A5075461909- Neurofibromatosis and Schwannoma Cases
- Biotechnology and Related Fields
- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Pharmacogenetics and Drug Metabolism
- Sarcoma Diagnosis and Treatment
- Chromatin Remodeling and Cancer
- Xenotransplantation and immune response
- Organ Transplantation Techniques and Outcomes
- Genetics, Bioinformatics, and Biomedical Research
- Genomics and Phylogenetic Studies
- Soft tissue tumor case studies
- EEG and Brain-Computer Interfaces
- Spinal Cord Injury Research
- CRISPR and Genetic Engineering
- Ethics in Clinical Research
- Statistical Methods in Clinical Trials
- Intestinal and Peritoneal Adhesions
- Chromosomal and Genetic Variations
- Knee injuries and reconstruction techniques
- Axon Guidance and Neuronal Signaling
- Genetic Associations and Epidemiology
- Soft tissue tumors and treatment
- Biosimilars and Bioanalytical Methods
- Scoliosis diagnosis and treatment
Genome Canada
2012-2024
Genome British Columbia
2017-2018
Hospital Universitario Ramón y Cajal
1998-2016
Génome Québec
2012-2016
Universidade Federal do Rio Grande do Sul
2013
Eli Lilly (United States)
2008
KU Leuven
1999-2004
Inserm
2000
Vlaams Instituut voor Biotechnologie
2000
Neurofibromatosis type 1 (NF1) patients that are heterozygous for an NF1 microdeletion remarkable early age at onset and excessive burden of dermal neurofibromas. Microdeletions predominantly maternal in origin arise by unequal crossover between misaligned NF1REP paralogous sequence blocks which flank the gene. We mapped sequenced breakpoints several designed primers within each paralog to specifically amplify a 3.4 kb deletion junction fragment. This assay amplified fragment from 25 54...
In recent years, the translation of genomic discoveries into mainstream medical practice and public health has gained momentum, facilitated by advent new technologies. However, there are often major discrepancies in pace implementation medicine between developed developing/resource-limited countries. The main reason does not only lie limitation resources but also slow adoption findings poor understanding potential that this discipline offers to rationalize diagnosis treatment. Here, we...
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by marked variability in expression. A more severe phenotype frequently observed the group of patients carrying large NF1 deletion. To study extent microdeletion these patients, we generated partial physical map flanking region. We describe seven PACs and three new polymorphic dinucleotide repeats located outside gene analyzed 20 unrelated individuals with an collaborative study. detected one individual...
Genomic medicine has greatly matured in terms of its technical capabilities, but the diffusion genomic innovations worldwide faces significant barriers beyond mere access to technology. New global development strategies are sorely needed for biotechnologies such as genomics and their applications toward precision without borders. Moreover, globally cannot adhere a "one-size-fits-all-countries" strategy, same way that drug treatments should be customized. This begs timely, difficult crucial...
Abstract l ‐DOPA is the most effective treatment for Parkinson's disease but in isolated neuronal cultures it neurotoxic dopamine (DA) neurones. Experiments vivo and clinical studies have failed to show toxicity of animals or patients that does not exclude possibility a toxic effect on with certain genetic risk factors. Mutations parkin gene are frequent cause hereditary parkinsonism. Parkin null mice mild phenotype could be modified by different neurotoxins. The aim this study was...
Genomics has facilitated the identification of a large number genetic variants that are causal and/or risk factors for both rare and common human diseases. Low middle income countries (LMIC) represent proportion population, with distinct health priorities from developed world. There have been some initiatives in LMIC focused on medical genomics research. We review successful examples existing centres suggest recommendations to develop research infrastructure is needed LMIC. an urgent need...
We have analyzed 98.5% of the coding region NF1 gene at cDNA level in seven patients who developed malignant peripheral nerve sheath tumors. Seven germline mutations were detected six individuals: a 6-bp in-frame deletion exon 28, splice acceptor mutation intron 31 resulting premature stop translation, missense 38, and three total deletions. In one with deletion, 16 on other allele was detected. These data indicate that developing neoplasms can any type such as frameshift mutation, an or...
The COVID-19 pandemic led to a large global effort sequence SARS-CoV-2 genomes from patient samples track viral evolution and inform the public health response. Millions of genome sequences have been deposited in repositories. Canadian Genomics Network (CanCOGeN – VirusSeq), consortium tasked with coordinating expanded sequencing across Canada early pandemic, created VirusSeq Data Portal, associated data pipelines procedures, support these efforts. goal was allow open access genomic...
Interindividual variation in pharmacodynamic (PD) response to drugs is an ongoing area of research for clinical development, pre- and postapproval. To characterize how pharmacogenomic (PG) variations can serve as a predictor differences PD outcomes, the pharmaceutical industry has incorporated PG/PD analysis into drug development. The Pharmaceutical Research Manufacturers America (PhRMA) Industry Pharmacogenomics Working Group (I-PWG) conducted survey 16 companies ascertain what extent being...
Over the past two decades, awareness has grown about wide-ranging applications of genomic technologies in human health and beyond.1 This was further heightened during coronavirus disease (COVID-19) pandemic, which underscored critical role genomics while revealing global disparities its adoption benefit sharing. Recognising potential associated implementation challenges, World Health Organization (WHO) Science Council produced inaugural report2 2022, outlining a roadmap to accelerate access...