Brain structure, function, and genetics revealed by studies of the eye and face.
OBJECTIVE
Understanding the structure and function of the human brain is intrinsically interesting and fundamental to improved diagnosis, treatment, and prevention of human neurological diseases, which constitute an increasing global burden. The intimate connections between brain and face, and brain and eye, have been utilized to access brain structure and function. Concepts and recent progress are reviewed here.


RESULTS
Continued work on biological links between brain and eye or face has uncovered further genetic abnormalities causing facial or eye anomalies, which in either case may clearly indicate changes in the underlying brain. Cause and effect can be difficult to disentangle, but the use of conditional animal models can help establish whether brain changes are the result of face or eye changes or the result of a parallel influence on brain and eye or face. The application of newer methods and technologies such as parameterization of facial characteristics and comparative genomic hybridization has led to new discoveries and insights.


CONCLUSIONS
Further interdisciplinary studies into brain structure and function through the windows of the face and the eye, with the application of genome-wide studies in larger cohorts, will potentially enable more discovery and critically may reveal unsuspected therapeutic targets in human disease.
Sisodiya
Sanjay
S
Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK. sisodiya@ion.ucl.ac.uk
D000818:Animals; D001921:Brain / Q000033:anatomy & histology / Q000254:growth & development / Q000502:physiology*; D005123:Eye / Q000254:growth & development / Q000294:innervation; D005124:Eye Abnormalities / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics / Q000378:metabolism; D005145:Face / Q000294:innervation; D019066:Facies; D005786:Gene Expression Regulation / Q000235:genetics / Q000502:physiology*; D018398:Homeodomain Proteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008445:Maxillofacial Development / Q000235:genetics / Q000502:physiology*; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000502:physiology; D009434:Neural Pathways / Q000166:cytology / Q000502:physiology; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics / Q000378:metabolism; D012097:Repressor Proteins / Q000235:genetics / Q000378:metabolism; D014785:Vision, Ocular / Q000502:physiology*
D005136:Eye Proteins; D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins