Pacific Northwest Genetics Exchange (Seattle Exchange)

Chan Auditorium & Atrium

Child & Family Research Institute, Children’s and Women’s Health Center of B.C.

Friday, May 3, 2013 @ 9:30 am – 4:00 pm

Schedule

Time / Talk/Author(s)
9:30 – 9:55 am
9:55 – 10:00 am / Coffee and Muffins
Welcome – Dr. Barbara McGillivray, Medical Director
10:00 – 10:15 am / Evica Rajcan-Separovic, MD, Vancouver
“Functional consequences of uncertain microarray findings”
Author
Evica Rajcan-Separovic
10:15 – 10:30 am / Jennifer Nuk, Genetic Counsellor, Vancouver
“Hereditary Paraganglioma: investigating an unexpected phenotype”
Author
Jennifer Nuk
10:30 – 10:45 am / James Bennett, MD,Seattle
'Exome sequencing and MIPS identify GATA6 as a novel gene responsible for congenital diaphragmatic hernia"
Authors
James Bennett, Gemma Carvill, Heather Mefford, Bill Dobyns, Lan Yu, and Wendy Chung
10:45 – 11:00 am / Gudrun Aubertin, MD, and Tanya Nelson, PhD, Vancouver
“Fragile X syndrome in BC and across Canada: the Canadian Pediatric Surveillance Program”
Author
Gudrun Aubertin
11:00 – 11:15 am / Ana S.A. Cohen, Vancouver
“Mutational analysis of EZH2 in patients with Weaver and Weaver-like syndromes”
Authors
Ana S.A. Cohen, Siaohua Han, Janne Denny, Jieqing Xu, Katelin Townsend, Damian B. Yap, Samuel A.J.R. Aparico, Colin J.D. Ross, William T. Gibson
11:15 – 11:30 am / Samantha Hansford, Vancouver
“Hereditary Diffuse Gastric Cancer: Beyond CDH1 Mutationas”
Author
Samantha Hansford
11:30 – 11:45 am / Thao Tran, MD, Seattle
“Unexpected homozygous mutation in COL1A2”
Author
Thao Tran
11:45 am – 12:00 pm / Hyun Lee, Vancouver
“Women’s preferences in prenatal testing for Down syndrome during pregnancy”
Authors
Hyun Lee, Karan Sangha, Sylvie Langlois (Melissa Hill, Lyn Chitty)
12:00 – 1:00 pm / Lunch
1:00 – 1:15 pm / William Dobys, MD, Seattle
“Updated rules for recognizing mosaic disorders”
Author
William Dobyns
1:15 – 1:30 pm / Ghayda Mirzaa, MD, Seattle
“Further insights into P13K-AKT associated megalencephaly syndromes”
Authors
Ghayda M. Mirzaa and William B. Dobyns
1:30 – 1:45 pm / Shawna M. Pyott, PhD, Seattle
“WNT1 mutations in families with moderately severe and progressive recessive osteogenesis imperfecta”
Author
Shawna M. Pyott
1:45 – 2:00 pm / Michael Raff, MD, Seattle
“Digemic triallelic childhood ataxia involving the CACNA1A and TGM6 genes”
Authors
Mihcael Raff, Julie Simon
2:00 – 2:15 pm / Lillian Sawyer, Seattle
“Pediatric chromosomal microarray use in a regional non-academic multi-specialty group practice: ordering frequency, diagnostic yield , and gendering skewing”
Authors
Lillian Sawyer, Julie Simon, Roger Fick, Michael Raff
2:15 – 2:30 pm / Karla Bretherick, Vancouver
“Endothelin converting enzyme 1 mutation in a family with autonomic dysfunction”
Authors
Bretherick KL, Horvath GA, McGillivray BC, Sanatani S, Brooks-Wilson AR, Lehman A
2:30 – 2:45 pm / Break
2:45 – 3:00 pm / Kirsten Hogg, Vancouver
"Placental epigenetic landscape of stress and hormonal pathways in pre-eclampsia"
Author
Kirsten Hogg, John Blair, Deborah McFadden, Peter von Dadelszen, Wendy Robinson
3:00 – 3:15 pm / Irina Manokhina, MD, Vancouver
“Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage”
Authors
Manokhina I, Hanna CW, Stephenson MD, McFaddenDE, Robinson WP
3:15 – 3:30 pm / Andrew Fam, Vancouver
“Elucidating Tdp1 function in the mitochondria”
Author
Andrew Fam
3:30 – 3:45 pm / Casper Shyr, Vancouver
“A simulation-based approach to evaluating user interface design for clinical exome analysis”
Authors
Casper Shyr, Wyeth Wasserman
3:45 – 4:00 pm / Closing

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