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What is the UK Inherited Retinal Dystrophy Consortium (UKIRDC) and why does it exist?

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Manage episode 356489548 series 3200318
Contenido proporcionado por Retina UK. Todo el contenido del podcast, incluidos episodios, gráficos y descripciones de podcast, lo carga y proporciona directamente Retina UK o su socio de plataforma de podcast. Si cree que alguien está utilizando su trabajo protegido por derechos de autor sin su permiso, puede seguir el proceso descrito aquí https://es.player.fm/legal.

Kate Arkell, Research Development Manager at Retina UK hosts this edition alongside Dr Madina Kara, Director of Research and Innovation at Fight for Sight. They are joined by Prof Graeme Black and Prof Alison Hardcastle. Graeme is Professor of Genetics and Ophthalmology at Manchester Uni, and a consultant ophthalmologist at Manchester Royal Eye Hospital. He is the original lead investigator of the UKIRDC. Alison is Professor of Molecular Genetics and Deputy Director of Research within the Institute of Ophthalmology, University College London. Alison is current lead investigator of the UKIRDC

They discuss the UK Inherited Retinal Dystrophy Consortium, or UKIRDC, which has sometimes been referred to as the RP Genome Project. This is a major research project, which started in 2014, and has been funded by Retina UK with support from Fight For Sight. With a significant proportion of inherited retinal conditions being caused by unidentified genetic faults, and many families unable to get clear results from genetic tests in clinic, the project set out to solve previously undiagnosable cases and discover more of the genes and mutations that are associated with sight loss.

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165 episodios

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Manage episode 356489548 series 3200318
Contenido proporcionado por Retina UK. Todo el contenido del podcast, incluidos episodios, gráficos y descripciones de podcast, lo carga y proporciona directamente Retina UK o su socio de plataforma de podcast. Si cree que alguien está utilizando su trabajo protegido por derechos de autor sin su permiso, puede seguir el proceso descrito aquí https://es.player.fm/legal.

Kate Arkell, Research Development Manager at Retina UK hosts this edition alongside Dr Madina Kara, Director of Research and Innovation at Fight for Sight. They are joined by Prof Graeme Black and Prof Alison Hardcastle. Graeme is Professor of Genetics and Ophthalmology at Manchester Uni, and a consultant ophthalmologist at Manchester Royal Eye Hospital. He is the original lead investigator of the UKIRDC. Alison is Professor of Molecular Genetics and Deputy Director of Research within the Institute of Ophthalmology, University College London. Alison is current lead investigator of the UKIRDC

They discuss the UK Inherited Retinal Dystrophy Consortium, or UKIRDC, which has sometimes been referred to as the RP Genome Project. This is a major research project, which started in 2014, and has been funded by Retina UK with support from Fight For Sight. With a significant proportion of inherited retinal conditions being caused by unidentified genetic faults, and many families unable to get clear results from genetic tests in clinic, the project set out to solve previously undiagnosable cases and discover more of the genes and mutations that are associated with sight loss.

  continue reading

165 episodios

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