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Experts

Disclaimer: PFOND Expert Pages are produced by volunteer editors. PFOND does not have any affiliation with the people listed on these pages. Volunteer editors typically populate these pages by searching in publicly available resources. If you are listed on a PFOND Expert Page and would like your listing removed or modified please contact us.

Cheryl Gregory-Evans, PhD.

Dr. Gregory-Evans is focused on understanding the molecular control mechanism in developmental defects of the eye and central nervous system by using animal models such as the zebrafish.

Elizabeth M. Simpson, Ph.D.

Senior Scientist, CMMT at CFRI
Professor, Department of Medical Genetics, UBC
Associate Member, Department of Pyschiatry, UBC

Dr. Simpson research focus is on mouse models of developmental brain and behaviour disorders, stem cells and neurogenesis, and gene therapy.

James D. Lauderdale, Ph.D.

Principal Investigator,
Assistant Professor, Department of Cellular Biology,
College of Arts and Sciences, University of Georgia

Dr. Lauderdale study aniridia in humans and the Small eye trait in rodents. Small eye is the mouse model for aniridia. Aniridia and Small eye are both resulted from mutations in the PAX6 gene. Dr. Lauderdale’s long-term goal is to develop therapies that can correct genetic and acquired to the CNS.

Partial loss-of-function PAX6 mutations cause eye malformations in mammals. Complete mutations result in absence of the eyes and nose, loss of forebrain structures, disruption of axon tracts, abnormal neuronal migration, and misspecification of neurons.

Dr. Lauderdale have also identified a novel gene, tentatively named La Femme d’à Coté (LFDC), that is disrupted in some of these cases. This gene is also present in rodents, zebrafish, fruit fly, and worms (C. elegans). In mice, LFDC is expressed both in the developing eye and in discrete domains within the developing CNS. This expression pattern suggests that, like Pax6, LFDC may have multiple roles in neural development.

Zebrafish embryos are used for detailed studies of the mechanisms underlying development of the forebrain because they develop rapidly, are transparent, and have a relatively simple, extensively characterized nervous system. These characteristics facilitate visualization of developing brain regions, including specific neurons and their axons. Additionally, zebrafish embryos can be manipulated experimentally with many different ways.

 

For more information see: http://www.visionfortomorrow.org/research-lauderdale/

John A. Crolla, PhD

In collaboration with Dr Veronica van Heyningen, Dr. Crolla  uses FISH to determine the overall frequency of chromosomal mutations in patients ascertained with aniridia.

The project goal is to determine the overall number of chromosomal mutations causing PAX6 haploinsufficiency, and will also identify the number of  deletions of neighboring gene(s) that prevent PAX6 expression.

Kevin Gregory-Evans, M.D., Ph.D.

Julia Levy BC Leadership Chair in Macular Research, Dept. of Ophthalmology, Univ. of British Columbia.

Dr. Gregory-Evans specializes in genetics and cell therapies for diseases of the eye.

For more information see: http://www.med.ubc.ca/media/CIHR_macular_degeneration_grant.htm

Peter A. Netland, M.D., Ph.D.

M.D., Ph.D.

Professor and Chairman of the Department of Ophthalmology at the University of Virginia Health System.

http://www.pax6.org/physician/Ask_The_Doctor.pdf

Robert Chow,Ph.D.

Canada Research Chair in Retinal and Early Eye Development and Assistant Professor, Dept. Biology, Univ. of Victoria.

Dr Chow’s research focus is on mechanisms underlying cell type diversity in the vertebrate retina.

For more information see: http://cbr.uvic.ca/index.php?option=com_content&task=view&id=47&Itemid=68

Robert Grainger, Ph.D.

W.L. Lyons Brown Professor of Biology in the Department of Biology at the University of Virginia

Dr. Grainger uses frog to study how the eye develops. Frog can regenerate a lens and is a good model organism for understanding the mechanism of how genes control formation of eye and other organs. In long term, this study may make it possible for people to manipulate these genes in medical therapies for related disease.

 

For more information see: http://www.virginia.edu/uvatoday/newsRelease.php?id=13252

Sanjay Sisodiya, PhD, FRCP

Professor, Institute of Neurology, University College London;

Honorary Consultant Neurologist, National Hospital for Neurology and Neurosurgery, London, UK

Dr. Sisodiya’s published articles related to aniridia and Pax6:

  • Bamiou, D. E., Campbell, N. G., Musiek, F. E., Taylor, R., Chong, W. K., Moore, A., van Heyningen, V., Free, S., Sisodiya, S., Luxon, L. M. (2007). Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation. International Journal of Audiology 46(4), 196-202 doi:10.1080/14992020601175952. Author URL
  • Bamiou, D. E., Free, S. L., Sisodiya, S. M., Chong, W. K., Musiek, F., Williamson, K. A., van Heyningen, V., Moore, A. T., Gadian, D., Luxon, L. M. (2007). Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations. Archives of Pediatrics and Adolescent Medicine 161(5), 463-469 doi:10.1001/archpedi.161.5.463. Author URL
  • Henderson, R. A., Williamson, K., Cumming, S., Clarke, M. P., Lynch, S. A., Hanson, I. M., Fitzpatrick, D. R., Sisodiya, S., van Heyningen, V. (2007). Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. European Journal of Human Genetics 15(8), 898-901 doi:10.1038/sj.ejhg.5201826. Author URL

Veronica van Heyningen, DPhil, FRS, FRSE, FMedSci.

Honorary Professor University of Edinburgh
Group Leader, MRC Human Genetics Unit

The non-invasive functional studies in humans provide information not available from model organism, but most human developmental genes need to be explored in model systems. Dr. Heyningen’s group has identified several genes whose mutation can lead to overlapping patterns of developmental eye abnormalities by using model organisms. These genes work in the same pathways.

The group is studying the roles of PAX6 and SOX2 in humans, mice and zebrafish and has started studying the mechanisms of long-range regulation of gene expression since early 90’s. Transcription factors like PAX6 show complex spatiotemporal and quantitative control of expression, the regulatory regions are found both within and away from the gene. Dr. Heyningen’s group is aiming to understand the spatial and functional organisation of different interacting elements, additively recapitulating the sum of the total gene expression pattern.