Welcome To My Professional Site

My name is Pawel Buczkowicz.
I am a medical scientist with a flair for technology
and a vision to improve & modernize healthcare.
#Genetics  #Software  #LeanSixSigma  #Dialogue


My first passions are genetics and molecular pathology. I previously worked at the Hospital for Sick Children doing research on brain cancer.


I bring those passions to my current role at Gene42, where I work on smart software 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.


It's all about lifelong learning - challenging other's views and having your own views challenged. Dialogue is what moves innovation and ideas forward.

A little bit more about me

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.

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.

I am driven to improve the way healthcare is practiced with simple, efficient and smart technologies, specifically relating to electronic health records and standardization of clinical vocabulary. In the age of big data, machine learning, next-generation sequencing and personalized precision medicine, effortless recording and querying of patient data will be critical for improving diagnostic efficiency and accuracy, and will impact health economics and clinical collaboration on a global scale.

I bring a varied breadth of experience in business, industry and medical research (oncology, genetics, bioinformatics). Currently, I spend my days at Gene42, a medical software company, in an executive role, as well as providing professional consulting related to the technical and strategic aspects in the healthcare, biotech and medical research industries.

DNA Today podcast #78

On March 16, 2018 I did a radio show on WHUS 97.1FM and podcast discussing genetics, rare diseases, cancer, pathology and how those relate to the vision at Gene42 to enable precision medicine through patient and clinician-focused smart software. Have a listen.

Platform Presentation

ISPNO Conference 2014, Singapore

Recognition - PhD

Recipient of the 2015 Stuart Alan Hoffman Memorial Prize

Recognition - Lean Six Sigma

Acceptance Speech for Marilynn Booth Award for Excellence - November 2017


Peer Reviewed Publications

Identification of complex genomic rearrangements in cancer using CouGAR. Genome Research 2017 27(1):107-117    [PDF - 5.02MB]

Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations. Nature Genetics 2014 46(5);451-56    [PDF - 840KB]

Pathology, molecular genetics, and epigenetics of diffuse intrinsic pontine gliomas.
Frontiers in Oncology 2015 30;5:147    [PDF - 1.67MB]

Histopathological spectrum of paediatric diffuse intrinsic pontine glioma: diagnostic and therapeutic implications. Acta Neuropathologica 2014 128(4)573-81    [PDF - 1.26MB]

K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas. Acta Neuropathologica 2012 124(3)439-47    [PDF - 461KB]

For a full list of my publications see PubMed