#78 Pawel Buczkowicz on Gene42

#78 Pawel Buczkowicz on Gene42

My guest joining me for this podcast episode is Dr. Pawel Buczkowicz. He is the Chief Medical Affairs Officer and the VP of Business Development at Gene42. He received his PhD in cancer genetics and molecular pathology from the University of Toronto. His research has been published in leading medical journals such as Nature Genetics. His discovery of novel mutations in human cancers and their associated clinical correlates, have led to a new World Health Organization classification that was implemented for paediatric gliomas in early 2016. Dr. Buczkowicz is passionate about improving healthcare experiences for both the patient and doctor and believes smart and efficient software will revolutionize the way medicine is practiced.

On this episode, we discuss…

Gene42’s Products: PhenoTips, PhenoTips Genomics, and OncoTips

How clinicians/researchers use electronic health records

Future of electronic health records in healthcare

Importance of open-source databases

Research on Diffuse Intrinsic Pontine Glioma (DIPG)

You can follow Dr. Pawel Buczkowicz (@pbuczkowicz) and Gene42 (@gene42inc) on Twitter.

Stay tuned for the next new episode of DNA Today on April 6th, 2018 where I will be discussing the human microbiome with Bibaswan Ghoshal! New episode are released on the first and third Fridays of the month. See what else I am up to on Twitter (@DNApodcast) , Instagram(@DNAradio), Facebook (@DNApodcast) and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

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Avsnitt(412)

#411 Mock Cancer Genetic Counseling Session: Colon Cancer and Lynch Syndrome

#411 Mock Cancer Genetic Counseling Session: Colon Cancer and Lynch Syndrome

What happens during genetic counseling after someone develops colon cancer at a young age and their tumor testing raises concern for Lynch syndrome? This is the eighth installment in our Mock Genetic ...

11 Sep 30min

#410 Gypsy Rose Blanchard’s 1q21.1 Microdeletion: What Does It Explain?

#410 Gypsy Rose Blanchard’s 1q21.1 Microdeletion: What Does It Explain?

This episode drop from the PRETEND podcast series “The Gypsy Rose Obsession” features Kira Dineen explaining what Gypsy Rose Blanchard’s genetic test result may, and may not, mean. Gypsy Rose Blanchar...

4 Sep 43min

#409 How DNA Testing Exposed the Dark History of American Adoption

#409 How DNA Testing Exposed the Dark History of American Adoption

What happens when stigma, secrecy, and institutional power separate a mother from her child, and prevent an adoptee from accessing his own identity and medical history for decades? This week, we are s...

28 Aug 43min

#408 Low ALP, Fractures, and Early Tooth Loss Point to Hypophosphatasia

#408 Low ALP, Fractures, and Early Tooth Loss Point to Hypophosphatasia

Hypophosphatasia (HPP) can present very differently from one person to the next, from life-threatening complications in infancy to fractures, chronic pain, muscle weakness, or early tooth loss later i...

21 Aug 37min

#407 NFL and Kansas City Chiefs Star Art Still on the Missed Signs of Hereditary Amyloidosis

#407 NFL and Kansas City Chiefs Star Art Still on the Missed Signs of Hereditary Amyloidosis

What happens when the symptoms of a genetic condition look like the lasting effects of a professional football career? Former NFL defensive end and Kansas City Chiefs star Art Still spent decades attr...

14 Aug 39min

#406 Mock Teratogen Genetic Counseling Session: Ozempic, Zoloft, Xanax, and Metformin

#406 Mock Teratogen Genetic Counseling Session: Ozempic, Zoloft, Xanax, and Metformin

This is our seventh installment in our Mock Genetic Counseling Session Series! In this episode, genetic counselor and teratogen information specialist Sharon Voyer Lavigne and student Edith Atwerebour...

7 Aug 30min

#405 Why Insurance Denies Genetic Testing, and How to Navigate Coverage

#405 Why Insurance Denies Genetic Testing, and How to Navigate Coverage

Genetic testing can change the course of a patient’s care, but accessing the right test is not always straightforward. Behind the scenes, insurance coverage decisions, documentation requirements, prio...

31 Juli 34min

#404 Male Breast Cancer with X-Men Actor and Former Pro Wrestler Tyler Mane

#404 Male Breast Cancer with X-Men Actor and Former Pro Wrestler Tyler Mane

What happens when someone known for strength, stature, and intimidating roles faces a diagnosis most people do not associate with men?   Tyler Mane is known for playing Sabretooth in X-Men and Deadpoo...

24 Juli 21min

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