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The Role of Phenotyping in Improving Diagnostic Outcomes
Join us live on June 22nd 4 to 5pm GMT, 12 to 1pm EDT, for the tenth installment of PhenoTips’ Speaker Series, “The Role of Phenotyping in Improving Diagnostic Outcomes”.

The Role of Phenotyping in Improving Diagnostic Outcomes is a presentation and interactive Q & A with Dr. Damian Smedley, a University of London researcher developing the popular Exomiser package for phenotype-aware analysis of rare disease genomes, hosted by PhenoTips' COO and VP of Scientific and Medical affairs Pawel Buczkowicz.

Whole genome and exome sequencing have had a tremendous impact on rare disease diagnosis and gene identification. While hundreds of novel disease-associated genes have been characterized thanks to this technology in the past five years, the identification of disease-causing mutations is often challenging due to the large number of rare variants that continue to be revealed.

In this presentation, the Director of Genomic Interpretation for Genomics England, Dr. Damian Smedley, will address:
• Leveraging Human Phenotype Ontology (HPO) in annotating, filtering, and prioritizing likely causative variants.
• The impact of phenotype-based approaches to rare disease on diagnostic outcomes

Event breakdown:
• 45 minute presentation
• 15 minute audience Q & A

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Jun 22, 2021 12:00 PM in Eastern Time (US and Canada)

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Speakers

Dr. Damian Smedley
Senior Lecturer @Queen Mary University of London
Damian holds a B.Sc. and PhD in Biochemistry. Following postdoctoral research, he pursued a new, purely computational research career via a M.Sc. in Bioinformatics from Birbeck College. At the European Bioinformatics Institute (EBI) he contributed to the BioMart software system evolving from the advanced query interface of Ensembl to a federated data management system used by multiple resources worldwide. He then founded and led the mouse informatics team at the EBI before a 3 year spell at the Sanger Institute as a senior manager. In 2016 Damian joined the William Harvey Research Institute (WHRI) as a Senior Lecturer where his research team continues to work on the development of the popular Exomiser package for phenotype-aware analysis of rare disease genomes. He is also the Director of Genomic Interpretation for Genomics England where he is helping to deliver the clinical analysis of rare disease and cancer samples in the 100,000 Genomes Project.
Dr. Pawel Buczkowicz
COO VP Scientific & Medical Affairs @PhenoTips
Pawel Buczkowicz, PhD has Lean Six Sigma certification and a PhD in cancer genetics and molecular pathology from the University of Toronto. He has worked on various projects including using next generation sequencing technologies to improve therapies for high-risk childhood cancer, development and validation of clinical genetic tests, and translational research on paediatric stroke, vasculitis and brain tumours. Based on his translational research on brainstem gliomas, published in various high impact journals such as Nature Genetics, including the discovery of novel mutations in human cancers and development of clinical correlates, a new World Health Organization classification was implemented for paediatric gliomas. Dr. Buczkowicz is passionate about streamlining clinical workflows in order to improve the healthcare experience for both patient and doctor and believes smart and efficient software will revolutionize the way medicine is practiced.