Dr. Pawel Buczkowicz Welcome To My Professional Site
In everything I do, I strive to make a tangible, beneficial impact on how medicine and healthcare is practiced around the world.
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In everything I do, I strive to make a tangible, beneficial impact on how medicine and healthcare is practiced around the world.
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Every day I learn from the many amazing people with whom I get to work and collaborate across a range of my professional interests, which include:
My first passions are genetics and molecular pathology. I previously worked at the Hospital for Sick Children doing research on brain cancer.
At PhenoTips, I'm working on the world's first Genomic Health Record for clinical phenotyping in medical genetics and rare disease research.
Combining my knowledge of medicine & technology, I providing consulting related to the technical & strategic aspects in the healthcare, research & biotech industries.
I hold a BSc in Chemistry and Biology from Ryerson University, a PhD in Laboratory Medicine & Pathobiology from the University of Toronto and certification in Lean Six Sigma. My previous experience includes an eight and a half year stint as a medical research scientist at the Hospital for Sick Children, where I worked with teams of clinicians and researchers from all over the world on projects in oncology, cancer genetics, rheumatology and molecular pathology.
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My contributions to the medical community included the discovery of novel mutations in human cancer and the development of clinical correlates based on which a new World Health Organization classification was implemented in 2016 for paediatric gliomas (diffuse midline glioma, H3 K27M–mutant), a type of childhood brain cancer. I also have experience in the biopharmaceutical industry having worked for a company which produced disease antigens from infectious pathogens for medical diagnostic and vaccine research, among other biopharmaceuticals.
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DIPG is a brain cancer that occurs in young children. It is found in the area at the back of the brain called the pons.
DIPG have various genetic, molecular and histological features that help classify them. These tumours can present as WHO grade II-IV gliomas, rarely as PNETs and the most common genetic features include mutations of ACVR1, PPM1D, TP53, H3F3A and other histone H3 genes, as well as copy number alterations of PDGFRA, TP53, RB1, PTEN, MYCN and PVT1/MYC.
To learn more about DIPG visit DIPG.org
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This video will hopefully shed some light on why I do what I do. I spoke at a
Podcast and radio show on WHUS 97.1FM discussing genetics, rare diseases, cancer, pathology and how those relate to the vision at Gene42 (currently named PhenoTips).
I speak with Dr. Peter Robinson, founder of the groundbreaking Human Phenotype Ontology, about the importance of deep phenotpying in precision medidicne.
Dr. John McDermott from Manchester Centre for Genomic Medicine joined me to discuss ways in which genomics can be integrated into routine clinical care.
Professor of Computational Genomics, Dr. Damian Smedley, developer of Exomiser discusses the role of phenotyping in improving diagnostic outcomes.
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