The Director of the Rare Disease Institute at Children’s National, Clinical Lead for Rare Disease at Genomics England, and the CEO & President of Rady Children’s Institute for Genomic Medicine discuss recent advances in rare disease diagnosis.
A panel discussion with Dr. Marshall Summar, Dr. Ellen Thomas, and Dr. Stephen Kingsmore, moderated by Dr. Pawel BuczkowiczRegister For Free
Stay updated on all things Speaker SeriesNever miss an update or announcement, subscribe to our Speaker Series mailing list.
The Director of Genomic Interpretation for Genomics England addresses the role phenotype-aware analysis plays in improving diagnostic outcomes for individuals with rare conditions. A presentation by Dr. Damian Smedley, hosted by Dr. Pawel Buczkowicz
The UK’s first Academic Clinical Fellow in Genomic Medicine addresses the benefits, potential roadblocks, and solutions required to transition genomics into routine clinical practice. A presentation by Dr. John McDermott, hosted by Dr. Pawel Buczkowicz
Innovation specialist, Principal Genetic Counsellor, and Transformation Manager at at Imperial College Healthcare NHS Trust discusses how genetic departments and staff can improve patient care. A conversation with Demetra Georgiou hosted by Kira Dineen
A geneticist, researcher, and digital champion provides insights from personal experience championing the adoption of digital tools in clinical genetics. A conversation with Dr. Charles Shaw-Smith hosted by Kira Dineen