Memorial University of Newfoundland

About: Memorial University of Newfoundland is a education organization based out in St. John's, Newfoundland and Labrador, Canada. It is known for research contribution in the topics: Population & Context (language use). The organization has 13818 authors who have published 27785 publications receiving 743594 citations. The organization is also known as: Memorial University & Memorial University of Newfoundland and Labrador.

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

Abstract: Inherited monogenic disease has an enormous impact on the well-being of children and their families. Over half of the children living with one of these conditions are without a molecular diagnosis because of the rarity of the disease, the marked clinical heterogeneity, and the reality that there are thousands of rare diseases for which causative mutations have yet to be identified. It is in this context that in 2010 a Canadian consortium was formed to rapidly identify mutations causing a wide spectrum of pediatric-onset rare diseases by using whole-exome sequencing. The FORGE (Finding of Rare Disease Genes) Canada Consortium brought together clinicians and scientists from 21 genetics centers and three science and technology innovation centers from across Canada. From nation-wide requests for proposals, 264 disorders were selected for study from the 371 submitted; disease-causing variants (including in 67 genes not previously associated with human disease; 41 of these have been genetically or functionally validated, and 26 are currently under study) were identified for 146 disorders over a 2-year period. Here, we present our experience with four strategies employed for gene discovery and discuss FORGE's impact in a number of realms, from clinical diagnostics to the broadening of the phenotypic spectrum of many diseases to the biological insight gained into both disease states and normal human development. Lastly, on the basis of this experience, we discuss the way forward for rare-disease genetic discovery both in Canada and internationally.

Avian Haematozoa: mortality and pathogenicity

Abstract: A review of 5640 articles on avian blood parasites showed that 236 reported mortality or gross pathogenicity in birds, and 89% of them were concerned with mortality in domesticated birds and how to control the blood parasites involved. Only 6% of records concerned birds in zoological gardens; the remainder referred to mortality in wild birds.

ICTV Virus Taxonomy Profile: Parvoviridae.

Abstract: Members of the family Parvoviridae are small, resilient, non-enveloped viruses with linear, single-stranded DNA genomes of 4–6 kb. Viruses in two subfamilies, the Parvovirinae and Densovirinae, are distinguished primarily by their respective ability to infect vertebrates (including humans) versus invertebrates. Being genetically limited, most parvoviruses require actively dividing host cells and are host and/or tissue specific. Some cause diseases, which range from subclinical to lethal. A few require co-infection with helper viruses from other families. This is a summary of the International Committee on Taxonomy of Viruses (ICTV) Report on the Parvoviridae, which is available at www.ictv.global/report/parvoviridae.

Mutations in MKKS cause Bardet-Biedl syndrome.

Abstract: Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with locus heterogeneity5,6,7,8,9. None of the ‘responsible’ genes have previously been identified. Some BBS cases (approximately 10%) remain unassigned to the five previously mapped loci10. McKusick-Kaufma syndrome (MKS) includes hydrometrocolpos, postaxial polydactyly and congenital heart disease, and is also inherited in an autosomal recessive manner11,12. We ascertained 34 unrelated probands with classic features of BBS including retinitis pigmentosa (RP), obesity and polydactyly. The probands were from families unsuitable for linkage because of family size. We found MKKS mutations in four typical BBS probands (Table 1). The first is a 13-year-old Hispanic girl with severe RP, PAP, mental retardation and obesity (BMI >40). She was a compound heterozygote for a missense (1042G→A, G52D) and a nonsense (1679T→A, Y264stop) mutation in exon 3. Cloning and sequencing of the separate alleles confirmed that the mutations were present in trans. A second BBS proband (from Newfoundland), born to consanguineous parents, was homozygous for two deletions (1316delC and 1324-1326delGTA) in exon 3, predicting a frameshift. An affected brother was also homozygous for the deletions, whereas an unaffected sibling had two normal copies of MKKS. Both the proband and her affected brother had RP, PAP, mild mental retardation, morbid obesity (BMI >50 and 37, respectively), lobulated kidneys with prominent calyces and diabetes mellitus (diagnosed at ages 33 and 30, respectively). A deceased sister (DNA unavailable) had similar phenotypic features (RP with blindness by age 13, BMI >45, abnormal glucose tolerance test and IQ=64, vaginal atresia and syndactyly of both feet). Both parents and the maternal grandfather were heterozygous for the deletions. Genotyping with markers from the MKKS region12 confirmed homozygosity at 20p12 in both affected individuals.

The effect of annealing on the physicochemical properties of wheat, oat, potato and lentil starches

Abstract: Native wheat, oat, potato and lentil starches were annealed at various starch/water ratios at 50C for time intervals ranging from 0.5 to 72 h. Annealing did not change granule size and shape. Oat starch granules were less compactly packed after annealing. X-ray diffraction patterns remained unchanged and X-ray intensities changed only marginally in all starches. The swelling factor (SF), amylose leaching (AML) and the gelatinization temperature range (GTR) decreased on annealing. The extent of decrease in SF and AML followed the order: lentil > wheat > potato > oat, while the corresponding order for GTR was: wheat > lentil > oat > potato. The gelatinization transition temperatures (GTT) and enthalpy (ΔH) increased on annealing. However, the increases in GTT and ΔH did not begin concurrently during the time course of annealing. Increases in ΔH were slower and were evident only after 1, 2, 6 and 48 h, respectively, in lentil, potato, oat and wheat starches. The extent and rate of increase in GTT and ΔH followed the order: potato > lentil > wheat > oat. The magnitude of changes in GTT and ΔH increased with increase in annealing moisture content. The susceptibility of oat starch to enzyme and acid hydrolysis increased on annealing. However, decreases occurred in the other starches (lentil > wheat > potato). Thermal and shear stability of starch granules increased on annealing (potato > lentil > wheat > oat). The results showed that the above changes in physicochemical properties were due to increased interaction between starch components during annealing.