Sarah Norcross and Dr Charles Steward discuss whole genome sequencing and newborn screening скачать в хорошем качестве

Sarah Norcross and Dr Charles Steward discuss whole genome sequencing and newborn screening

A conversation between Sarah Norcross (Director of the Progress Educational Trust) and Dr Charles Steward (Lead for Patient Advocacy and Engagement at Congenica, and parent of two children with severe neurological disorders). More details in the full description below ⬇️⬇️⬇️ The main themes of the conversation are as follows. • 00:00 - Looking for conditions in the genome • 02:21 - Cerebral palsy, epilepsy and early intervention • 05:30 - Engaging with parents, patients and the public • 08:37 - What genes and variants should be studied in newborns? • 09:13 - How should Genomics England use lists? • 10:27 - Important work by small charities At the end of this conversation, Dr Charles Steward mentions the work of the following charities. • Hope for Paediatric Epilepsy London - see its website at https://www.hopeforepilepsylondon.org... • Bumblebee Children's Charity - see its website at http://bumblebeechildren.org.uk/ This conversation formed part of the event 'Whole Genome Sequencing at Birth: What Should Be Looked For? What Should Be Fed Back?', which was held online on 17 November 2021. The event was produced by the Progress Educational Trust, in partnership with Genomics England and its Newborn Genomes Programme. A film of the full event can be viewed here –    • Whole Genome Sequencing at Birth: What Sho...   See the Progress Educational Trust's website at https://www.progress.org.uk/ See Genomics England's website at https://www.genomicsengland.co.uk/ See details of the Newborn Genomes Programme at https://www.genomicsengland.co.uk/new... ▪️▪️▪️ Image in video thumbnail by Ezequiel Miron/University of Oxford, via the Wellcome Collection. Depicts the misreplication of DNA in a human fetal lung fibroblast nucleus (super-resolution optical micrograph of DNA stain acquired with a 3D structured illumination microscope). Original image at https://wellcomecollection.org/works/... Image used under a CC BY 4.0 Creative Commons license. See https://creativecommons.org/licenses/...