ragge, overseeing family participation and coordinating research activities within the Molecular Genetics of Human Eye Development research group.

Her research focuses on genetic mutations underlying developmental eye disorders, including:

• Genotype-phenotype correlations in congenital eye anomalies
• Functional characterization of novel genetic variants
• Molecular mechanisms of eye development
• Wnt signaling pathway involvement in ocular malformations

Key publication trends show interdisciplinary research bridging genetics, molecular biology, and ophthalmology, with significant contributions to understanding:

• Mutational hotspots in genes like GJA8 and ALDH1A3
• Variable expressivity in developmental disorders
• Conserved non-coding sequences in eye development
• Multi-omics approaches to ocular malformations