8 dossier(s) trouvé(s) portant l’étiquette "genetics" (les projets pluriannuels sont regroupés):
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RHD Alleles in Prenatal Patients from Northern Canada
chercheur principal: Hannon, Judith L
Année(s) de permis: 2014 2013 2012 2011 2006
Résumé: The objectives of this research project are to confirm that the RhD phenotype is appropriately assigned in a population of prenatal patients that has not been studied for the presence of variant RhD gene alleles that would require them to be assigned an Rh-negative status and treated with Rh immune globulin. Samples will be selected for analysis among prenatal samples from the Northwest Territo...


Examining DNA Fingerprinting as an Epidemiology Tool in the Northwest Territories
chercheur principal: Case, Cheryl A
Année(s) de permis: 2010
Résumé: The questions posed are: 1. Did genotyping identify unknown TB contacts or transmissions among cases studied? Examination of the genotype of each isolate of M. tuberculosis from reported cases in the NWT may identify epidemiological links among the studied cases not previously identified through conventional contact tracing. The study will quantitatively review epidemiological links established ...


Should Newborn Screening be Initiated in the Northwest Territories for Mild CPT1 (Carnitine Palmitoyl Transferase-1) Deficiency?
chercheur principal: Arbour, Laura
Année(s) de permis: 2010 2009 2008 2007
Résumé: The goals of this proposed study are: (1) To determine how common a particular genetic change, known as the P479L variant, is in NWT (2) To determine whether the P479L variant is associated with an increased risk for infant death and (3) To share results with the Medical Officers of Health and appropriate community and public health representatives in NWT to determine whether newborn screening for...


Genetic Study of Bardet-Biedl Syndrome and Related Disorders
chercheur principal: Heon, Elise
Année(s) de permis: 2006 2005
Résumé: Bardet-Biedl Syndrome (BBS) is a multi-system condition that leads ultimately to blindness. This condition is also linked to shortened life expectancy due to kidney failure. Genital, digit and renal anomalies, obesity and a variable degree of cognitive impairment also characterize this disorder. The researchers have identified the genetic basis of BBS in Rae-Edzo. This study, which will be at leas...


The Genetic Basis of Seronegative Spondyloarthropathy in the Northwest Territories
chercheur principal: Pimstone, Simon Neil
Année(s) de permis: 1997
Résumé: This study is to determine the underlying cause of arthritis in the NWT. It will be done in two phases. Phase 1: Pilot study which will take approximately 2-5 days. A rheumatologist and a geneticist will travel to Fort Providence to set up a clinic for all patients in the community who have been treated previously for arthritis. On each patient, an examination, blood test and basic hip/lower back...


Investigation of Genetic Polymorphism of Drug Metabolism in Canadian Inuit
chercheur principal: Rode, Andris
Année(s) de permis: 1995
Résumé: The study requires the subject to swallow a harmless "marker" substance (similar to cough syrup) at bedtime, followed by the collection of subject's total urine output over the next 8-12 hours. The urine will be analysed to see how well the subject's body metabolised or used the marker and whether the subject is a "good" or "poor" drug metaboliser. Blood samples will be taken to determine the gene...


Finding a gene for Bardet-Biedl Syndrom
chercheur principal: Musarella, Maria A.
Année(s) de permis: 1992
Résumé: We plan to study Bardet-Biedl families (with at least 2 affected children) in order to determine if and how the disease is genetically linked. By following the inheritance of a DNA marker in affected families, it is possible to determine whether the disease is gene genetically linked to the DNA marker. A systematic screening of DNA markers (that are distributed over the 22 chromosomes) should th...


Licence #2724
chercheur principal: Cameron, Moira
Année(s) de permis: 1982
Résumé: To undertake a study of inborn and genetic (hereditary) diseases and malformations between the years 1976-1981....


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