60 research outputs found
Efficient CRISPR/Cas9 genome editing in a salmonid fish cell line using a lentivirus delivery system
The present study was funded by were funded by the Biotechnology and Biological Sciences Research Council (BB/R008612/1, BB/S004343/1 to RH and RG; grant BB/R008973/1 to SM and CD) and the Institute Strategic Programme Grants (BBS/E/D/20002172, BBS/E/D/30002275 and BBS/E/D/10002070, to RH and RG). The funders had no roles in the study design, data collection and analysis, decision to publish or preparation of the manuscript.Peer reviewedPublisher PD
The genetic basis of DOORS syndrome: an exome-sequencing study.
Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the genetic basis of this syndrome by sequencing most coding exons in affected individuals
Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework
Across all areas of health care, decision makers are in pursuit of what
Berwick and colleagues have called the âtriple aimâ: improving patient
experiences with care, improving health outcomes, and managing
health system impacts. This is challenging in a rare disease context, as
exemplified by inborn errors of metabolism. There is a need for evaluative
outcomes research to support effective and appropriate care for
inborn errors of metabolism. We suggest that such research should
consider interventions at both the level of the health system (e.g., early
detection through newborn screening, programs to provide access to
treatments) and the level of individual patient care (e.g., orphan drugs,
medical foods). We have developed a practice-
based evidence framework
to guide outcomes research for inborn errors of metabolism.
Focusing on outcomes across the triple aim, this framework integrates
three priority themes: tailoring care in the context of clinical heterogeneity;
a shift from âurgent careâ to âopportunity for improvementâ;
and the need to evaluate the comparative effectiveness of emerging
and established therapies. Guided by the framework, a new Canadian
research network has been established to generate knowledge that will
inform the design and delivery of health services for patients with
inborn errors of metabolism and other rare diseases.This work was supported by a CIHR Emerging Team Grant (âEmerging
team in rare diseases: acheiving the âtriple aimâ for inborn errors
of metabolism,â B.K. Potter, P. Chakraborty, and colleagues, 2012â
2017, grant no. TR3â119195). Current investigators and collaborators
in the Canadian Inherited Metabolic Diseases Research Network
are: B.K. Potter, P. Chakraborty, J. Kronick, D. Coyle, K. Wilson, M.
Brownell, R. Casey, A. Chan, S. Dyack, L. Dodds, A. Feigenbaum, D.
Fell, M. Geraghty, C. Greenberg, S. Grosse, A. Guttmann, A. Khan,
J. Little, B. Maranda, J. MacKenzie, A. Mhanni, F. Miller, G. Mitchell,
J. Mitchell, M. Nakhla, M. Potter, C. Prasad, K. Siriwardena, K.N.
Speechley, S. Stocker, L. Turner, H. Vallance, and B.J. Wilson. Members
of our external advisory board are D. Bidulka, T. Caulfield, J.T.R.
Clarke, C. Doiron, K. El Emam, J. Evans, A. Kemper, W. McCormack,
and A. Stephenson Julian. J. Little is supported by a Canada Research
Chair in Human Genome Epidemiology. K. Wilson is supported by a
Canada Research Chair in Public Health Policy
DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome.
DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have mutations in TBC1D24. We review here the manifestations of patients clinically diagnosed with DOORS syndrome. In this cohort of 32 families (36 patients) we detected 13 individuals from 10 families with TBC1D24 mutations. Subsequent whole exome sequencing in the cohort showed the same de novoSMARCB1 mutation (c.1130G>A), known to cause Coffin-Siris syndrome, in two patients. Distinguishing features include retinal anomalies, Dandy-Walker malformation, scoliosis, rocker bottom feet, respiratory difficulties and absence of seizures, and 2-oxoglutaric aciduria in the patients with the SMARCB1 mutation. We briefly discuss the heterogeneity of the DOORS syndrome phenotype and the differential diagnosis of this condition
Editorial: The role of bypass surgery in isolated left anterior descending artery stenosis or occlusion.
A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing
Pure Vasogenic Edema Caused by Cerebral Hyperperfusion After Superficial Temporal Artery to Middle Cerebral Artery Anastomosis -Case Report-
Habituation of hypothalamicâpituitaryâadrenocortical axis hormones to repeated homotypic stress and subsequent heterotypic stressor exposure in male and female rats
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