Rare Genetic Eye Disease Discovery Could Have Implications For More Common Medical Disorders

Main Category: Eye Health / Blindness
Also Included In: Genetics
Article Date: 01 Aug 2007 - 17:00 PDT

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Halifax, July 2007: Schnyder crystalline corneal dystrophy (SCCD) is an inherited eye disease that can cause blindness. Although studies of SCCD carried out by research groups in the United States were able to determine the general location of the Schnyder gene, its exact identity remained frustratingly elusive. Until now.

As part of the Atlantic Medical Genetics and Genomics Initiative (AMGGI), a team of Dalhousie Medical School scientists working with clinicians from the Queen Elizabeth II Health Sciences Centre and IWK Health Centres studied the DNA of a large Nova Scotia family affected with SCCD. The result: AMGGI scientists have now pinpointed the gene responsible for the disease, a gene identified as UBIAD1 but not previously known to play a role in any human genetic disorder.

Although Schnyder Dystrophy itself is a rare disorder, this discovery could have exciting implications for the treatment of more common disorders, like heart attack, stroke and cancer. "We anticipate that this gene plays a role in other biological processes," says AMGGI scientist Dr. Mark Samuels. "Its structure, combined with the results of other non-genetic studies, suggests potential links to cholesterol metabolism and/or cancer". Other genetic disorders involving errors in cholesterol metabolism lead to a similar clinical picture, consistent with such a role for UBIAD1. In follow-up studies, the team will be looking in more detail at the function of this gene and its role in various physiological processes."

"The AMGGI project is unique in that it looks at many diseases simultaneously and requires the collaboration of both basic and clinical scientists working throughout the Atlantic Provinces" says Dr. Steven Armstrong, President and CEO, Genome Atlantic. "It is an example of how governments, universities, hospitals, research foundations and other not-for-profit organizations can work together in order to make important discoveries that improve not only the health of Atlantic Canadians, but can also enable positive socio-economic impact ."

Project sponsors see this as a major milestone. "This is one in a series of original discoveries made by our genetics group which has the potential to cure disease and alleviate suffering" says Dr Alan Cruess, head of Ophthalmology and Visual Sciences at Dalhousie Medical School and Capital Health. "We have a brilliant group of clinicians and scientists all collaborating in a most productive way - putting Dalhousie and our teaching hospitals on the world map of genetic discovery" Dr. Jonathan B. Kronick, Head, Department of Pediatrics, IWK agrees. "I am delighted about yet another gene discovery by the scientists and physicians working in the Faculty of Medicine, the Department of Pediatrics Medical Genetics Division and the IWK Health Centre. The collaborative efforts of the members of the AMGGI illustrate the power of working together to improve the health of the people of Atlantic Canada. I expect more good news coming from the AMGGI in the near future."

AMGGI is a unique initiative to systematically identify genes and genetic mutations underlying familial, monogenic disorders arising in populations and communities throughout the Atlantic Provinces. The research program links human genetic research efforts in Newfoundland, based at Memorial University, with activities encompassing the three Maritime Provinces centred at Dalhousie University. This Genome Atlantic managed project was made possible through funding by: Genome Canada, the Nova Scotia Health Research Foundation, Dalhousie University, Nova Scotia Research Innovation Trust, IWK Health Centre, Capital District Health Authority, Glaucoma Research Foundation, Memorial University Faculty of Medicine, National Institutes of Health (USA), Marshfield Clinic, Janeway Childrens Hospital Foundation, Newfoundland and Labrador Centre for Applied Health Research, Department of Health and Community Services, St. Jude Medical, Canadian Helicopters, Industrial Research and Innovation Fund NL, Memorial University Faculty of Medicine (ORGS) and Memorial University VP. More information on this project can be found on the AMGGI website: http://www.AMGGI.ca.

With over $40 million committed to projects to date, Genome Atlantic invests in and supports the management of outstanding genomics research with commercial potential.

Orr A, Dubé M-P, Marcadier J, Jiang H, Federico A, et al (2007)
Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy.
PLoS ONE 2(8): e685. doi:10.1371/journal.pone.0000685
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