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Gene discovery further unravels mysteries of complex disease
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September 17, 2004
Finding the genes that cause a rare disorder, whose traits are linked to more common diseases such as obesity and kidney disease, is like looking for a needle in a haystack. But an international team of researchers, including SFU molecular biologist Willie Davidson, is finding those genetic needles with graduate help.
“It's getting more difficult because we have isolated all of the genes associated with parts of the human genome known to be involved in the transmission of Bardet-Biedl syndrome (BBS),” explains Davidson. “But there are BBS families without mutations in these genes.” Davidson and his colleagues recently located an eighth gene that causes BBS, a multisystemic hereditary disorder that affects one in 160,000 people worldwide. This is the team's second discovery of a BBS gene this year.
One of Davidson's doctoral students, Yanli Fan, and another from molecular biologist Michel Leroux's lab, Muneer Esmail, helped the team identify ARL6 or BBS3 as a new gene associated with BBS. The students studied a large complex of Newfoundland families with BBS, in which the ARL6 gene was not functioning properly. The duo's discovery helped their team, which includes three SFU labs, locate three more families worldwide with this newly discovered BBS gene. BBS is ten times more common in Newfoundland than elsewhere, which is why a group of families from that province was studied first.
Fan and Esmail have found that a defective ARL6 gene causes a more severe form of BBS than the other known BBS genes. The team's findings have been published in the journal Nature Genetics, 15 August 2004; doi:10.1038/ng1414 or
www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v36/n9/full/ng1414.html
-30-
(electronic photo available)
Websites:
Dept of Molecular Biology & Bioscience, WilliamDavidson: www.sfu.ca/mbb/mbb/faculty/davidson/davidson.html
Dept of Molecular Biology & Bioscience, Michael Leroux: www.sfu.ca/mbb/mbb/faculty/leroux/leroux.htm
“It's getting more difficult because we have isolated all of the genes associated with parts of the human genome known to be involved in the transmission of Bardet-Biedl syndrome (BBS),” explains Davidson. “But there are BBS families without mutations in these genes.” Davidson and his colleagues recently located an eighth gene that causes BBS, a multisystemic hereditary disorder that affects one in 160,000 people worldwide. This is the team's second discovery of a BBS gene this year.
One of Davidson's doctoral students, Yanli Fan, and another from molecular biologist Michel Leroux's lab, Muneer Esmail, helped the team identify ARL6 or BBS3 as a new gene associated with BBS. The students studied a large complex of Newfoundland families with BBS, in which the ARL6 gene was not functioning properly. The duo's discovery helped their team, which includes three SFU labs, locate three more families worldwide with this newly discovered BBS gene. BBS is ten times more common in Newfoundland than elsewhere, which is why a group of families from that province was studied first.
Fan and Esmail have found that a defective ARL6 gene causes a more severe form of BBS than the other known BBS genes. The team's findings have been published in the journal Nature Genetics, 15 August 2004; doi:10.1038/ng1414 or
www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v36/n9/full/ng1414.html
-30-
(electronic photo available)
Websites:
Dept of Molecular Biology & Bioscience, WilliamDavidson: www.sfu.ca/mbb/mbb/faculty/davidson/davidson.html
Dept of Molecular Biology & Bioscience, Michael Leroux: www.sfu.ca/mbb/mbb/faculty/leroux/leroux.htm