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This week we are celebrating the 10-year anniversary of the announcement of the 100,000 Genomes Project.
You can read our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/10-years-of-100K-Project.docx
“Thanks to the 100,000 Genomes Project, Sam was the first person diagnosed in the mainstream NHS in England with a GRIN1 genetic disorder. That's been wonderful for us to know, as a family, who else we can find around the world with the same condition. But also, I'm really delighted that GRIN1 genes were added to the gene panels that the teams were using to diagnose more people as a consequence directly of the 100,000 Genomes Project. That's meant that we've been able to find a lot more since then, who shared the same condition. Hopefully, in due course, we'll have enough people that we can get more researchers interested and make real progress together."
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This week we are celebrating the 10-year anniversary of the announcement of the 100,000 Genomes Project.
You can read our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/10-years-of-100K-Project.docx
“Thanks to the 100,000 Genomes Project, Sam was the first person diagnosed in the mainstream NHS in England with a GRIN1 genetic disorder. That's been wonderful for us to know, as a family, who else we can find around the world with the same condition. But also, I'm really delighted that GRIN1 genes were added to the gene panels that the teams were using to diagnose more people as a consequence directly of the 100,000 Genomes Project. That's meant that we've been able to find a lot more since then, who shared the same condition. Hopefully, in due course, we'll have enough people that we can get more researchers interested and make real progress together."
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